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Rare Disease Week: Washington, DC Round-up

Last week, Karly Werner, FAC Council Member, and Jennifer Panagoulias, head of regulatory and policy and co-director of ABOM, attended the annual Rare Disease Week activities in Washington, DC. This included events sponsored by the National Organization for Rare Diseases (NORD) and the EveryLife Foundation for Rare Diseases. Both NORD and EveryLife are not-for-profit rare disease organizations that advocate for their collective member organizations – including FAST and ASF.

NORD held a member dinner to help its rare disease member organizations connect and share experiences about advocating for their communities. Karly and Jennifer met advocates from the Cutaneous Lymphoma Network, SYNGAP1 Foundation, ADNP Foundation, Amyloidosis Foundation, among other groups. They also connected with NORD policy staff, who shared updates on important legislative initiatives they are supporting federally and at the state level. NORD has a long history in advocacy and is an important champion for FAST since they have spearheaded efforts to help advance rare disease drug development for 40 years.

EveryLife held a day-long congressional briefing for its members where a number of Congressional staffers and policy experts highlighted key initiatives that are important for the rare disease community as a whole:

  • Ensuring that the FDA and NIH are fully funded to support rare disease research like the conduct of natural history studies and clinical trials. Federal grants are important for research, especially in the current economy where industry may not want to pay for these types of projects. For example, the first 8 years of the Natural History Study for Angelman syndrome (at Boston Children’s Hospital and other sites) was funded by a grant from NIH that was >$1 million dollars. It is so important that this type of funding continues to be a priority.
  • Passing a new law that requires the FDA to describe what information they used to consider “the patient voice” when they approve new drugs. After a drug gets approved, the FDA posts a public summary on their website that describes what they thought about the safety and efficacy information they reviewed from clinical trials of a drug. It explains what led them to approve the drug. Since patients and caregivers are key stakeholders in the drug development process, FDA has several initiatives to enhance “patient focused drug development”, meaning that the patient voice is incorporated into the process. FAST makes a lot of effort to collect information on the patient and caregiver experience through the Natural History Study, the Global Registry and through the development of measures for clinical trials like the ORCA, which is completed by parents to evaluate their child’s communication ability. We want to be sure the FDA considers this information when they make a decision so we can be sure the family needs were deeply considered, especially if they decide a new medicine should only be limited to certain patients. This new law, which was proposed by 2 Democrats and 2 Republicans, would make the FDA say what they considered so we and other rare disease communities know our voice was part of the process.
  • Asking for Congress to support the development of a rare disease task force at FDA to make sure there is expertise and consistency across the Agency in the review of drugs intended for rare diseases, like Angelman syndrome. Not all the drugs for a single disease get reviewed by the same group at FDA. This means the process might be different or inconsistent from group to group.


Then it was off to Congress!! Karly met with the Offices of Senator Klobuchar and Tina Smith, and Representatives McCollum and Phillips. Jennifer visited the offices of her home state of Massachusetts. She visited the Offices of Senator Ed Markey and Elizabeth Warren, and Representatives Katherine Clark and Seth Moulton. Karly and Jennifer told the MN and MA groups about the important work we do at FAST to help prepare for clinical trials in AS like collecting information on the patient voice, creating assessments for clinical trials, and learning more about AS through the Global Registry and NHS. They had a chance to share their stories about how their families are impacted by AS and how much hope they have for the future based on the hard work our community has done together for many years. Karly told Amy Klobuchar how important it is for our community to have a clear, predictable and consistent review process for drugs for AS at FDA. Jennifer explained how our community has benefited from grants from NIH and FDA for things like the Natural History Study and the ORCA and how we support strong funding of these groups by Congress. It was clear there was strong support from these offices for funding FDA and NIH, and ensuring a consistent and predictable path for accelerated approvals at the FDA. 

This was a great step in raising awareness about AS and something we need to continue across all 50 states!!