The decision made by the FDA Advisory Committee does not only ​impact ​the affected Duchenne families,​ but ​the​ entire rare disease community.  It has been remarkable to witness how our community came together to show unity and support as we did on Monday. Rare disease studies are ​inherently ​small in numbers​. ​ ​P​erhaps considerations need to be taken for the rare disease community, because ​even small enhancements in ​”quality of life​​” is important.   Listen to the rare disease patient voice, no one can assess benefit like those impacted​!​ Join me today and share your comments to be presented to the FDA on how this upcoming decision should be reconsidered​. Encourage them to set a new precedent for creating HOPE in our rare disease community. We need a path forward.

-Carrie Ostrea, Parent Advocate, Sr. Manager of Patient Advocacy, Global Genes

 

RARE News 
On Monday, April 25, the Rare Disease Community took a devastating blow when the U.S. Food and Drug Administration (FDA) advisory committee did not recommend the approval of the Duchenne Muscular Dystrophy (DMD) drug, Eteplirsen. This is the third DMD therapy in the past year to receive negative FDA feedback.  DMD is a fatal, muscle wasting disease that affects between 15,000-20,000 boys in the U.S., who typically don’t live past their mid-20s.

While the FDA can still approve the drug and is scheduled to make that decision by May 26, the recommendation of the advisory committee carries significant weight. The actions of the advisory committee not only affect Duchenne patients and families, but the Rare Disease Community as a whole, of which 95 percent of the more than 7,000 diseases are waiting for an approved treatment.

 

The Issue 
The FDA advisory committee felt there was insufficient efficacy data for the drug, in part due to study design issues and small patient numbers in the trial.  This affects all rare disease drug development because the patient numbers are by their very definition, small. The voting questions are critical in this process.  It appears, the committee needed more clarity in the wording of the specific questions posed to them by the FDA.   In review of the questions, there is no explicit direction to truly take into consideration the circumstances of the patients with this rare medical condition.

The Food and Drug Administration Safety and Innovation Act (FDASIA) signed into law in 2012 was an effort to include patients in the FDA regulatory process.  FDASIA recognized the value of patient input to the entire drug development enterprise, including FDA review and decision making.  This is an important first step, but appears to have been insufficient in the approval of rare disease drugs.

 

What Can You Do?
The Rare Disease Community needs to stand together to call attention to the need for the FDA to better understand rare disease and the unique challenges of developing therapies for small patient populations. Please join us in the Path to Hope campaign, launched to collect the Rare Community’s voice, to be sent to the FDA to ignite conversation and help bring about meaningful solutions. Learn how to get involved below!

  • Please take a moment to write about why the rare disease community is different, and why and how the FDA can take positive action to better understand the rare disease community in this form, here.
    • All responses will be collected and sent to Janet Woodcock, MD, Director, Center for Drug Evaluation and Research for the FDA. Ms. Woodcock has already spoken in favor of the Duchenne Community, indicated in this article here. She also has the ability to veto a negative final vote. So, let’s work together to share positive explanations about why the rare disease community is important and why she should continue to listen to the Duchenne patient community when taking into consideration her final vote.
  • Once you’ve submitted your form, take a moment to spread the word! We are collecting notes from the rare community until May 4th! Please copy and paste the language below and share it on your Twitter!

Tweet this: Quality of life is a path to Hope! Join me & @GlobalGenes in telling the @US_FDA why they need to #CareAboutRARE: https://globalgenes.org/pathtohope

 

Learn More
From CBS Evening News – An advisory committee has recommended the FDA not approve a drug that could help kids suffering from a rare muscle-wasting disease that will often kill them before they’re 25. Jim Axelrod reports.

FDA panel rejects drug that could combat rare terminal illness