Biopharmaceutical company PTC Therapeutics, Inc. is not only developing a protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD), but will also expand the drug’s current developmental trial to include siblings of the patients already enrolled in their open label PTC clinical trials. Translarna will be provided to the siblings before being made available on the market, if recommended by the treating physician and accepted by the parents or guardians.
The company has decided to enable siblings who also suffer from nmDMD of the patients that are already receiving Translarna for being in the trial to be treated with the investigational therapy, as announced in a press release. The children need to fulfill the applicable regulatory requirements and be authorized by both parents and physicians.
“For families with more than one child suffering from nonsense mutation Duchenne muscular dystrophy, having only one child enrolled in our clinical trials with access to Translarna, can cause great distress for parents,” explained the CEO of the company, Stuart W. Peltz, PhD. “Knowing this, we worked to find a solution to ensure those siblings who were not eligible to participate in the trials can still have similar access. We are eager to roll out this program and are committed to providing access to Translarna for all who may benefit.”
In addition, the professor of Neuromuscular Genetics at Newcastle University, Kate Bushby, explained the importance of the decision, since despite being a rare disease, Duchenne is also genetic, meaning that there is a higher probability for a sibling to be born suffering from the same mutation. “Translarna is the first treatment option available to treat the underlying cause of nonsense mutation DMD,” said Bushby. “It is exciting to see PTC’s commitment to the patients contributing towards our understanding of the natural history of Duchenne and developing Translarna as a treatment for nmDMD.”
The novel therapy is designed to stimulate the production of functional protein and PTC Therapeutics has already been granted approval of Translarna in the European Economic Area to treat nmDMD patients older than five years in ambulatory. The company has recently submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for the therapy.
In the US, the process of drug development is being supported by the Cystic Fibrosis Foundation Therapeutics, Inc., the Muscular Dystrophy Association, the FDA’s Office of Orphan Products Development, the National Center for Research Resources, the National Heart, Lung, and Blood Institute, and the Parent Project Muscular Dystrophy (PPMD).
The PPMD has also already expressed its opinion regarding the decision, as the founding president of the organization, Pat Furlong, stated that “families of children with Duchenne have wanted companies to be responsive in the case of siblings.” “With this program, PTC, once again, demonstrates itself as a champion for the Duchenne community,” added Furlong.