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Be Curious
"Kindness is more important than wisdom, and the recognition of this is the beginning of wisdom." ~ Theodore Isaac Rubin
What is Duchenne?
100% fatality rate
Caused by a change in the dystrophin gene
Characterized by a rapid deterioration of the muscles
There is no known cure
Dystrophin acts as a "shock absorber" that allows muscles to contract and relax without being damaged
Typically diagnosed between the ages of 3 and 7
Most boys with Duchenne are in a wheelchair by age 12
Occurs in 1 out of every 5,000 boys
Dystrophin is critical for maintaining muscle cell structure and function
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Research
Imagine a world where genetic diseases could be reversed. We do every day and have funded over one million dollars of groundbreaking research! Our main focus going forward are on two promising therapies – CRISPR and Gene Therapy.
After decades of slow progress in the fight against Duchenne, the FDA approved the first Duchenne drug ever on Sep 19, 2016. That was a big day in the fight against Duchenne. The drug, called eteplirsen, has already proven to be a game changer for some patients, however, since Duchenne presents itself with slight variations, this drug only applies to about 13% of the Duchenne population.
OVER $1M RAISED
SINCE 2015
Another game changing treatment called “gene therapy” or “gene editing” is advancing rapidly as a viable
treatment. With gene editing, the goal is to introduce a portion of the corrected code for dystrophin, providing the cell with the recipe to produce some of the required dystrophin on its own, and thereby reducing muscle damage and promoting necessary muscle repair.
Serapta Therapeutics, Pfizer and Solid Biosciences began micro dystrophin clinical trials in 2018 and early reports from all three are encouraging. Patients experience improvements in time to rise from a sitting position, time to climb 4 stairs, and time to walk 100 meters. These improvements are particularly impressive given the fact that in the normal course of Duchenne, the patient experiences a steady decline in these baseline functional tests. Additionally, reports indicate that patients are experiencing a robust expression of the micro-dystrophin gene.
Conner was the very first patient dosed with Pfizer's micro-dystrophin gene therapy. All of his functional tests improved for a period of about 2 years, and then began to regress. We observed an initial impressive improvement in his stair climbing ability, with a decline with respect to the speed of his assent a couple of weeks later, and then a leveling off in speed. He has since experienced a slow decline in his stair walking ability, and is not able to navigate more than a few stairs. The stair climbing speed and functional abilities decline post infusion were expected by many researchers as newly formed muscle from the natural growth process does not contain the micro-dystrophin gene therapy that was given to Conner initially. We look forward to a time when re-dosing of gene therapy may be possible.