According to a story from Xconomy, the US Food and Drug Administration (FDA) made a controversial decision three years ago when it approved the drug eteplirsen as a treatment for Duchenne muscular dystrophy. The reason for the controversy was because there was only slight evidence that suggested that the drug was truly having a real impact. Part of the approval process involved passionate presentations from patient advocates. These presentations included evidence gathered directly from patients that appeared to show improvement using the drug.
While the drug was ultimately approved, FDA officials stated at the time that the evidence presented by patients wasn’t rigorous enough. That is, data outside of the clinical trial setting can’t really be considered. However, Janet Woodcock, who was the agency’s head drug evaluator, said that if the data could be quantified and validated by an Institutional Review Board, it could be of greater value. In response to this, Duchenne muscular dystrophy advocates started a company called Casimir Trials with the explicit goal of gathering data directly from patients with collaboration from drug companies.
About Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a neuromuscular disease and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.
Disparities Between Trial Data and Patient Experiences
At times, patients often feel that a drug they are taking in a trial is having a positive effect, only to have data from the trial’s design indicate little to no effect. Casimir hopes to develop new, scientifically valid methods to measure the impact of a drug on patients in a manner that reflects their experiences, which could have implications for new treatment for Duchenne muscular dystrophy and other rare diseases down the road.
There is some controversy surrounding the relationship between patient advocacy groups or patient advocate-led companies like Casimir and the drug companies, as the potential for conflicts of interest run rampant (far too many rare disease nonprofits are propped up by drug companies, for example), but the reality is that some patients genuinely do have experiences that differ from the clinical data. Casimir hopes to develop alternative methods for evidence gathering that reflects real-world impacts.