hATTR Caregivers Share Views on Treatment - There's Still Time to Share Yours!

Almost 50 caregivers and family members of hereditary transthyretin amyloidosis (hATTR) patients have responded to ARC's 'hATTR treatment perspectives' survey so far, with responses from across the United States and across the globe. 

The information caregivers have been sharing with us about the impact of hATTR on their own lives and what they think is important about treating the disease is incredibly valuable and will help us achieve our goals to improve access to new treatments for hATTR. Thank you to everyone who has taken part! However, we need to hear more people's voices so that we can make the most significant impact. 

If you are a caregiver or family member of a hATTR patient and have not yet taken part in the survey please consider doing so. The survey will remain open until June 14th. Take the survey today!

English Survey

Spanish Survey

Please note this survey is for caregivers of hATTR patients only. We are asking for hATTR patients' views in a separate survey, which you can find here.

If you are a caregiver of a patient with AL, wild-type of other type of amyloidosis please keep an eye on our website for future surveys asking for your views.

ARC attends the European Conference on Rare Diseases and Orphan Products


The Amyloidosis Research Consortium (ARC) recently attended the European Conference on Rare Diseases and Orphan Products in Vienna, Austria. The conference brings together patient representatives, academics, health care professionals, researchers, industry, payers and regulators around a common interest - to advance diagnosis, treatment and care for patients living with a rare disease in Europe and beyond.

ARC’s objectives in attending were to promote awareness of amyloidosis, share best practice from amyloidosis initiatives and, through networking and learning from other rare disease communities, identify new opportunities for improving the landscape of research, treatment and care in amyloidosis. We were also selected to present our Patient-Focused Drug Development Initiativean innovative project that ARC hosted in association with the FDA, as a model for improving regulators’ understanding of a rare disease.

This year the focus of the conference covered many relevant areas to ARC’s strategy, with stakeholders discussing the opportunities and challenges in diagnosing rare diseases, the need for better data collection and sharing of this data between specialist centers and countries, and the importance for patient organizations to take the lead in understanding, promoting and communicating what matters to patients and caregivers.

The landscape for diagnosing and treating amyloidosis is changing rapidly but the community needs to make sure the infrastructure is there to ensure patients benefit as quickly as possible.  ARC came away inspired by the opportunities to make a tangible impact on the way amyloidosis is diagnosed and treated. We look forward to working with the wider community on putting this into practice.

Hereditary ATTR Amyloidosis Patient and Caregiver Treatment Perspective Survey

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ARC has designed a survey to find out what matters most to patients and their caregivers about treatments for hereditary transthyretin amyloidosis (hATTR). Having this insight will help us achieve our goals to speed up the development of and access to new treatments for hATTR.

What does the survey ask about?

Patients: The survey asks you for information about your experience as a hATTR patient since you have been diagnosed. It asks about your symptoms and the impact that they may have on your daily life. It also asks about what treatments you have experienced and your views on these. Finally, the survey asks what matters to you most when thinking about future treatment.

Caregivers: The survey asks you for information about your experience as a caregiver. It asks about the symptoms that the person you care for experiences and the impact that they may have on your daily life. Finally, the survey asks what matters to you most when thinking about future treatment for hATTR.

How long will it take?

The survey should take no longer than 20 minutes to complete. It is made up of multiple choice and open-response questions. You can share as much or as little as you like in the open-response questions, however the more you tell us the more we will learn.

You can leave the survey and return to where you left off if you wish to take a break. You will need to use the same computer or device to complete the survey.

How will my responses be used?

What matters to patients drives all our work. We will use the survey findings across our programs to inform decision-makers, researchers and health professionals. 

We will make a summary report of the findings available on our website soon.

We will treat what you tell us in confidence. We will not publish anything that allows you to be identified.

How do I find out more?

If you need any help completing the survey or have any questions please contact the ARC team on 617-467-5170 (USA) or 0131 550 3866 (UK).


We created separate surveys for patients and caregivers. Please only take the survey that pertains to you.

ARC Provides Vital Feedback for Evaluation of New hATTR Treatments

The Amyloidosis Research Consortium (ARC) responds to ICER's draft scoping document for the evaluation of patisiran and inotersen treatments for hATTR amyloidosis.

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The Institute of Clinical and Economic Review (ICER), is an independent organization that seeks to improve healthcare value by providing comprehensive clinical and cost-effectiveness analyses of treatments. In February they held an open input period for their planned review of inotersen and patisiran treatments for hereditary transthyretin-related amyloidosis (hATTR). This allows ICER to address the concerns of the community such as disease burden, patient preferences, importance of the treatments and current treatment landscape from patients, clinicians, policymakers, manufacturers and other healthcare decision makers and ensure that the report has the broadest possible relevancy. 

ARC provided an extensive outline in response to ICER's draft scoping document for the evaluation of patisiran and inotersen for hATTR and, as a result, changes to their draft were made in accordance with the feedback ARC provided. 

The Revised Scoping Document for ICER's upcoming evaluation of inotersen and patisiran treatments has now been published and can be reviewed here.

Below is a copy of the report ARC provided:

Amyloidosis Research Consortium comments on draft scoping document - April 2018

1.     Proposed patient population for the review

The scoping document states that ‘the population of focus for the review is adults with hereditary (hATTR) amyloidosis, formerly known as familial amyloid polyneuropathy (FAP).’ This is not an accurate description of hATTR. hATTR is characterized by the deposition of amyloid derived from transthyretin in various organs and tissues, including peripheral nerves and the heart. hATTR-FAP and familial amyloid cardiomyopathy (hATTR-FAC) – also known as hATTR-PN and hATTR-CM - are two clinical presentations of hATTR, but they are not mutually exclusive; many hATTR patients will experience both polyneuropathy and cardiomyopathy.

For the avoidance of doubt, the background and population sections should clarify that this is a multi-systemic disease. While all patients in the studies for the drugs under review had familial amyloid polyneuropathy (hATTR-FAP or hATTR-PN), patients may have also had cardiac involvement; as such, exploratory cardiomyopathy endpoints were also included in the studies and may be relevant for this evaluation.

2.     Current treatment of hATTR

ARC considers it important to clearly outline the current treatment paradigm for the hATTR patient population to set the right context for the evaluation of the new treatments. Currently there is no licensed or off-label disease-modifying treatment approach that constitutes standard of care in hATTR.

Tafamadis is not approved by the FDA for hATTR-FAP and clinical trials for use of tafamidis in hATTR-CM remain ongoing. Some patients continue to receive open-label treatment with patisiran or inotersen following their participation in controlled studies, or through each product’s expanded access program.

While liver transplantation is a potential treatment, it is only indicated for a very small minority of this patient population with very early stage polyneuropathy. Furthermore, due to personal preference, concern over transplant-related risks and shortage of organ availability, very few patients receive this treatment.

The scoping document refers to diflunisal as being ‘currently considered first line treatment’. Diflunisal is used off-label with a considerable number of hATTR patients. However, it is contraindicated for certain patients (for example, those who are on anticoagulants). It is also unlicensed for this patient population and there is only limited evidence of its effectiveness. Clinical experts tell us that while it is used in the absence of alternatives, there is no clear evidence of its effectiveness. As such we do not think it is an appropriate comparator for this evaluation.

Symptom management approaches are the basis of current standard of care alongside diflunisal. These approaches do not delay the course of the disease but can alleviate disabling symptoms and improve quality of life, for example, by reducing neuropathic pain (e.g. gabapentin) and improving autonomic function, particularly gastrointestinal symptoms (e.g. immodium, codeine, erythromycin and rarely colostomy), cardiac function (e.g. diuretics) and blood pressure control. To this end, ICER should consider the main symptom management approaches as being the mainstay of standard treatment.

3.     Analytic framework – direct comparison

hATTR patients and their families are eagerly anticipating the availability of the two treatments covered by this evaluation (patisiran and inotersen) as well as future new licensed treatments that have the potential to modify and delay progression of their disease.

We note in the analytic framework that ICER intends to directly compare patisiran and inotersen should data allow. Despite some obvious similarities between the two drugs they should not, however, be considered as equivalent. Both drugs offer considerable potential benefits and a significant step change in the management of hATTR. ARC believes it is important that both options should be available for patients and their physicians to choose from, based on personal preference, feasibility and other factors.

From a patient perspective the different administration of these drugs is a critical consideration alongside the differences in their potential efficacy benefits and side-effects.  For many patients, regular infusions in hospital or in alternative setting (patisiran) will not be feasible or desirable, while for other patients such a regimen may be feasible and/or preferred over inotersen after consideration of all the factors associated with both treatments. 

In addition, should patients need to discontinue one of the treatments for any reason (for lack of efficacy or undesired effects) they should have the option of trying an alternative. Assuming equivalence could limit choice for clinicians and patients and jeopardise their to effectively manage the disease.

4.     Analytic framework – potential other benefits and contextual considerations

This patient population has very significant unmet need. The disease is extremely debilitating and life-limiting for which current standard of care is predominantly limited to symptom management.

The physical effects of the disease impact the ability of many patients to function day-to-day and to participate in family, work and social activities. As symptoms deteriorate, many patients are no longer able to be independent. They may lose the ability to walk, drive and work, leading to additional financial, emotional and caregiver burden.

The disease causes a tremendous emotional burden, and this often extends to caregivers and family members. The hereditary nature of the disease means many patients have been caregivers for loved ones before succumbing to the disease themselves and live with the knowledge that they may pass it onto their children. The disease has a substantial lifelong impact on entire families.

The disease places a significant burden on family members as they provide physical and emotional care to patients while experiencing a considerable emotional burden of their own in dealing with the realities of the disease. Family members often become full or part-time caregivers with consequences on their work, social and financial situations.

In offering an option that can stabilize and stop further deterioration these new treatments can make a considerable improvement to patients’ and families’ quality of life. Effective control of the disease could support patients and caregivers to remain at work, retain independence and participate in family and wider life. It could also significantly reduce patients’ reliance on and use of supportive care treatments.

The technologies themselves are also innovative in the way they offer a novel treatment approach for this disease. To date there are no alternatives that inhibit the production of transthyretin, thereby slowing the progression of the disease.

In providing an effective disease-modifying option, these treatments represent a significant step change in the potential management of hATTR and in meeting the unmet need of this patient population.

There are numerous health benefits that are not fully captured by the clinical data. hATTR is a heterogeneous disease and patients are affected by symptoms in different ways. Fatigue, peripheral neuropathy, gastrointestinal events, incontinence, erectile dysfunction, muscle weakness, pain, insomnia and vision problems are particularly cited by patients and family members in our research as having a significant impact on their quality of life. Not all of these are captured by the clinical data or quality of life tools, yet it is important to recognize that control of the disease could improve the specific symptoms that matter most to patients.

Report from ISA 2018

750 attendees from 39 countries headed to the International Symposium on Amyloidosis (ISA) in Kumamoto, Japan.

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This past month, ARC CEO Isabelle Lousada headed to the International Symposium on Amyloidosis (ISA) in Kumamoto, Japan. The meeting has grown significantly over the past decade with over 750 attendees from 39 countries this year. Attendees from the amyloidosis community included; basic and translational researchers, academics, clinicians, leaders from patient organizations and pharmaceutical company representatives.

Traditionally the focus of this meeting has been on amyloidosis research. This year was noticeably different because, for the first time, there are multiple treatments in development for both AL and ATTR amyloidosis and, as a result, much of the focus this year was directed toward these treatments and evaluating the evolving treatment landscape.

Here is an overview from the presentations:

ATTR Landscape

Dr. Mathew Maurer, from Columbia University, gave a great overview of the ATTR landscape. The most significant advances since the last ISA meeting held in 2016 were in the ATTR field.  Inotersen (Ionis Pharmaceuticals and Akcea Therapeutics) and Patisiran (Alnylam Pharmaceuticals) both completed their phase 3 registrational trials in hereditary ATTR (hATTR). As previously announced, both trials met their primary efficacy endpoints, with inotersen looking at change in neuropathy and quality of life at 15 months compared to placebo and patisiran looking at change in neuropathy at 18 months compared to placebo.

Inotersen (Ionis Pharmaceuticals/Akcea Therapeutics)

Inotersen is an antisense therapy, which is designed to bind to a mRNA molecule that contains the genetic information for building the protein that causes a disease. This is sometimes referred to as “gene silencing” because instead of repairing the faulty gene, it aims to “silence” the gene’s effect. In this case, the antisense drug is silencing the gene responsible for the production of TTR.

In addition to sharing more detail from the original double-blind NEURO-TTR phase 3 trial, results were shared showing that patients who received inotersen in both the NEURO-TTR trial and the open label extension (OLE) study experienced a greater and continued benefit compared to patients who received placebo in the NEURO-TTR trial before crossing over to inotersen treatment in the OLE study. Additionally, patients who initially received placebo in the NEURO-TTR trial experienced rapid onset of benefit upon crossing over to inotersen treatment in the OLE study.

Results from an ongoing investigator-sponsored phase 2 trial in cardiomyopathy patients with hATTR and wild-type ATTR (wtATTR) showed a reduction in left ventricular mass at 24 months, and a mean improvement from baseline in the 6-minute walk test.

Inotersen has been accepted for priority review by the U.S. Food and Drug Administration (FDA). The FDA has set a Prescription Drug User Fee Act (PDUFA) date of July 6, 2018, by which time the FDA must complete their review of the drug application.

Patisiran (Alnylam Pharmaceuticals)

Patisiran is an investigational RNAi therapy. RNAi is a technology that uses small interfering ribonucleic acid (siRNA) to interfere with and prevent RNA’s ability to produce the TTR protein.

Data presented from the Phase 3 APOLLO trial and Open Label Extension (OLE) study included patients who had received patisiran for up to four years. These patients showed sustained benefit in neuropathy. Patients who had originally received placebo in the APOLLO trial showed progression until crossing over to patisiran in the OLE and then showed stabilization.

56% of APOLLO patients who were included in a pre-defined cardiac subpopulation demonstrated that there were improvements in cardiac structure and function at 18 months.

Patisiran has been accepted for priority review by the FDA and the PDUFA date has been set for August 11, 2018, by which time the FDA must complete their review of the drug application.

Tafamidis (Pfizer)

Tafamidis is a transthyretin (TTR) stabilizer. The results of the phase 3 trial (ATTR-ACT), evaluating tafamidis in patients with hATTR and wtATTR cardiomyopathy, were announced moments after the close of the meeting. Pfizer’s press release stated the trial had successfully met its primary endpoint, achieving a statistically significant reduction in the combination of all-cause mortality and frequency of cardiovascular-related hospitalizations.

AL landscape

Dr. Angela Dispenzieri of the Mayo Clinic and Dr. Giampaolo Merlini of Fondazione IRCCS Policlinico San Matteo gave keynote talks about AL amyloidosis. Dr. Merlini shared details of the growing knowledge around the mechanism of disease and said, “In the near future the treatment of systemic amyloidosis will include the combination of agents targeting critical steps of the amyloid cascade.” Dr. Dispenzieri presented a comprehensive view of the landscape of novel therapies for AL. These included:

Daratumumab (Janssen)

Daratumumab, which is an anti-CD38 antibody approved for myeloma, showed impressive results in two phase 2 trials achieving hematologic response in patients who had received an average of three prior treatments. There is an ongoing multi-center phase 3 trial in newly diagnosed AL patients evaluating daratumumab plus cyclophosphamide, bortezomib and dexamethasone (CyBorD) compared with CyBorD alone. The trial is currently enrolling, and patient involvement is expected to last 8 years.

NEOD001 (Prothena)

Results from the phase 1/2 trial of NEOD001 showed the therapy to be safe and well tolerated. Over half the patients with cardiac, renal or peripheral neuropathy responded to treatment and had improved function. The results from the phase 2b trial PRONTO in patients who had previously received therapy, with partial or better response and with persistent cardiac dysfunction, will be announced later this year. The VITAL phase 3 trial in treatment naive patients with a confirmed diagnosis of AL amyloidosis and cardiac involvement is ongoing. NEOD001 is also being tested in the ongoing RAIN trial sponsored by Tufts Medical Center, which is assessing the efficacy and safety of NEOD001 in AL patients who have achieved a stable hematologic response to prior therapy but still exhibit persistent kidney disease.

UPDATE April 23, 2018: Prothena is discontinuing development of NEOD001 for AL Amyloidosis based on negative results from the Phase 2b PRONTO study and a futility analysis of the Phase 3 VITAL study. Full press release here: http://bit.ly/2HlUfqN


Retrospective outcomes of adding doxycycline to standard chemotherapy in 30 patients with cardiac AL amyloidosis were compared to 73 matched controls (cardiac, disease stage, nt-proBNP, age, dFLC.). 94% of patients had Mayo stage III disease. The results showed an encouraging impact of adding doxycycline to standard chemotherapy on early mortality in cardiac AL amyloidosis.

CPHPC + Anti-SAP antibodies 

CPHPC + Anti-SAP antibodies has been studied in a small number of patients and has shown evidence of change in amyloid load. A phase 2 trial has been planned and is aiming to confirm clinical efficacy and patient benefit.


Venetoclax is a plasma cell directed therapy which induces cell death in MM cell lines. It has been shown to be successful in multiple myeloma. Data was shared on a patient who had a partial response to CyBorD therapy. The addition of venetoclax to bortezomib and dexamethasone made it possible to achieve a complete response.  Further studies are being done.


Data was shown on the open-label, dose-escalation phase 1 a/b trial of an amyloid-fibril reactive monoclonal antibody IgG1k 11-1F4 (CAEL-101) in for patients with relapsed or refractory AL amyloidosis. 24 patients were evaluable for a response. 67% (12 out of 18) of patients with a cardio/renal involvement showed a response, and 3 patients with involvement of other organs also showed response. Data from the trial showed treatment with CAEL-101 was safe, well tolerated, and clinically efficacious. CAEL-101 will move forward in a planned multicenter phase 2 SWOG trial and future industry-sponsored phase 3 trial.


ECGC was studied in patients with cardiac AL amyloidosis in a randomized, placebo-controlled clinical trial of GERAMY (TAME-AL). The results showed no significant difference between the two groups.

To learn more about open clinical trials and to see if you may be a match, you can sign up for ARC’s My Amyloidosis Pathfinder here: www.myamyloidosispathinder.org

Moving toward earlier diagnosis

There is consensus among the community that amyloidosis is massively underdiagnosed, and for many patients diagnosis can take many years. At the meeting, ARC presented data from our cardiac patient study that looked at the patient’s journey to diagnosis. One of the highlighted findings from the study showed 36% of patients with cardiac involvement had previously been diagnosed with carpal tunnel, yet 43% of patients reported 6 or more years between their diagnosis of carpal tunnel and their diagnosis of amyloidosis. Additional presentations at the meeting highlighted possible other early indicators of amyloidosis including stenosis. This is an area where there will be an increasing amount of focus. There was also a lot of discussion around women with wtATTR not being diagnosed, noting that around 96% of patients in the Transthyretin Amyloidosis Outcomes Survey (THAOS) registry with wtATTR are male. All of these factors reiterate the great need to improve diagnostic tools to help ensure earlier diagnosis.



ARC Launches Version Two of Powerful Amyloidosis Diagnostic App

 Since its launch a year ago, this innovative tool for improving early and accurate diagnosis of amyloidosis, has been downloaded by more than 2000 users in over 10 countries.

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A recent ARC survey showed that patients typically see four or more physicians before getting accurately diagnosed, and often those who were misdiagnosed were receiving treatment for their misdiagnosis. The app was developed to provide healthcare professionals with easy, mobile access to critical and current medical information on this rare and often fatal disease to help facilitate and improve the rate of diagnosis. In addition to etiology and pathogenesis, the app identifies the complex clinical symptoms that too often result in misdiagnosis and lead to critical delays in accurate diagnosis and treatment for patients.

The latest version includes updated diagnostic algorithms, providing instant access to the ideal process and accurate testing path for the specific type of amyloidosis. The app now houses extensive educational resources for clinicians on the disease complexity, including; journal articles, treatment protocols, disease registries, genetic information and diagnostic test codes. The app also highlights current drug development for amyloidosis and accompanying clinical trials that may be relevant for amyloidosis patients.

“Amyloidosis is significantly under-diagnosed, and patients often see many physicians, taking years to get diagnosed. It is critical to get patients diagnosed earlier in order for them to benefit from current and novel treatments” says Martha Grogan, Cardiologist and Director of the Cardiac Amyloid Clinic at Mayo Clinic. “ARC’s Amyloidosis Clinical Resources App is a vital resource that has been shown to successfully enable physicians to make an earlier diagnosis.”

The medical information and resources in the app were provided and reviewed by amyloidosis experts from around the world and the content is continually updated to ensure health care professionals always have access to the latest medical information. With the new updates, the app now has a survey for users to complete which will provide valuable feedback for ongoing improvements.

In addition to the app, ARC also has a clinical trial and treatment center finder tool, My Amyloidosis Pathfinder (MAP), where patients and caregivers can find personalized treatment centers and clinical trials based on their type of amyloidosis. This tool empowers patients to find the best possible care and treatment that is right for them. These tools are part of ARC’s commitment to improving the awareness and education of amyloidosis.

ARC encourages patients to share the Clinical Resources App with their doctors and to advocate for all healthcare professionals to download this resource.

The Amyloidosis Clinical Resources App can be downloaded to a smartphone or tablet for FREE from the iTunes App Store or from GooglePlay Store.



Groundbreaking News for ATTR Cardiac Amyloidosis Community

Yesterday was a big milestone for the ATTR amyloidosis community.

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Pfizer announced the results from their phase III ATTR-ACT study of tafamidis for patients with cardiac ATTR amyloidosis. The results demonstrated a statistically significant reduction in the numbers of deaths and cardiac-related hospitalizations compared to a placebo during the study period.

To date there are no approved therapies for cardiac ATTR amyloidosis, and this news is an important milestone for patients and their families. We look forward to Pfizer sharing more detailed results in the upcoming months and the FDA’s review of this data. We are grateful to Pfizer for their ongoing commitment to ATTR amyloidosis. 

You can read the full press release here.

2018 Rare Disease Week on Capitol Hill

Hundreds of members from the rare disease community gathered in Washington D.C. to advocate for policy change.

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Every year around Rare Disease Day (February 28th), The EveryLife Foundation hosts Rare Disease Week on Capitol Hill. The event aims to bring together the rare disease community to educate them federal legislative issues and give them the chance to share their stories with legislators. The entire week provides a unique opportunity to raise awareness of key policy issues that affect amyloidosis. Patient organizations, the NIH and other government entities, medical researchers and pharmaceutical companies developing treatments for rare diseases all take part in the event.

This year, The Amyloidosis Research Consortium (ARC) took advocates from across the country to Capitol Hill where they learned key advocacy skills and how to effectively engage with their state representatives. Advocates then took the best practices they learned to the Hill and shared their personal experiences with amyloidosis and discussed key policy issues that are currently impacting our community.

Day 1: Legislative Conference

The week kicks off with the legislative conference where attendees learn how to be effective advocates and what to expect when meeting with members of Congress. This session gives advocates, who have no prior experience in advocacy, the tools to feel confident addressing members of Congress and discussing the policy issues that are important to them.

Two bills under review highlighted, which could significantly impact rare diseases and where advocacy efforts are being focused are:

1. The Open Act (Orphan Products Extension Now, Accelerating Cures & Treatments) H.R.971 / S.1421 

The bipartisan Open Act has the potential to double the number of treatments available to rare disease patients. The bill would create a six-month exclusivity extension for companies that re-purpose existing therapies for a rare disease indication. Learn more about the Open Act.

2. Support the Advancing Access to Precision Medicine Act H.R.5062 

The bipartisan Precision Medicine Act promotes the use of genetic and genomic testing in healthcare. Genomic sequencing holds the potential to not only accelerate diagnoses, but also personalize treatments, and even speed development and approval of novel therapies. Learn more about the Precision Medicine Act.

Day 2: Lobby Day

The following day attendees were divided up by state and district to meet with their members of Congress from both the House and Senate. Each group had 20 minutes to share their stories about how rare diseases have affected their life and how the proposed legislation would make an impact on the rare disease community.

 Advocates from Massachusetts visit Congressman Kennedy on Lobby Day.

Advocates from Massachusetts visit Congressman Kennedy on Lobby Day.

Day 3: Rare Disease Congressional Caucus Briefing

On Wednesday, attendees were invited to attend the Rare Disease Congressional Caucus Briefing. The Rare Disease Caucus was established in 2010 and now encompasses both the House and Senate. The Caucus helps bring Congressional awareness to the needs of the rare disease community and creates opportunities to address roadblocks in access to and development of crucial treatments. The Caucus gives a permanent voice to the rare disease community on Capitol Hill.  

In the briefing policy experts and rare disease stakeholders addressed Congressional staff and the public on issues of importance to the rare disease community. Included in the speakers was ARC CEO Isabelle Lousada, who spoke about the need for modernizing clinical trial designs. She highlighted how hard it is to enroll participants in a rare disease trial, resulting in a lengthy process to get an effective drug to market. She also discussed different trial designs that should be considered such as an adaptive trial design, which allows modifications to the trial and/or statistical procedures after trial initiation without undermining the validity and integrity of the trial making trials more flexible, efficient and fast.

You can view a recording of the briefing below.


Day 4: Rare Disease Day at the National Institutes of Health (NIH)

The last day of the Rare Disease Week wrapped up at NIH where the meeting covered highlights from NIH-supported rare diseases research, an update from the FDA and panel sessions on; gene editing and gene therapy, collaboration in research and engaging young adults in the rare disease community.

The week was a reminder to all attendees that they are not alone in their disease and while the community for a single rare disease may be small, the community of rare diseases as a whole is extremely powerful and has the ability to change the course of rare diseases for the future.

If you would like to learn more about being an advocate for amyloidosis, please contact arc@arci.org.

Pfizer's 2018 Global ASPIRE TTR Amyloidosis Competitive Grants Program

This year’s program seeks applications from junior investigators who are developing their research careers in TTR Amyloidosis.  


Pfizer is pleased to announce the 2018 Global ASPIRE Transthyretin (TTR) Amyloidosis Competitive Research Grant Awards for Junior Investigators. The Global ASPIRE TTR Amyloidosis program underscores Pfizer’s commitment to supporting investigators with an interest in advancing their academic research in TTR Amyloidosis.

Visit www.aspireresearch.org for more information.

The mission of the GLOBAL ASPIRE TTR Amyloidosis program is to support research in basic science and broad clinical research through a competitive grants program that advances medical knowledge in the understanding, diagnosis and treatment of TTR amyloidosis. In-scope research submissions along the entire clinical spectrum of TTR amyloidosis (from TTR familial amyloid polyneuropathy (TTR-FAP) to TTR cardiomyopathy) and including mixed phenotypes are highly encouraged.

Request for Proposals
Pfizer invites junior investigators with a terminal degree (MD and/or PhD and/or PharmD or equivalent) who are developing their research careers in TTR Amyloidosis to apply for the 2018 GLOBAL ASPIRE Awards in TTR amyloidosis through submission of innovative research proposals designed to further improve our understanding of the epidemiology, basic science and early diagnosis and treatment of TTR amyloidosis.

To be eligible for a GLOBAL ASPIRE TTR Amyloidosis award, applicants must:

  • Have a professional terminal degree (MD and/or PhD and/or PharmD or equivalent). Applicants enrolled in a residency, fellowship or postdoctoral program are encouraged to apply.
  • Be developing their research careers in TTR Amyloidosis.
  • Be affiliated with a host institution.
  • Have a mentor or senior investigator participate as a co-investigator.

Note: Members of the 2018 External Review Committee and 2017 ASPIRE awardees are not eligible to apply or serve as mentors or collaborating investigators on applications from other investigators (this includes applications from junior investigators).

Available Awards
Pfizer is funding awards ranging from $25,000 USD to a maximum of $50,000 USD each. All budgets must be submitted in USD and all awards will be paid in USD. Pfizer anticipates awarding up to 3 grants for the 2018 program. Award amounts include direct costs, institutional overhead costs (capped at 28% per Pfizer policy), and indirect costs.

Independent, External Review Committee
Eligible proposals will be reviewed by an independent, external review committee comprised of medical and scientific experts. All reviews will be conducted on a blinded basis.  Applicant identifying information will be redacted from submissions as required to protect and ensure the integrity of the blinded review process.  Grants will be awarded based upon:

  • Scientific merit of the research proposal
  • Qualifications of the applicant
  • Relevance of proposed research to the program's mission
  • Evidence of the applicant's commitment to an academic research career
  • Evidence of a suitable research environment

Application Deadline
Applications must be received by 11:59pm EST on May 14, 2018. Late or draft submissions will not be accepted under any circumstances.

Program Details and Submission Instructions
For more information about this and other competitive research grant programs, please visit www.aspireresearch.org and click on 2018 ASPIRE TTR Amyloidosis.


Can't Attend Rare Disease Week? Five Ways to Participate Remotely

Have your voice heard on Capitol Hill and advocate for amyloidosis.

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Rare disease day is on February 28th and every year the Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases, hosts Rare Disease Week on Capitol Hill. The entire week provides a unique opportunity to raise awareness of key policy issues that affect amyloidosis. Patient organizations, NIH and other government entities, medical researchers and pharmaceutical companies developing treatments for rare diseases all take part in the event.

The Amyloidosis Research Consortium (ARC) is taking advocates from across the country to Capitol Hill for the week where they will learn to be effective advocates and meet with their representatives on the Hill. There they will share their personal experiences with the disease and discuss key policy issues that impact our community.

If you are not able to attend in person you can still participate in activities throughout the week:

  • Monday, February 26th: Watch the livestream of the Legislative Conference to learn about key legislation affecting the rare disease community. You can register for the free livestream here.
  • Tuesday, February 27th: Call your Members of Congress on Lobby Day. You will be able to read about key legislative issues discussed at the Legislative Conference on the RDLA website prior Rare Disease Week. You can find contact information for your elected officials here.
  • Wednesday, February 28th: Join the Rare Disease Congressional Caucus briefing via livestream from 12:30pm–1:45pm EST where ARC CEO Isabelle Lousada will be speaking about modernizing clinical trial design. You can find the livestream here.
  • Thursday, March 1st: Watch the livestream of Rare Disease Day at the National Institutes of Health (NIH). Speakers include leaders from NIH and the Food and Drug Administration (FDA), as well as representatives from a number of patient advocacy groups. You can find the livestream here.
  • Social media: Stay engaged with the activities by connecting on social media. On Twitter follow RDLA @RareAdvocates and ARC @Amyloidosis_ARC and use hashtag #RareDC2018. On Facebook you can follow RDLA and Amyloidosis Research Consortium to get the latest updates.

All the information you need to participate, including key policy issues, can be found here on the RDLA website.

Developing a Blueprint for Amyloidosis Research

ARC holds inaugural Research Strategy Roundtable with leading experts.

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Amyloidosis experts from academia, industry and the FDA met last week for the Amyloidosis Research Consortium Inaugural Research Strategy Roundtable in Miami. The meeting, which brought together representatives from across the research continuum for the first time, was designed to breakdown the typical siloed mentality found in research. This format ensures that together, we invest our combined scarce resources to have the greatest impact for patients. The purpose of the meeting was to co-create a blueprint for amyloidosis research, mapping out the changes needed to accelerate and focus on the research most likely to make a significant and material contribution to improving patient outcomes.

Dr. Vaishali Sanchorawala, Professor of Medicine and Director of Amyloidosis Center at Boston University School of Medicine said, “Until recently, everyone was working in isolation. It was amazing to see the engagement across academia, industry, FDA and ARC at this meeting and I am honored to be a part of a network that is focused on a common goal–patient outcomes.”

Over the two-day meeting, discussions addressed the challenges faced in each of the areas of bench to bedside research in amyloidosis. Panel topics included; research priorities, barriers to diagnosis, evidence development, clinical trial development and market access and health systems optimization.

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Key areas for each topic were prioritized and actions proposed, including the need to develop strategies for identifying better biomarkers and a commitment to sharing resources. These priorities will be written and published this summer as a white paper, creating a template for the amyloidosis research community.

“It was inspiring to see the energy generated from the discussions and synergies created. This can have a significant impact on the research landscape for amyloidosis. Importantly for ARC, the identified priorities will shape our research strategy, particularly with regards to the clinical trials being conducted within our collaborative network,” said Isabelle Lousada, ARC CEO.

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ARC CEO Featured as Rare Leader

Global Genes, a disease advocacy organization, recently interviewed ARC CEO Isabelle Lousada as part of their Rare Leader Profile series. The series gives insight into people who lead rare disease organizations. Below is a copy Isabelle's Q&A that was featured last month.

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Disease focus: Systemic amyloidosis. Amyloidosis is a disorder caused by proteins that possess abnormal conformational features leading them to aggregate and infiltrate tissues in the form of amyloid fibrils. Systemic amyloidosis is a disease that can damage the heart, kidneys, liver, soft tissue and nervous system, resulting in multi-organ failure and death. 

Headquarters: Newton, Massachusetts

How did you become involved in rare disease: I am a patient. I was diagnosed 1996 with AL amyloidosis. I was the fourteenth person in the world to receive an experimental autologous bone marrow transplant for a disease that was untreatable at that time. I am one of the few long-term survivors with AL amyloidosis.

Previous career: I was an architect. I worked on large scale public buildings with concept design.

Education: B.A. and Master’s in Architecture from the University College London.

The Organization

Organization’s mandate: ARC seeks to accelerate the development of new and innovative treatments for systemic amyloidosis while also ensuring pathways to market and patient access.

Organization’s strategy: We have a collaborative model that we’ve used to create a research blueprint through bringing together the key stakeholders across the whole drug development continuum. It’s to ensure that the scarce resources—which in rare disease is not just funding, but also patients, knowledge, and time—are used in a way to have the most significant impact.

Funding strategy: We have a strong, business-minded strategic plan. There are clear and measurable goals that build critical assets that are needed to accelerate research in these diseases. And the reasons to invest are compelling, both for philanthropist with interest in amyloidosis and rare disease, and also industry partners.

What’s changing at your organization in the next year: We are constantly evolving and strengthening our programs. It’s an incredibly exciting time for amyloidosis. There are a number of novel treatments in development, as well as some we hope will be the first approved for our diseases in the next year in the U.S. The landscape is changing and so are the challenges. We still need further research and have to adapt to this changing landscape while ensuring patients have affordable access to the best treatment for them.

Management Style

Management philosophy: In many ways I’m a creative entrepreneur. We embrace rapid innovation, fast experimentation, and find unique ways to create outsized opportunities for our small team to make the largest impact.

Guiding principles for running an effective organization: Never ask anyone to do anything you wouldn’t do yourself. We’ve kept the organization flat and have given people at all levels the ability to challenge the status quo. Also, have great coffee in the office at all times.

Best way to keep your organization relevant: In many ways, I think we take the best of the private sector and apply it to the nonprofit model. We view patients as our customers and are constantly listening to their needs. We bring together new tools, industry resources, scientists, and government to best serve, improve, and learn from our patient population. It’s a continuing learning process.

Why people like working for you: Despite living and breathing, and living the mission of the ARC, I don’t take myself too seriously.

Mentor: Eric Low, former CEO of Myeloma U.K. It is the best model of a rare disease organization, and a guiding light and carved the pathway for an amazing model in rare disease.

On the Job

What inspires you: Patients, patients, patients.

What makes you hopeful: In every challenge there’s opportunity. I believe in my lifetime we have the opportunity to change the course of this disease.

Best organization decision: Hiring people that are smarter than me.

Hardest lesson learned: Learning how to interface with government bodies and heads of agencies when I had little or no experience in shaping policy and how to engage in policy.

Toughest organization decision: Saying “no” to large funding opportunities that wouldn’t directly benefit research in patients.

Biggest missed opportunity: Having a career where I get on a plane and turn left. I’m always down in the cattle class on an airplane rather than in business class, or first class.  

Like best about the job: Succeeding at doing something that hasn’t been done before.

Like least about the job: Negotiating leases.

Pet peeve: Running out of milk in the office when I need a good latte.

First choice for a new career: Cowgirl. My total escape in life is riding horses.

Personal Taste

Most influential bookThe Fountainhead by Ayn Rand, an architectural masterpiece written by an amazing woman.

Favorite movieTo Have and Have Not

Favorite music: Anything sung by a strong female soul singer.

Favorite food: An occasional chocolate eclair

Guilty pleasure: Sneaking out for an early morning ride on my horse called Sabrina.

Favorite way to spend free time: Snorkeling with family.

Highlights from ASH 2017: Research Update

AL amyloidosis takes center stage as ARC board member Dr. Giampaolo Merlini gives the Ham-Wasserman Lecture.

AL amyloidosis was placed in the spotlight at the American Society of Hematology (ASH) annual meeting in Atlanta, Georgia when ARC Board member Dr. Giampaolo Merlini, from the University of Pavia, Italy, gave the prestigious keynote Ham-Wasserman lecture on the first day.

Speaking to an audience of several thousand hematologists, Dr. Merlini provided an overview of the recent advances in several key areas in AL amyloidosis. These included; a better understanding of the molecular mechanisms that give rise to AL amyloidosis; the importance of early diagnosis; the need to tailor treatment to individuals; and the role of cardiac biomarkers at critical stages of the disease particularly at diagnosis, when risk stratifying patients and measuring response to treatment.

Dr. Merlini also discussed the exciting developments in the drug pipeline. He explained how different approaches were being used to target not only the cause of AL amyloidosis but also its consequences, noting how new drugs aimed at accelerating the breakdown and removal of amyloid deposits were showing promising results in clinical trials.

Isablelle Lousada, CEO of the Amyloidosis Research Consortium, said, “We’re very proud that Dr. Merlini was recognized by his peers for his work in amyloidosis and are extremely grateful that he was given such a platform to raise awareness among fellow clinicians."

AL amyloidosis was featured in other scientific sessions where the latest data from a number of clinical trials were shared. In one session, results from two separate Phase II trials of daratumumab for relapsed AL amyloidosis patients were presented back to back. Daratumumab is a monoclonal antibody which targets and destroys the abnormal plasma cells that are responsible for producing the amyloid light chains.

Dr. Vaishali Sanchorawala, from the Boston Medical Center, presented the results from the first trial noting that patients achieved rapid reduction in free light chain levels after the first dose of daratumumab and further reductions with subsequent doses. Patients also showed improved kidney and heart function with continued treatment up to six months. Side-effects associated with daratumumab were mild and easily managed.

Results from the second trial presented by Dr. Murielle Roussel, from the University Cancer Institute of Toulouse, Oncopole, also demonstrated that patients achieved rapid responses with daratumumab. Further analysis showed that those who responded well after the first dose were more likely to achieve a complete or near complete response and have better outcomes.

In other talks, data from a Phase I trial of the novel drug CAEL-101 also showed promise. CAEL-101 is one of a new generation of drugs which works by breaking down the amyloid deposits. When given to AL amyloidosis patients who had already received plasma cell-directed treatment but had persistent organ dysfunction, rapid, early and sustained improvements in organ function were observed. Plans are underway to further investigate CAEL-101 in more patients.

Kristen Hsu, Director of Clinical Research at the Amyloidosis Research Consortium, said, “Step changes are being made in the treatment landscape for AL amyloidosis. The results we have seen here at ASH this year highlight the fact that we are very close to having specific treatments for AL amyloidosis."

Read part one of ARC's ASH recap here.

ARC at ASH: Part 1

The Amyloidosis Research Constortium attends the American Society of Hematology meeting in Atlanta


  (L to R): Isabelle Lousada, Dr. Robert Kyle and Eric Low at ARC's booth at the ASH meeting.

(L to R): Isabelle Lousada, Dr. Robert Kyle and Eric Low at ARC's booth at the ASH meeting.

Every December thousands of physicians, researchers and healthcare professionals gather for the biggest hematology event of the year: the American Society of Hematology (ASH) meeting. ASH is the world’s largest professional society serving clinicians and scientists around the world working in blood diseases. While at the conference, ARC's objectives were to (1) promote amyloidosis awareness and the work of ARC, (2) learn about the latest advances in AL amyloidosis treatment and (3) to collaborate with key stakeholders in the field.

Interest in amyloidosis has significantly grown over the past few years. For the first time, ASH championed amyloidosis, inviting Dr. Giampaolo Merlini, co-chair of ARC's Board, to give the Ham-Wasserman Plenary lecture on AL amyloidosis to a large number of the 26,000 delegates—a hugely significant and exciting moment for everyone in the amyloidosis community. Over the course of the three-day exhibition there was great engagement with doctors, nurses and researchers at the ARC booth. ARC shared updates on our current programs, highlighted our educational and awareness resources, and discussed work going on in amyloidosis research across the world. There was also considerable interest in the latest results from clinical trials of monoclonal antibody therapy in amyloidosis, which you can read about in our scientific round up here.

  Dr. Giampaolo Merlini's lecture on AL amyloidosis at ASH meeting.

Dr. Giampaolo Merlini's lecture on AL amyloidosis at ASH meeting.

As well as exhibiting at ASH, the ARC team arrived in Atlanta a day early to hold a series of meetings with key opinion leaders in amyloidosis. Such meetings are the cornerstone of ARC's collaborative model and crucial in developing the infrastructure needed to accelerate progress in amyloidosis treatment and help patients access and benefit from future treatments as quickly as possible.

The team returned from Atlanta and the excitement of the ASH meeting with new connections made, renewed enthusiasm and invigorated for the growth of ARC programs in 2018! 

You can find more information and pictures from the ASH meeting on ARC’s Twitter @Amyloidosis_ARC and with hashtag #ASH2017.

The Amyloidosis Research Consortium Launches V.2 of Clinical Trial Tool

My Amyloidosis Pathfinder (MAP) is Changing the Way Patients Navigate Their Diagnosis

My amyloidosis pathfinder

The Amyloidosis Research Consortium (ARC) is excited to launch the latest version of the My Amyloidosis Pathfinder (MAP) tool. This groundbreaking tool was created to help connect amyloidosis patients to appropriate treatment centers and clinical trials for their disease. The latest updates will help ARC more effectively manage user data, keep the data secure and share it anonymously with researchers to help drive amyloidosis research forward.

Since the inaugural launch of MAP in March of this year, more than 300 patients and caregivers have signed up for the tool. MAP has successfully matched patients to newly opened clinical trials. Finding the right treatment center is a critical step in getting treatment. MAP also identifies amyloidosis treatment centers with the capability to provide excellent care for their specific type of amyloidosis. ARC provides extensive information on each center, allowing patients to make informed decisions that are right for them.

79% of patients said with better information and access they would consider participating in a clinical trial -- ARC Patient Journey Study, 2015

In addition to matching patients to treatment centers, MAP also matches patients to clinical trials for which they may be eligible. Clinical trials are a critical step in the development of much needed drugs for amyloidosis patients, however, these important trials are often significantly delayed due to lack of participants. This can significantly slow down the rate at which new drugs are discovered, tested and made available to patients. In amyloidosis, clinical trials can be a great way to access promising new treatments.

"The inability to complete trials in a timely manner delays the approval of potentially effective treatments, it represents a huge barrier to the development of much needed treatments for rare diseases such as amyloidosis where no there are no FDA approved therapies." -- Isabelle Lousada, CEO, Amyloidosis Research Consortium

 By providing easy access and trusted support, MAP educates patients about the value of participation. MAP increases enrollment and reduces time for accrual to clinical trials, thereby accelerating the amyloidosis drug development process. Data collected through the online tool also provides valuable information and allows ARC to identify underserved cohorts of patients. This in turn will help inform the design of clinical trials and ensure that research can be conducted efficiently, quickly, and responsibly. MAP is a novel tool in amyloidosis research and ARC is committed to enhancing its capabilites it to help patients find and access the best treatments.

To learn more about MAP, please visit the website: www.myamyloidosispathfinder.org



Save the Orphan Drug Tax Credit!

We need your help! Contact your senators and representatives today!

Earlier this month, House Republicans proposed eliminating the orphan drug tax credit, which was originally passed as part of the Orphan Drug Act in 1983 as an incentive for drug makers to spur the creation of medicines for rare diseases. Now, the House's proposal eliminates the credit completely and the Senate’s version proposes to cut the credit’s value from 50 percent of qualified clinical testing expenses to 27.5 percent.

With nearly 30 million Americans suffering from rare diseases, we need to do better than the current 4 percent of rare diseases that have an approved treatment. Rare disease drug development is already a monumental task and without this life-saving credit, there is little incentive for drug developers to invest in new drugs for these rare diseases.

Here at ARC, we rely heavily on this credit to be able to work alongside drug companies in developing novel treatments for amyloidosis and, in turn, be able to continue making a significant and material contribution to the curability of systemic amyloidosis diseases.  

"Rare disease drug development is extremely challenging - reducing the orphan drug tax credit is a backward step." --  Isabelle Lousada, CEO, Amyloidosis Research Consortium

We applaud the National Organization for Rare Disorders (NORD) for their advocacy efforts and urge you to visit their website to see the ways  you can take action. Please join us and the hundreds of other organizations in this fight to keep the Orphan Drug Tax Credit in its entirety. 


See the Drug Tax Credit coalition letter NORD sent to the Tax Reform Conference Committee here.

Contribute to a Cure. Join our Campaign #10x10x10


Each day we are adding another critical reason for you
to ask 10 friends to donate 10 dollars
to the Amyloidosis Research Consortium


Day 10: Your Partnership

The ARC is heavily reliant on donations and the fundraising efforts of the amyloidosis community, without which, it could not do the important work it does.


Day 9: Committed Team

The ARC’s highly driven, experienced team works tirelessly every day to advance our efforts on behalf of all patients and their families.


Day 8: Benefitting Patients

The ARC is focused on making sure that the patients get access to the best possible treatment and care no matter where they live in the world.


Day 7: Driving Change

The ARC ensures that patients come first by educating and lobbying all those involved in the research, regulation and approval of new treatments.


Day 6: Patient Centric

The ARC is instrumentally involved in the conception, design and management of the clinical trials in our collaborative network to ensure that they are relevant and address unmet clinical need. 


Day 5: Strategic Investment

The ARC strategically invests its funds towards research projects most likely to make a material and significant contribution to improving patient outcomes.


Day 4: Connecting Patients

The ARC is actively connecting amyloidosis patients to clinical trials, giving them access to potential new treatments.


Day 3: Pioneering Advocacy

The ARC is an exemplar model for patient-led research foundations. The work we do and the progress we make with the FDA and other regulatory bodies is helping to pave the way for other diseases beyond amyloidosis.


Day 2: Global Research

The ARC is the only patient-driven organization in the world exclusively focused on amyloidosis research.


Day 1: Improving Diagnosis

The ARC’s awareness and education programs are improving the rate of diagnosis.  
Delayed diagnosis in amyloidosis can be fatal.

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Gene Silencing Holds Promise for Treating Hereditary ATTR Amyloidosis

Latest clinical trial data strengthen the case for new gene silencing drugs, patisiran and inotersen, to become the first FDA approved treatments for hereditary ATTR amyloidosis patients

A novel therapeutic approach which exploits the normal biological process of gene silencing, or RNA interference (RNAi), is continuing to show promise as a potential treatment for hereditary ATTR (hATTR) amyloidosis. Results presented recently at the 1st European ATTR Amyloidosis Meeting for Patients and Doctors held in Paris, France, have further demonstrated the benefits of two such RNAi drugs, patisiran and inotersen, for patients with this type of amyloidosis.

Both drugs work by “silencing” the expression of the mutant TTR gene and therefore stop the production of the misfolded transthyretin protein, the cause of the amyloid deposits in hATTR amyloidosis.

Data from the Phase 3 APOLLO trial for hATTR amyloidosis patients with polyneuropathy were presented after an 18-month follow up. Compared to those in the control group, patients receiving intravenous patisiran had significantly lower circulating transthyretin levels, reduced neurological impairment and fewer cardiac symptoms. In addition, patients reported they were more able to carry out activities of daily living, had better overall health and greatly improved quality of life.

Results from the Phase 3 Neuro-TTR also showed that patients benefited significantly from once weekly subcutaneous injections of inotersen in terms of quality of life and measures of neurological function compared to patients in the control group. These were achieved regardless of disease stage, the presence of cardiomyopathy and type of mutation.

“There is such a huge unmet need in amyloidosis treatment, but these results could pave the way for patisiran and inotersen to become the first approved treatments for hATTR amyloidosis patients” said Isabelle Lousada, CEO of the Amyloidosis Research Consortium.

Inotersen has recently been submitted for regulatory assessment in the United States and Europe while patisiran will follow suit in the coming months.

Isabelle Lousada added “These are exciting times for the amyloidosis community. If successful, inotersen and patisiran will not only be the first for amyloidosis but also the first RNAi-based therapeutic drugs to be approved for use in any disease.”



Physician Spotlight: Dr.Mazen Hanna

"Our patients are what drives us, we want to offer them a better life."


Dr. Mazen Hanna is a cardiologist and current Co-Director of the Amyloidosis Program at the Cleveland Clinic alongside hematologist, Dr. Jason Valent. He has been a member of the heart failure and cardiac transplant unit in the department of cardiovascular medicine since 2006 as well as the Director of the Heart Failure Intensive Care Unit since 2008.

For the past 10 years, Dr. Hanna has taken a special interest in the field of amyloidosis. He first became interested in amyloidosis during his cardiology fellowship where his team diagnosed an elderly woman with AL amyloidosis. From here, his interest grew as he started recognizing more and more cases during his first two years as a staff member at the Cleveland Clinic. After connecting with Dr. Merrill Benson about a particular patient, Dr. Hanna was introduced to and subsequently invited amyloid specialist, Dr. Rodney Falk, to speak about cardiac amyloidosis at the Cleveland Clinic as a visiting professor. Dr. Falk went on to became Dr. Hanna’s mentor over the following years, helping him develop his interest and expertise in the field of amyloidosis.

Now Dr. Hanna has built strong clinical and research practices in amyloidosis at the Cleveland Clinic. His clinic treats both AL and ATTR amyloidosis and collaborates with specialists from other fields to provide thoughtful and comprehensive care. On his colleagues, Dr. Hanna boasts, “They take fantastic care of their patients and have an excellent collaboration with our transplant teams. They have an experienced bone marrow transplant team, and in 2014 performed their first heart transplant followed by stem cell transplant for a patient with AL who is now doing very well. The clinic also has experience in liver and heart transplants for hereditary ATTR patients and offers many clinical trials in both AL and ATTR, including trials of NEOD001 and tafamidis".

In 2015, one of Dr. Hanna’s patients made a 2 million dollar donation dedicated to research of amyloid heart disease. These funds have allowed him to hire a research staff and pursue investigator-initiated studies. Currently, he is leading a study looking at the incidence of amyloid in tissue samples taken from elderly patients undergoing carpal tunnel surgery. Dr. Hanna is dedicated to collaborative research, working with physicians across the globe, and is focused on the future of amyloidosis, stating, “I am hopeful that we will continue to make progress to fight amyloid heart disease. It is an honor to work with such a collaborative community of scientists and physicians of different specialties who come together to further knowledge and develop treatments. Our patients are what drives us, we want to offer them a better life.”


Northern California Support Group Meeting and Patient’s Day Hosted by Prothena

“Everything we do starts and ends with patients, so spending time with patients who are dealing with devastating diseases like AL or ATTR amyloidosis is central to our ability to keep these perspectives in mind."

At Prothena, we focus on how our science can be translated into medicines for important diseases. We also love talking about our science, so hosting the ARC at Prothena for a support group meeting provided an incredibly rich learning opportunity and dialogue that we look forward to continuing.”  Sarah Noonberg, MD, PhD, Chief Medical Officer

The Northern California Amyloidosis Support Group which meets quarterly every year, held their 14th annual anniversary meeting in July in South San Francisco.  The event was hosted by the team at Prothena and was a very successful Patient’s Day event with 67 patients and caregivers in attendance. Patients traveled from as far away as Southern California and the Sierra Foothills to participate.  Our agenda included presentations from three Prothena scientists whose slide shows reinforced our growing knowledge of amyloidosis and delighted us with actual microscopic images of macrophages “consuming” the mis-folded light chains.

Patients are our motivation and addressing unmet medical needs guides the work of our scientists.  We don’t have too many opportunities to meet the people who might one day benefit from the medicines we are working on in our labs, but when we do, we always learn something incredibly valuable and leave with renewed inspiration. Working with ARC always provides a great way for us to keep the patient voice in focus.” Wagner Zago, PhD, Chief Scientific Officer

Another highlight of our meeting included tours of the research labs at the beautiful new Prothena facility where group members could see the science in action, up close and personal, and where even the most challenging questions from patients and caregivers were thoughtfully addressed.

 “Working in biotech is incredibly rewarding because there is always the potential to see your efforts translated into a product that enhances length or quality of life for patients. Getting the science right is the first step, but engaging with patients and patient advocacy groups is an incredibly important part of our work because it helps us to understand what people with devastating diseases are dealing with and what is important to them.” Enchi Liu, PhD, Program Team Leader

Rounding out our very busy event were two key amyloidosis physicians from the University of California San Francisco Medical Center – cardiologist Van Selby and hematologist Sandy Wong with 90 minutes of patient Q&A.  Always generous with their time Drs. Selby and Wong are working together at UCSF to build the multi-disciplinary amyloidosis team there and to implement amyloidosis clinical trials. 

For more information on the Northern California Support Group contact Dena Heath: dheath@arci.org