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

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 Amyloidoisis 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.

Amyloidosis Voice at Global Genes Summit

Amyloidosis Voice at Global Genes Summit

On September 22nd and 23rd two members of the Amyloidosis Research Consortium were invited speakers at the Global Genes 5th Annual RARE Patient Advocacy Summit event in Huntington Beach, California. 

ARC Founder and CEO, Isabelle Lousada, delivered a presentation on The Patient's Role in Drug Discovery: Pre-Clinical Tools and described the work that is accomplished through the ARC’s collaborative network of leading experts to identify and validate biomarkers. This work is vital to improving and accelerating drug development in amyloidosis.

 

ARC Board of Directors member, Dena Heath, addressed Regulatory Advocacy: Patient Organization Case Studies on Working with the FDA. Dena presented the impressive portfolio of work that has been done through the ARC to engage the FDA and raise their understanding of amyloidosis, in order to create a better environment for evaluating novel treatments for these diseases.

 

It was an honor to be asked to speak at this outstanding RARE Patient Advocacy Summit and to be among an extraordinary group of rare disease patients and advocates, scientists, medical experts, regulatory experts, and the passionate and determined individuals and teams from rare disease organizations around the USA.

 

About Global Genes

Global Genes® is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community. What began as a grassroots movement in 2009, with just a few rare disease parent advocates and foundations, has since grown to over 500 global organizations. Learn more at: globalgenes.org

 

The Amyloidosis Research Consortium is a member of the Global Genes RARE Foundation Alliance, which is a coalition of over 300 rare disease organizations that understand that together we are more powerful. The alliance partners exchange best practices and share their lessons learned in order to drive better outcomes for the entire rare disease community, and creates a culture of collaboration to maximize  "The Power of the Collective Impact." 

Calling all Cardiologists

 

ARC is supporting a Satellite Symposium at the Heart Failure Society of America (HFSA) Meeting, 4-6pm, September 17, 2016

Cardiologists miss the diagnosis of amyloidosis more frequently than any other discipline. Don't be one of them. Join ARC for an exciting CME Satellite Symposium at HFSA, entitled Cardiac Amyloidosis: A Multidisciplinary Approach to Understanding, Diagnosis and Treatment. The distinguished panel of speakers includes:

Mark Semigran, MD Associate Professor of Medicine, Harvard Medical School, Medical Director, Heart Failure and Cardiac Transplant Program, Massachusetts General Hospital

Martha Grogan, MD Assistant Professor of Medicine, Mayo Medical School, Department of Cardiovascular Diseases, Mayo Clinic

Frederick Ruberg, MD Associate Professor of Medicine and Radiology, Boston University School of Medicine, Director, Advanced Cardiac Imaging Program Section of Cardiovascular Medicine and Amyloidosis Center, Department of Medicine, Boston Medical Center

James Stone, MD, PhD  Associate Professor of Pathology, Harvard Medical School, Head of Cardiovascular Pathology, Department of Pathology, Massachusetts General Hospital

Angela Dispenzieri, MD Professor of Medicine, Professor of Laboratory Medicine and Pathology, Mayo Medical School Division of Hematology, Department of Internal Medicine, Mayo Clinic

 

 

Seminal ARC Manuscript Published on Use of NT-proBNP as Endpoint in Pivotal Trials

Amyloidosis Research Consortium Announces Publication of Seminal Manuscript in Peer-Reviewed Journal Leukemia Encouraging Use of NT-proBNP as Endpoint in Clinical Trials

 

       International AL amyloidosis expert community agrees N-terminal pro-brain natriuretic peptide (NT-proBNP) is analytically validated and clinically qualified to be used as a surrogate endpoint for survival in clinical trials of patients with AL amyloidosis

       Use of NT-proBNP as surrogate endpoint will greatly facilitate the development of targeted therapies for AL amyloidosis

       ARC actively working to validate NT-proBNP through U.S. Food and Drug Administration biomarker qualification program

 

BOSTON, Mass. – July 20, 2016 – The Amyloidosis Research Consortium today announced the publication of a landmark paper concluding that NT-proBNP response, a clinically- and analytically-validated functional biomarker predictive of survival for patients with AL amyloidosis, should be accepted as a surrogate end point for survival in pivotal clinical trials to greatly facilitate the development of targeted therapeutics. The pivotal paper was published by leading experts in the field in the current issue of the peer-reviewed journal Leukemia and can be accessed here.

 

AL amyloidosis is an ultra-rare, progressive and fatal disease characterized by the accumulation of abnormal, misfolded protein (amyloid) in various tissues and organs. This amyloid protein builds up in the heart, kidneys, liver, soft tissue, and nervous system, resulting in multiorgan failure and death. As many as 70% of patients with AL amyloidosis have accumulations of amyloid in their hearts that will lead to cardiomyopathy and ultimately to death. No therapies have been approved for the treatment of patients with AL amyloidosis, or any form of systemic amyloidosis, in the United States.

 

“NT-proBNP has emerged as an analytically validated, gold standard biomarker for the determination of cardiovascular risk and disease in patients with AL amyloidosis,” said Giampaolo Merlini, MD, of the Amyloidosis Research and Treatment Center at the University of Pavia and IRCCS Policlinico San Mateo in Italy, and senior author of the study. “In five independent studies in almost 1500 patients, NT-proBNP responses consistently reflect changes in cardiac function and predict survival in patients with AL amyloidosis after interventional treatment. Importantly, NT-proBNP predicts clinical outcome and survival independent of therapy type, treatment class or regimen.”

 

“A significant barrier to therapeutic development is posed by all diseases that are serious but rare, as traditional clinical trials with clinical endpoints such as survival and progression free survival are difficult, if not impossible to conduct,” said Raymond L. Comenzo, MD, a study author and Founding Director of the John Conant Davis Myeloma and Amyloid Program and Director of the Blood Bank and Stem Cell Processing Laboratory at Tufts Medical Center. “The amyloidosis expert community is in agreement that NT-proBNP should be used as a surrogate end point for survival in patients with AL amyloidosis with cardiac involvement.”

 

Overall survival as an endpoint requires a larger study population and a longer assessment period, where the use of NT-proBNP as a surrogate endpoint may require less than half the time. In 2012, the International Society of Amyloidosis (ISA) established and validated NT-proBNP response as an indicator of organ response and as a surrogate marker of survival in AL amyloidosis.

 

In November 2015, the Amyloidosis Research Consortium held a public meeting including patients, expert physicians from around the world, and regulators at the US Food and Drug Administration (FDA). More than 240 people attended, with patients voicing 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 in a timely manner. This publication adds to a multifaceted strategy to accelerate the drug development pathway for patients with amyloidosis.

 

The 2012 FDA Safety and Innovation Act (FDASIA) created new opportunities to use surrogate end points to bring new therapies to patients with rare diseases in an expedited manner. The consensus among AL amyloidosis experts is that NT-proBNP is the only clinically validated surrogate end point for survival after treatment. Lowering NT-proBNP and achieving NT-proBNP response is the ultimate treatment objective that should be accepted as a surrogate for survival in AL amyloidosis clinical trials for patients with cardiac involvement. 

 

Isabelle Lousada, founder and CEO of the Amyloidosis Research Consortium and an amyloidosis patient commented, “We believe that using NT-proBNP as a surrogate endpoint for survival represents a concrete, positive movement toward the rapid assessment of new therapeutics for AL amyloidosis and we are working with the FDA to validate NT-proBNP through the biomarker qualification program, to potentially save many lives.”

 

About the Amyloidosis Research Consortium

The Amyloidosis Research Consortium was established to address critical needs in clinical trials and related research for the underserved group of systemic amyloid diseases. It brings together experts in the field to address the challenges that exist in developing diagnostic tools and carrying out collaborative and innovative clinical trials. The Amyloidosis Research Consortium is committed to building collaborative relationships between patients, academia, industry, foundations, federal funders, and regulators to facilitate and speed new therapies to market. The Amyloidosis Research Consortium is focused on increasing the amount of research in amyloidosis and building a prioritized portfolio of translational research and clinical research. Its aim is to address the urgent, unmet medical needs in patients with amyloidosis. For more information, visit www.arci.org.

 

Recently, ARC launched The Amyloidosis Clinical Resources App to serve as a mobile resource for healthcare professionals faced with the complex clinical presentations of this rare and difficult to diagnose disease. It includes definitions, etiology, pathogenesis, and clinical suspicion and diagnosis of AL, ATTR types, and AA amyloidosis as well as a collection of interactive tools, novel agents, clinical trials and additional resources. It is available for FREE and can be downloaded to a tablet or smartphone from iTunes and GooglePlay.

 

# # #

 

Contact:

Isabelle Lousada

Amyloidosis Research Consortium

Ilousada@arci.org

617-899-8810

Report from International Symposium on Amyloidosis

The 2016 International Symposium on Amyloidosis was held in Uppsala, Sweden in early July. Over the years the meeting has grown in size and it was impressive to see over 400 scientists and experts come together to spend three days sharing knowledge and learning more about amyloidosis. ARC’s booth, presentations and meetings highlighted the important role and achievements of the Amyloidosis Research Consortium, as well as an opportunity to bring together all stakeholders to work on collaborative initiatives moving forward.

Inaugural Meeting of ARC's Collaborative Network

ARC held a number of key meetings, bringing together industry partners, patient representatives and experts to discuss registries and research programs that will advance our knowledge and support the development of new treatments. ARC hosted the first meeting of the Collaborative Network. The network stretches across the globe, and is made up of twenty-four amyloidosis centers, each one having met rigorous criteria. The Clinical Network is focused on expediting and optimizing clinical research through efficient clinical trial design, accelerating accrual, sharing data and addressing the barriers that slow down the delivery of promising therapies. It was a great evening and we look forward to announcing the initial studies soon.

 

ARC booth

The only nonprofit organization represented by a booth, ARC Director Dena Heath staffed the booth for the duration of the conference. She spoke with doctors and scientists from around the world, sharing the ARC mission of accelerating the development of advanced diagnostic tools and effective treatments for systemic amyloidosis through collaboration and innovation.   Ms. Heath also presented the new Amyloidosis Clinical Resources App for smart phones and tablets and the two new laminated pocket cards for health care professionals – the Cardiac Alert pocket card and the Clinical Trials pocket card. 

IMG_20160703_181624.jpg

ARC poster

One of the challenges faced by amyloidosis is the time that it takes to get diagnosed and the number of physicians who miss the diagnosis. Resulting from the critical study ARC conducted last year identifying which specialties are most likely to miss the diagnosis, a roundtable of cardiologists was convened to identify programs to impact early and accurate diagnosis of amyloidosis. The results were shown as a poster presentation entitled Recommendations from the Amyloidosis Research Consortium Educational Roundtable at the American Cardiology Annual Meeting, April 1, 2016, by Mat Maurer, et al.

The poster was interactive with many attendees at the meeting contributing ideas to best address these initiatives.

International Patient Support Group Leader Meeting

The European patient support group leaders participating in the conference organized a joint meeting and planning session.  Countries represented included Brazil, Sweden, Spain, Portugal, France, Germany, Italy, Netherlands, Israel, and Japan. ATTR amyloidosis patient numbers are consistently higher in the EU and South American support groups than they are in the U.S.  groups.  These group leaders are working hard to build their alliances, expand their patient access, and work as a united voice for patients in their countries and in the amyloidosis community as a whole.  The ARC was invited to attend this session and to share the amyloidosis resources here in the U.S. including the new APP, the websites and the ATTR patient meeting held every other year in Chicago.

We look forward to participating again at the 2018 ISA meeting in Kumamoto, Japan. 

Focus on Heart Failure Nurses

“Save one life and you’re a hero, save one hundred lives and you’re a nurse.”

This anonymous quote highlights the important role of nurses in the medical profession. With this in mind, the ARC participated in the American Association of Heart Failure Nurses (AAHFN) conference held June 22-24 in Scottsdale, AZ.

Cardiac involvement due to amyloidosis is a progressive disorder that can result in early death and a patient can often experience congestive heart failure (CHF) and arrhythmias. We were pleased to expand medical community awareness by hosting a special Amyloidosis Focus Group for nurses, which included a presentation on heart failure HFpEF and amyloidosis presented by Cindy Bither, President-elect of the AAHFN, as well as a presentation by Dena Heath on the ARC and the new Amyloidosis Clinical Resources App.

Our participation also included an information booth where we spoke with many nurses that were extremely interested in learning everything they could about the disease.  The ARC provided our newest tools for improving earlier diagnosis and treatment – The Cardiac Alert and Clinical Trials pocket cards that we developed for healthcare professionals.  We also demonstrated the new Amyloidosis Clinical Resources App recently launched at the American College of Cardiologists Conference in Chicago, which is available for free on the iTunes App and Google Play stores.

At the ARC, we are working diligently to breakdown the awareness, research and drug development barriers that are often overlooked.  A significant obstacle is the information and communication gap between the patient and his or her team of doctors.  Nurses play a significant role in bridging this gap, often as the “front door” to diagnosis and treatment.  The amyloidosis information provided by the ARC was very well received at this conference, with heart failure nurses around the country responding to our call for action.

ARC Educational Power Pack for Healthcare Professionals

As part of our mission to improve early diagnosis and accelerate amyloidosis treatment, the ARC has developed a set of very easy to use “tools” and educational documents that we distribute at all meetings and conferences in which we participate.  These include the following:

 

Bookmarks

Two sets of bookmarks containing the statistics from an online survey of patients, outlining the long duration it took them to achieve an accurate diagnosis as well as the number of physicians that patients had to see before receiving a diagnosis.  These bookmarks include one specific to cardiac amyloidosis and a more general one for various types of amyloidosis.  The statistics from this survey resulted in published posters, abstracts, and a white paper.  

 

Laminated Pocket Cards

The Clinical Trials Pocket Card identifies current clinical trials and their key inclusion criteria for AL Amyloidosis and ATTR Amyloidosis.  These pocket cards are updated quarterly to keep them current. 

The Cardiac Alert Pocket Card identifies “low voltage” EKGs in combination with ECHO images of increased ventricular mass, which are very specific for amyloid and should trigger additional testing to confirm amyloidosis.  

These pocket cards are valuable to physicians, nurses, sonographers, and EKG technicians and both pocket cards can be ordered through the arci.org website.

 

Amyloidosis Clinical Resources App

A rare and challenging set of diseases, including AL light chain, ATTR (hereditary transthyretin), AA (secondary), and TTR wild-type are in our new app.  The Amyloidosis Clinical Resources App provides clinically relevant information that offers healthcare professionals a disease overview and interactive tools to assist with earlier diagnosis and therapeutic intervention. It contains easily accessible disease information - right in your coat pocket on your smart phone.  The app also provides a wealth of physician and patient resources including educational webinars, treatment centers and patient groups around the world.  

The Amyloidosis Clinical Resources App is FREE and available on the iTunes App store and the Google Play store.  (Search Amyloidosis Clinical Resources.)

 

The "Advancing Research Through Partnership" Flyer

This flyer details the ARC in the research landscape - bringing together researchers, advocates, industry, key opinion leaders, educators and government regulators.  This tool expands on our achievements in patient advocacy; our collaborative work in building a network of core amyloidosis treatment centers; and our MAP project, an amyloidosis clinical trial finder tool which will be launched this year to support and encourage patients to explore clinical trials.

Phone Interview Research Study AL, ATTR and AA Patients

Phone interview research for patients diagnosed with Amyloid Light-Chain(AL), Transyretin (TTR), or Amyloid Protein (AA) Systemic Amyloidosis

The purpose of this phone interview research study is to gather information about the symptoms and experiences of patients with Amyloid Light-Chain (AL), Transthyretin (TTR), or Amyloid A Protein (AA) Systemic Amyloidosis, in order to develop a questionnaire for future research studies. The interview would last approximately 75 minutes, and you would be compensated for your time. There is no medication administration involved with this study. This study will be conducted by ICON, a health research organization. This study is sponsored by GlaxoSmithKline. Please note that GlaxoSmithKline will not receive any identifying information, and any information that you provide will be reported in a way that protects your privacy and anonymity.

 

Contact:

If you live in the United States and would like more information about this study, please email Kelly Lipman at 0018-0665-AmyloidosisQual@iconplc.com  or call 1-866-893-0282.

ARC Builds Bridges with Nursing Community

"Save one life and you're a hero, save one hundred lives and you're a nurse."

 

This anonymous quote about the role of nurses in the medical profession embodies our decision to participate in the American Association of Heart Failure Nurses (AAHFM) conference held June 22-24 in Scottsdale, AZ last week.

Because cardiac involvement due to amyloidosis is a progressive disorder that can result in early death due to congestive heart failure (CHF) and arrhythmias we used this opportunity to connect with and educate about 500 cardiac failure nurses.

ARC was asked to host a Focus Group for nurses with a presentation on heart failure HFpEF and amyloidosis presented by Cindy Bither, President Elect of the AAHFN, and a presentation by Dena Heath on the ARC and the new Amyloidosis Clinical Resources App.

Our participation included an information booth where we spoke with many nurses very interested in learning everything they could about the disease.  These cardiac nurses represented various roles within hospitals large and small and within cardiac practices throughout the US.  We provided our newest tools for improving earlier diagnosis and treatment – The Cardiac Alert and Clinical Trials pocket cards developed specifically for healthcare professionals.  We also highlighted the new Amyloidosis Clinical Resources App recently launched at the American College of Cardiologists Conference in Chicago in April and available free on the iTunes App Store and the Google Play store.

At the ARC we are working very hard to breakdown the many barriers to research and drug development but an often overlooked and very critical barrier is the communication barrier between the patient and his or her team of amyloidosis experts.  Nurses play a significant role in bridging this, and other communication barriers, often as the “front door” to diagnosis and treatment. We believe educating them about amyloidosis is one more opportunity to accelerate diagnosis and treatment. 

ARC Creates Pathway for Patient Engagement with FDA

Much has been said about the need to put patients at the center of drug development. The Amyloidosis Research Consortium (ARC), is doing just that. The FDA's Patient-Focused Drug Development initiative is a commitment under the fifth authorization of the Prescription Drug User Fee Act (PDUFA V) that aims to more systematically gather patient perspectives on their condition and available therapies to treat their condition. This initiative gives patients with a particular disease the opportunity to share their personal experiences and to highlight the unmet needs of patients affected by the disease.

 

ARC is concerned, with drugs in development for amyloidosis, that the FDA should have full knowledge of the impact of these diseases. To meet the unmet needs of amyloidosis patients it is imperative for the FDA to have a better understanding of amyloidosis patients and ARC was not prepared or willing to wait years for the opportunity to have the voices of amyloidosis patients heard.  ARC is the first organization to work independently with the support of the FDA to plan and deliver a Patient-Focused drug development meeting, and report. The meeting was held last November and written up in a previous post entitled: Patient Forum with FDA

 

As a result of the meeting ARC has submitted a comprehensive report entitled “The Voice of the Patient”. This is a detailed summary that includes the patient testimony presented at the meeting and their personal perspectives shared in written submissions from patients.

 

This report will serve a critical function in communicating, to both FDA review staff and Industry, what improvements patients want and hope to see in their daily lives. The FDA believes that the long-term impact of this program will be a better, more informed understanding of how we might find ways to develop new treatments for these diseases.

 

The end of the Patient Voice document incorporates the patient’s input into a benefit-risk assessment and provides important insight that will aid in the FDA’s understanding of what patients truly value in a treatment and inform the agency’s evaluation of the benefits and risk of future treatments for amyloidosis patients.

 

Read the Voice of the Patient Report

Blazing the Trail for Amyloidosis in Brazil

Guilherme José Jucá Calheiros carried the Olympic torch in Maceio (AL) Brazil. Guilherme is diagnosed with ATTR Familial Amyloidosis (FAP), which is a rare autosomal dominant amyloidosis disease caused by the deposition of abnormal transthyretin that results from a gene mutation.  TTR-FAP was initially described in 1952 in Póvoa de Varzim, Portugal and has subsequently been reported in Sweden, Japan and Brazil, among other countries.


Known in Brazil as the “disease of Pezinhos,” ATTR familial amyloid polyneuropathy, also called FAP transthyretin-related hereditary amyloidosis or ATTR FAP, is a life-threatening disease and affects up to 5000 people in Brazil according to the Brazilian Association of Familial Amyloidotic Polyneuropathy (ABPAR).

 

Guilherme, an avid athlete in water sports, had a liver transplant to help combat the disease a decade ago. He comes from a family in which his grandfather, aunt, parents, and sister have also been affected. Through his personal determination and dedicated physical activity, he has managed to overcome significant barriers, both personally and professionally. Guilherme’s commitments have earned him the coveted honor and privilege, awarded to only 110 participants, of carrying the Olympic torch of the Rio de Janeiro Day Games on May 29th, in Maceio, AL, Brazil.