Rare Disease Week 2020

Rare Disease Week on Capitol Hill brings rare disease community members from across the country together to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. Below is a brief summary of the week’s events and the Cutaneous Lymphoma Foundation’s participation as your representative.

Monday – February 24, 2020
FDA Rare Disease Day 2020

Supporting the Future of Rare Disease Product Development

Laurel Carlson, patient and President of the Cutaneous Lymphoma Foundation’s Board of Directors, and Deb Van Zegeren, Foundation staff member, attended the Food and Drug Administration's (FDA) public meeting on Rare Diseases on behalf of the Foundation. The focus of the meeting was the importance of patient natural histories and registry data in advancing rare disease research and rare disease product development. 

Natural Histories/Registry Data

Natural histories are the gathering of clinical data related to the clinical course, presentation, and progression of a disease, in this case rare disease. The information may be retrospective (e.g. chart review, medical records), cross sectional (i.e. looking across different existing data), or prospective (i.e. collection of pre-determined data related to a study – patient registry).

Registry data is provided by patients and is related to their personal experience of the disease and/or treatment outcomes. 

The value of both natural histories and registry data is what it can tell about the disease. It can define the disease course or progression, its complications, its diversity or heterogeneity, and the burdens of its treatment. It can also help inform the design of clinical studies, outcome assessment tools and biomarkers, and help develop and improve drugs for rare diseases.

Rare Disease Product Development

In the last year, 60% of the new drugs introduced were developed for rare diseases.  The FDA’s excitement about furthering rare disease research and developing treatments was palpable throughout the day. While the number of new drugs is encouraging, there are still many challenges related to manufacturing treatments for rare diseases such as how to create high quality products efficiently, and how to keep them affordable and still commercially viable and sustainable.

Individualized medicine was also discussed and the promise it holds for rare diseases that impact very small groups of patients, even a single patient. The challenge is how clinicians/researchers use these individualized tools to scale what they have learned to impact a broader population.

Another issue recognized by the FDA related to product development is the need to work globally rather than reinventing the wheel within each country. Breaking down regulatory barriers between countries means better treatment for all who are impacted by rare disease.

A recording of the FDA’s public meeting is available at https://bit.ly/38lrKWU

Tuesday – February 25, 2020
Rare Disease Congressional Caucus

Accelerating Rare Disease Innovation Across the Pipeline: From Discovery to Access

The Rare Disease Caucus is a bipartisan, bicameral (ie. open to House and Senate members) caucus that works to raise awareness of rare disease. Tuesday’s meeting reviewed current bills before the House, primarily related to pediatric testing.

However, there was discussion of the Caucus’ request that the FDA create a Rare Disease Center of Excellence, modeled after the existing and successful Oncology Center of Excellence. A Center of Excellence could help bring together the multiple groups within the FDA to help create best practices and more efficiency by coordinating rare disease-specific regulatory science initiatives and outreach. Such a center could help avoid delays in getting new treatments through the approval processes and into the hands of those who need them.

Additionally, the Caucus is looking for Senate support for renewing the 21st Century Cures Act which expires in September 2020. The Act is designed to help accelerate medical product development and bring new innovations and advances to patients faster and more efficiently.

Rare Disease Documentary Screening: Tin Soldiers

Tin Soldiers is a documentary about individuals who suffer from the rare disease fibrodysplasia ossificans progressiva (FOP) - a disease that literally turns tissue into bone – and the search for a cure. The film is heart-wrenching given the devastating effects of the disease, but it also clearly demonstrates how difficult it is to find effective treatment when the pool of affected individuals is significantly small. The researchers, clinicians and advocates are on a mission to locate patients globally in order to have enough clinical trial participants for each trial phase. The film, and the panel discussion that followed, showed the enormous value in a collaborative effort between clinicians, researchers, industry and patient advocates in moving rare disease diagnosis and treatment forward.

Wednesday – February 26, 2020
Legislative Conference

The Legislative Conference was a preparation day for going to Capitol Hill on Thursday. This annual conference is hosted by the Rare Disease Legislative Advocates (RDLA). The daylong event provided an overview of the “asks” considered to be priorities for the rare disease patient community, as well breakout sessions on a variety of related topics.

The RDLA prepared legislative asks included:

  • Support Creation of the Rare Disease Center of Excellence at the U.S. Food and Drug Administration (FDA)
  • Enact the Newborn Screening Save Lives Reauthorization Act, H.R. 2507/S. 2158
  • Support Increased Funding for the FDA Orphan Products Clinical Trial Grants Program and the Natural History Grants Program
  • Join the Rare Disease Congressional Caucus (Request to join or thank for having joined)
  • Support the Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT) Act
  • Co-Sponsor the Medical Nutrition Equity Act, H.R. 2501

In addition to learning more about each of these asks, deep-dive breakouts on the value of creating a Rare Disease Center of Excellence within the FDA and how patient-centered data can help improve access to treatments were also attended.

Throughout the conference access to treatment was raised by advocates as a primary concern for the rare disease community. As exciting as new research and/or treatments is, what is their value to those who need them most if they can’t afford them? While recognized as an issue, there seemed to be a lack of clear solutions.

Thursday – February 27, 2020
Capitol Hill Day

On Thursday, Deb Van Zegeren joined over 800 Rare Disease Advocates on Capitol Hill to meet with members of Congress to make them aware of the impact of living with a rare disease. Deb traveled throughout the day with other delegates to see their Michigan state senators and representatives. As an advocate for the cutaneous lymphoma community, Deb shared that while our community is fortunate to have multiple treatments available, access to those treatments is a significant financial hardship for many and seriously impacts their quality of life. She also championed the proposed Rare Disease Center for Excellence as a way to improve the FDA’s approval process and continued funding for the National Institutes of Health (NIH).

Friday – February 28, 2020
Rare Disease Day at NIH

Laurel and Deb attended the Rare Disease Day at the National Institutes of Health (NIH) on Friday.  The day began with a brief introduction and update of the different branches of the NIH related to rare diseases. 

The first session focused on shortening the diagnosis process for rare diseases.  There are 7000 recognized rare diseases globally – rare is defined as affecting less than 200,000 individuals. Within the United States, 25-30 million individuals are affected by rare disease. As we know from the cutaneous lymphoma community, many spend years searching for answers before receiving a diagnosis.  Diagnosis remains a challenge, but advances in genomics, medical informatics and novel clinical approaches are helping to make progress toward quicker diagnoses. 

The second session looked at precision medicine and individualized therapeutic approaches. The patient story of how researchers and clinicians developed a therapy for one child in order to give her a better chance of survival was inspiring. The lessons learned through this experience may help future researchers and clinicians in similar situations – especially when there are not enough individuals with the disease for a typical clinical trial protocol. Also discussed was reclassifying many common diseases into smaller and more specific groups, each with a different underlying cause and potential treatment. Grouping people by narrowly defined factors means scientists can tailor interventions to the individuals who can benefit most, but it also means that many common diseases would be treated like rare diseases. NIH’s focus on rare disease research has advanced new methods both to discover commonalities among disorders and to diagnose and test treatments in more rare disorders.

The final session introduced a nontraditional approach to improve access to specialized expertise. Project ECHO® (Extension for Community Healthcare Outcomes) is a telementoring program where less experienced providers are mentored by experts. The program offers much promise as a means to improve care for individuals who may not have direct access to a specialist.