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New Bill Would Add More Rare Disease Experts and Patients to FDA Drug Review Process

What happened: Two women are working to change how the FDA reviews drugs for rare diseases. Lindsey Sutton — a Californian who lives familial chylomicronemia syndrome, or FCS — and Melissa Goetz, whose daughter was diagnosed with FCS, helped write the HEART Act after learning the Food and Drug Administration (FDA) does not require rare disease specialists or patients to sit in or serve on clinical trial committees to develop new treatments.

“It began with our frustrations of FCS, but as we were talking with other rare disease groups and sharing our frustrations and concerns with them, we realized that this was not only an FCS-specific issue,” Goetz told CNN. “A lot of other rare disease groups were struggling to get treatments for their community as well.”

If approved, the HEART Act — or Helping Experts Accelerate Rare Treatments Act of 2020 — will require the FDA to include experts in rare diseases on advisory committee panels for rare disease drugs. The bill will also ensure the FDA consults with patients when weighing treatments risks and strategies.

Some of these drugs are going to require high level monitoring physicians, and I think there can be an idea that that level of monitoring can be burdensome for the parents. But this is something we’ve been talking about with the FDA — most patients welcome that level of monitoring because it means they’re going to potentially be healthier and have better care. — Melissa Goetz

The Frontlines: Millions of Americans live with rare diseases, or diseases that affect less than 200,000 people in the United States at any given time. According to the National Human Genome Research Institute, rare diseases affect 25 million to 30 million Americans.

  • There are approximately 7,000 rare diseases.
  • Some rare diseases are caused by genetic mutations; however, the cause of many others remains unknown.

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A Mighty Voice: The Mighty’s rare disease editor, Ashanthi De Silva, interviewed several individuals in 2019 — for World Rare Disease Day — and she found care for those with rare diseases remained problematic. “The struggle to receive access to treatment and care, as well as a knowledgeable medical team, is very real.” You can submit your first person story, too.

From Our Community:

Anyone else attending NORD’s Living Rare, Living Stronger?

Other things to know: For many, living with a rare disease is hard, and there are many things patients want others to know. Read on for more information about the realities of being diagnosed with a rare disease:

Support the HEART Act: In the coming weeks, the HEART Act will move to the congressional floor. You can support the legislation, and Sutton and Goetz’s efforts, by contacting your local officials. You can also send The FCS Foundation a quotation of support that they can then use in press releases and other efforts to promote the HEART Act.

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