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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Support research and spread awareness


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

Cardiac AL Amyloidosis Patients Experience Delays in Diagnosis

Data from Recent ARC Study on Patient Journey to Diagnosis 

A survey of patients with all forms of cardiac amyloidosis and their caregivers was conducted in order to understand delays, errors, and inconsistencies in the diagnostic pathway for patients with cardiac amyloidosis and validated using caregiver responses. Data from AL amyloidosis patients was presented at the European Hematology Association (EHA) Madrid Conference in June.

The online survey was developed by the ARC and distributed to the patient mailing lists of ARC, the Amyloidosis Foundation, and Amyloidosis Support Groups in January 2017. Data collected from both patients and their caregivers, documents the initial symptoms and their journey to diagnosis of over 313 AL amyloidosis patients.

This represents the first survey compiling both caregiver and patient experiences with AL amyloidosis. Patients with AL cardiac amyloidosis frequently receive misdiagnoses and sometimes receive incorrect treatment for the misdiagnosed condition. Disease awareness among all specialists is vital, especially among those to whom patients are initially referred due to the nature of their initial symptoms. The data highlights the vital importance of education and awareness in the community to prevent the significant delays patients often experience in gaining the correct diagnosis.

 click on image to enlarge poster

click on image to enlarge poster


The New FDA Commissioner

Physician and cancer survivor, Dr. Scott Gottieb, appointed new FDA Commissioner on May 11, 2017.

Scott Gottlieb.png

Dr. Scott Gottlieb has been appointed the commissioner of the Food and Drug Administration (FDA). He is a physician and a cancer survivor, having been successfully treated for Hodgkin’s lymphoma.

Gottlieb has previously commented that the agency's current focus on statistics rather than good medicine is making it too difficult for drugs, especially orphan drugs, to get approved.

The National Coalition for Cancer Survivorship, for which Gottlieb served as a policy advisor, strongly endorsed his nomination to head the FDA, saying he “understands the human toll cancer takes on individuals and families, during both treatment and long-term survivorship. He is open to a wide range of perspectives, including those of the patients whose lives depend on a strong FDA.”

In a statement, Tom Price, the secretary of Health and Human Services, said Dr. Gottlieb’s “background will be crucial” for maintaining the FDA’s high standards for safe treatments “while advancing new, innovative solutions” to the nation’s public health challenges.

In rare diseases, the evaluation of new treatments is often challenging.  We are hopeful that Dr. Gottlieb will champion the need for the FDA to be efficient and patient-focused in the evaluation of vital new therapies for rare diseases like amyloidosis.


Coming Together to Make a Difference

ARC Industry Advisory Council Charts a Course for Collaboration

The ARC held its biannual Industry Advisory Council meeting in Boston on March 27th, 2017. The day-long meeting was attended by representatives from pharmaceutical and biotech companies developing new treatments for amyloidosis.  This provides a unique opportunity for these companies to unite and develop partnerships of mutual interest.

Part of the modus operandi of the Amyloidosis Research Consortium is to foster cross-company conversations in order to identify areas of resource-wasting replication.  Precompetitive research, educational awareness programs, and developing a streamlined strategy are primary focal points.

Joining us were the following companies that all have drugs in clinical trials for amyloidosis.

  • Alnylam
  • GSK
  • Ionis
  • Janssen
  • Pfizer
  • Prothena
  • Takeda

We were delighted to welcome two new companies to the council for the first time that have products in early stage development.

  • Caelum
  • Intellia

At the meeting the following areas were prioritized:

  • Market access  
  • Epidemiology
  • Awareness
  • Early detection/diagnosis
  • Clinical endpoints and QOL/PROs

 Participating companies will be partnering with the ARC to develop strategies and launch work streams to address them. We look forward to sharing more details on these key areas in the near future.


Rare Disease Week Needs You

Participate as an Amyloidosis Advocate

Rare disease day is on 28th February. 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 this annual event.

The Amyloidosis Research Consortium is taking six 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 join us and our advocates at Rare Disease Week in D.C., February 27th through March 2nd, you can still make your voice heard on Capitol Hill and participate in some of the programming.

Here are four ways to participate remotely:

  1. Watch the livestream of Rare Disease Day at the National Institutes of Health (NIH) on Monday, February 27th. 
  2. Watch the livestream of the Legislative Conference on Tuesday, February 28th
  3. Call your Members of Congress on Lobby Day on Wednesday, March 1st.
  4. Email your Members of Congress on Lobby Day on Wednesday, March 1st. 

All the information you need to participate including key messages to share with your members of congress, can be found here at the EveryLife Foundation Website


21st Century Cures Holds Promise for Amyloidosis

The act signed into law brings the patient voice into sharp focus.

On December 13th, President Obama signed into law the 21st Century Cures Act, a game-changing bill for medical innovation. We are very grateful to Representatives Fred Upton (R-MI) and Diana DeGette (D-CO), as well as members of their staff, for their impressive work and commitment to this bill and for incorporating the feedback from groups like ours in the rare disease community.

“Passage of the 21st Century Cures Act is the culmination of several years of hard work and advocacy by many rare disease patient advocates and patient advocacy organizations,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD).  The Amyloidosis Research Consortium and our committed patient advocates are proud to have played a part in seeing this Act come into law.

The bill includes many provisions that will enhance and improve the discovery, development, and delivery of orphan therapies for rare disease patients, including:

    Streamlining of U.S. Food and Drug Administration (FDA) review of genetically targeted and protein variant therapies for rare diseases;

    Creation of funds in the amount of $4.8 billion over 10 years for the National Institutes of Health (NIH) to include funds for the Precision Medicine Initiative, and the Cancer Moonshot;

    Further expansion of the Patient-Focused Drug Development Initiative and requirements for the FDA to report on how patient experience data was used in regulatory review.

The ARC is the first patient-led foundation to hold a Patient-Focused Drug Development meeting in parallel with the FDA’s initiative. This new law rightly recognizes that patients should play an essential role in the development of drugs and devices to diagnose and treat diseases. Patients are in a unique position to provide essential insights about what it is like to live with and fight their disease. The 21st Century Cures Act will enhance these ongoing efforts to better incorporate the patient’s voice into the FDA’s decision-making process.


ARC Submits Guidance on Drug Development in AL Amyloidosis to FDA


The Amyloidosis Research Consortium (ARC) submitted a draft guidance for industry on developing drugs for AL amyloidosis to the Food and Drug Administration (FDA), to improve the design of clinical trials and accelerate the review of Potential therapies.

Patients with AL amyloidosis are often treated off-label with drugs that are indicated for the treatment of multiple myeloma.

“We are not seeing the improvement in outcomes for patients with AL amyloidosis that we are seeing in myeloma. Therapies developed and approved specifically for AL amyloidosis are vitally needed,” said Isabelle Lousada, CEO of the Amyloidosis Research Consortium. In September 2015, the ARC held a roundtable meeting of leading experts, industry representatives and members of the FDA to develop a pathway for drug development in amyloidosis.  As a result of this roundtable meeting, it was agreed that a draft guidance document should be produced. Crafting this guidance involved active participation from all stakeholder groups including patients, medical experts, academics and biopharmaceutical industry representatives.

“Barriers to developing new medicines for rare diseases like amyloidosis stem from challenges of small study populations and an evolving understanding of disease physiology, which can make clinical trial design complex,” commented Spencer Guthrie, Head of Medical Affairs at Prothena Biosciences. “Clear guidance from the expert community can help to optimize clinical trials to better meet the needs of patients.”

The guidance proposes clinical trial designs that account for the impaired cardiac and renal function in AL amyloidosis patients, and include broad patient populations with few eligibility restrictions. The guidance also encourages using free light chains (FLC) or N-terminal pro-brain natriuretic peptide (NT-proBNP) measurements as surrogate endpoints, rather than evaluating overall survival.

In November 2015, the ARC held a public meeting including patients, amyloidosis expert physicians from around the world, and regulators at the US Food and Drug Administration (FDA). More than 240 people attended, with patients communicating the huge unmet need for new medical treatment options, the urgency to cut down lengthy development timelines and the desire to make these therapies available to patients with AL amyloidosis. This resulted in “The Voice of the Patient" document that the ARC released earlier this year, reflecting patient's perspectives. This publication, in concert with the draft guidance, provides multifaceted resources to improve and accelerate a drug development pathway for AL amyloidosis. 

Remembering Dale Schenk

A pioneer in developing treatments for amyloidosis and neurodegenerative diseases

 Dale was committed to improving patients lives. He is shown here surrounded by amyloidosis patients and caregivers, at Prothena's office in San Francisco, 2015

Dale was committed to improving patients lives. He is shown here surrounded by amyloidosis patients and caregivers, at Prothena's office in San Francisco, 2015

Dale Bernard Schenk devoted his life to understanding enough about neurological diseases, such as Alzheimer’s and Parkinson’s diseases, to conceive of innovative therapeutic strategies that are now being evaluated in multiple placebo-controlled clinical trials. These pioneering efforts have been recognized by several awards, including the American Academy of Neurology’s Potamkin Prize for research in Alzheimer’s disease. Dale died Sept. 30 at his home in Hillsborough, California, at the age of 59, from pancreatic cancer. He is survived by his wife, Elizabeth, and their children Max and Sam, and two children, Anais and Sara, from a previous marriage to Maria Torres, who died in 2005.

Dale Schenk was born May 10, 1957 in Glendora, California to Walter Bernard Schenk, a firefighter, and Rosemary Schenk, a family therapist. He received an undergraduate degree in biology in 1979 from the University of California at San Diego, where he stayed on to earn a Ph.D. in physiology and pharmacology in 1984. In 1987, Dale joined Athena Neurosciences Inc. in San Francisco, a company founded by his long-time collaborator Dennis Selkoe of Harvard University. Dale was director of neurosciences.

Schenk became very well known for his work at Athena Neurosciences and later at Elan Corporation, where he helped devise a vaccine strategy to ameliorate Alzheimer’s disease. The hypothesis being that vaccination of Alzheimer’s patients with Beta-amyloid intramuscularly would generate antibodies that would target beta-amyloid in the brain for removal. beta-Amyloid builds up in the brains of Alzheimer’s disease patients as amyloid fibrils, apparently causing the initial phase of neurodegeneration in this disease affecting ≈ 10 million patients worldwide. There were compelling indications that this novel, so-called active, immunization strategy might impede disease progression, although neuroinflammation in some patients led Dale and others to develop second-generation vaccines that did not induce neuroinflammation. Subsequent autopsies of some of the patients enrolled in the initial vaccine trial and later succumbing to unrelated causes revealed that they had less amyloid buildup in their brains, providing further evidence that removing the amyloid fibrils could offer an avenue to treat this form of dementia.

This creative and insightful work led Schenk and others to come up with the passive immunization strategy for Alzheimer’s disease—the concept of using periodic peripheral injections of tailored antibodies to remove beta-amyloid fibrils from the brain. Some of these trials showed clearance of amyloid without cognitive benefits, although many experts now believe that the patients enrolled were too late-stage to see cognitive benefits. Thus, numerous passive immunization trials are underway testing Dale’s strategy in early stage Alzheimer’s patients. There is reason to be optimistic that this innovative strategy will become a first-in-class disease-modifying approach to slow the progression of Alzheimer’s disease.

Owing to these contributions and many others, Schenk was promoted at Elan, rising to Chief Scientific Officer and Executive Vice President. Dale left Elan to co-found and lead Prothena as CEO in 2012. Prothena continues to grow, currently exhibiting a current market valuation of $2.06 billion. The company’s top development projects include passive immunization strategies to treat two different amyloid diseases: light chain amyloidosis and Parkinson’s disease, the latter in collaboration with Roche.

Dale’s creativity, humor, quick smile and steady hand in treating these very challenging neurodegenerative diseases will truly be missed by the patients, the scientists and the treating physicians. Just before co-founding Prothena, Dale initiated a close collaboration with Christopher Dobson and colleagues at Cambridge in the UK to discover a pharmacologic strategy for Parkinson’s disease and other neurodegenerative disorders.  The idea is to suppress at the earliest possible opportunity the aberrant processes through which protein aggregation results in the generation of highly toxic species, and hence to allow our natural defense mechanisms to maintain their efficacy for longer periods of time. This program has been extremely successful, and Dale was a constant source of inspiration and ideas. His regular visits to Cambridge were anticipated with great excitement by all those involved in these studies. I (CMD) last saw Dale in Sweden in July and he was as keen as ever to be brought up to date on the latest developments, and as full of suggestions as ever. With his passing we have lost a kind and generous colleague whose infectious enthusiasm and constant encouragement brought out the best in everyone with whom he worked.

You will be missed our friend.

Jeffery Kelly and Christopher Dobson


Dr. Jeffery Kelly is the Lita Annenberg Hazen Professor of Chemistry and Chairman, Department of Molecular and Experimental Medicine at Scripps Research Institute and a member of the ARC's Collaborative Network Steering Committee.
Professor Christopher Dobson is the John Humphrey Plummer Professor of Chemical and Structural Biology Master of St John's College, Cambridge.