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Here's one of the great stories from The NEXT Report by Global Genes. #researchcollabortations #researchReadiness #patientvoice 
Read the full report here.

Drug development takes place in a highly regulated environment. Some of the most significant barriers to advancing treatments from the lab to the patient can be regulatory. Christine McSherry's son Jett was diagnosed with #duchennemusculardystrophy 

the rare and progressive neuromuscular condition Duchenne muscular dystrophy at age 5.

As
founder and executive director of the Jett Foundation, McSherry attended an FDA meeting
and approached leadership at the agency about the endpoints being used in the clinical trial
for Sarepta's DMD therapy Exondys 51. She was concerned that the small trial underway for
antisense therapy relied on the six-minute walk test to demonstrate efficacy. Among other
problems with the test is the fact that it is not useful for people who have lost the ability to
walk. McSherry told the FDA officials the kids on the drug were doing better but the endpoint
wouldn't reflect that. Officials told her to show them and she filmed all 12 boys in the clinical
study, as well as a few others who were later enrolled in a safety study, and interviewed
each of them. One boy discussed how since he was using the drug he was once again able to
walk his dog. He had been forced to stop doing so because he lacked the strength to remain
standing when his dog pulled on the leash. Another boy was now able to get into his mother's
car without anyone's assistance.

She made a two-hour presentation to the FDA. While officials
were moved by the presentation, the agency said it couldn't incorporate it into the formal
materials for the drug review. Nevertheless, the agency allowed her to make a 10-minute presentation to the advisory committee that reviewed Exondys 51 and at the encouragement of Janet Woodcock, director of the FDA's Center for Drug Evaluation and Research, she co-founded Casimir Trials, a contract research organization that works to analyze and report rare disease patient and caregiver perspectives and real-world evidence collected remotely.