Last year, the FDA approved a record number of new drugs to treat rare diseases, according to the National Organization for Rare Disorders (NORD). In all, 21 “orphan” drugs were approved, or 47% of the drugs in the orphan category.
Among the people who will benefit from these approvals are those who suffer from cystic fibrosis, lysosomal acid lipase deficiency, which can lead to liver disease, hypophosphatasia, a sometimes fatal bone disease, and hereditary orotic aciduria, a condition that can result in blood abnormalities. Less than 20 people worldwide have been identified as having hereditary orotic aciduria–that’s how extremely rare it is.
But what about the drugs that DON’T receive approval? Ask Tonya Carlone. Her son, 10 year old Gavin, has Duchenne muscular dystrophy, a fatal muscle weakening disease caused by the absence of dystrophin (the glue that holds muscle cells together).
To put the numbers in perspective, Duchenne muscular dystrophy affects about 1 in every 3,500-5,000 male children.
Carlone watched her cousin slowly die from Duchenne in the early 1980s, so her focus on Gavin’s health and well-being is well informed. She knows what his future might hold in store. Because of his participation in a clinical trial studying the efficacy of an experimental drug called drisaperson, Gavin has been able to ride a bike, and play soccer with his peers.
In other words, Gavin has been thriving!
Dr. Craig McDonald, a Duchenne expert for more than three decades, made the observation that in his experience, he’s never seen a 10-year-old Duchenne patient with as much muscle function as Gavin.
When the FDA denied approval of drisaperson, Carlone began a petition on Change.org calling for the FDA to issue approval because without the drug, Gavin will be condemned to a slow deterioration and eventual death from Duchenne. Over 200,000 people signed the petition. She was also featured in an article in People magazine that described her hopes and fears for Gavin.
Sadly, the Maple Valley, Washington, mom reported on January 14, 2016, that Biomarin Pharmaceutical, Inc., the maker of drisaperson, had received a “complete response letter” from the FDA saying it would not approve drisaperson because certain criteria had not been met.
In other words, to the FDA, for the time being, it’s Game Over.
It begs the question that if they can approve a drug Xuridan for a patient pool of LESS THAN 20 PEOPLE WORLDWIDE, why are they withholding lifesaving treatment for one little boy, and others who have benefitted from drisaperson?
In a press release, Biomarin said that they would work with the FDA to address the issues in the complete response letter, but also said their application for marketing approval is still pending in the European Union.
