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Grant - Summer 2019 - CMT - Gerald W. Dorn, II, MD

“There is currently no disease-modifying treatment for CMT2A; mitofusin agonists may be the first. This is an orphan disease with a clear unmet need.”
Gerald W. Dorn, II, MD, professor of Medicine and director of the Center for Pharmacogenomics at Washington University School of Medicine in St. Louis and president of Mitochondria in Motion, Inc., was awarded an MDA research grant totaling $267,942 over two years to study mitofusin agonists to treat Charcot-Marie-Tooth disease (CMT).
There are many subtypes of CMT, each caused by different genetic mutations. CMT type 2A (CMT2A) is caused by mutations in the mitofusin 2 gene (MFN2), which regulates mitochondrial fusion and motility. Affected mitochondria are fragmented, dysfunctional, and immobile, leading to the symptoms of CMT, which include muscle weakness, atrophy, and loss of sensation in the lower legs and feet and sometimes the hands, wrists, and forearms.
Dr. Dorn previously discovered a compound that can act like the missing mitofusin in CMT2A. This mitofusin agonist has been shown to improve CMT2A mitochondrial abnormalities in human and mouse tissue culture models. Dr. Dorn recently helped found a biotechnology company, Mitochondria in Motion, and he will use the new MDA funding to modify the company’s lead compound to make it more “drug-like” and then show that this improved drug can halt or reverse the progression of CMT2A in a humanized mouse model. It is hoped that this will move the field closer to first-in-human clinical trials for this new class of drugs.
https://doi.org/10.55762/pc.gr.87353
Grantee: CMT - Gerald W. Dorn, II, MD
Grant type: Research Grant
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