January 18, 2023 / Clinical Trials

PPMD Urges FDA to Conduct a Full Review of Ataluren (Translarna)

Last month, PPMD held a webinar with PTC Therapeutics for a discussion regarding PTC’s history with the community and plans for the future, including activities to bring ataluren (Translarna) to US patients. Ataluren is an oral small molecule treatment that allows for stop-codon read-through to produce dystrophin in patients with nonsense mutations or ‘periods in the middle of their genetic sentence.’ Up to 15% of Duchenne diagnosis are caused by this type of change in the dystrophin gene.

PTC was the first company to conduct a large-scale placebo-controlled study in Duchenne. They have conducted a number of studies over the years, including a broad population through those studies of both very young children and adults. In the U.S., there are approximately 130 individuals with Duchenne currently on ataluren. Some of these individuals have been on ataluren for 10 or more years. 

In 2014, Ataluren received Conditional Approval from the European Medicines Agency (EMA), the European Union’s equivalent to the U.S. Food and Drug Administration (FDA), and is available in Europe. During our recent webinar, PTC expressed concern that the FDA has refused to accept their New Drug Application (NDA) submission and conduct a full review of ataluren following the completion of their latest Phase 3 placebo-controlled trial. The NDA submission is a drug sponsor’s request to the FDA for approval to sell and market a new drug in the U.S. During this process, the agency reviews the submitted information to determine whether the drug is safe and effective; whether the drug’s benefits outweigh its risks; whether the proposed drug label (package insert) is appropriate; and whether the drug manufacturing standards are adequate.

PPMD has sent a request to the FDA urging them to accept PTC’s NDA and conduct a full review of ataluren (see letter below). Regardless of the outcome, we believe the FDA’s review is critical for allowing families to make informed decisions about potential treatment options. It is the only way for U.S. families to have the ability to understand the safety and efficacy of any product and provides families and their physicians the ability to make decisions.

Should you wish to contact the FDA about this, please contact CDER.  

Read PPMD’s Letter to FDA

Dear Dr. Dunn,

Last week, we participated in a webinar with PTC. During that webinar with the community, PTC said that the FDA was unwilling to accept and review their NDA. They also said they were submitting a formal request to meet with you and your colleagues.

As you might imagine, the Duchenne community is struggling. 130 young men are currently taking Ataluren/Translarna, some of whom have been on this investigational drug for greater than 13 years. PTC suggested that if they were unable to submit their NDA, they would discontinue their ongoing extended access protocols.

Sadly, this situation has parents and young men in a very difficult position, a Sophie’s choice. Questions that followed the webinar include: What if the drug is withdrawn? Will these young men experience rapid decline? Will withdrawal result in a loss of hope, the feeling that these young men with nonsense mutations will have no options? And because many of these men are now adults and medically fragile, will withdrawing a drug cause a physiological change that will further impact their fragile medical health?     

Many years back, PTC’s DSMB put a voluntary hold on the study when there were dosing questions. This resulted in a focus group during our annual meeting where parents were describing decline in function and changes in cardiac status. This is the parents’ and patients greatest fear, learning that the drug was efficacious.

The data presented during the webinar included integrated data across all studies as well as the STRIDE post-marketing data. Their position was that the totality of data indicates both safety and efficacy of Ataluren/Translarna. Parents and patients depend on the assurance that an objective, independent assessment of the totality of evidence by FDA will provide a definitive conclusion.

I know you understand these parents are up against a wall. FDA has both the expertise and integrity to provide a full and fair review. I know these families would be grateful for and comforted by an FDA decision.


Pat Furlong
President and CEO
Parent Project Muscular Dystrophy

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