Cure Rare Disease Receives FDA Approval to Administer First-in-Human CRISPR Therapeutic

The first-of-its-kind, CRISPR-based therapeutic aims to stop the progression of Duchenne muscular dystrophy in a single-patient dosing

Cure Rare Disease (CRD) - a Boston-based 501c3 nonprofit biotech - announces the approval from the U.S. Food and Drug Administration (FDA) to administer its very first therapeutic. The drug, named CRD-TMH-001, treats muscle promoter and exon 1 mutations on the dystrophin gene. With the IND approval process complete, the FDA has given the go-ahead, and dosing of the drug will occur imminently at UMass Chan Medical School.

The approval marks the culmination of a collaborative partnership, spanning a three-year period, with leading researchers, scientists and clinicians focused on developing break-through therapies for rare neuromuscular diseases, including the Lek Lab at Yale University, Charles River Laboratories and many other collaborators. The therapeutic will upregulate an alternate form (isoform) of the dystrophin protein using CRISPR technology with the goal of stabilizing, or potentially reversing, symptom progression of Duchenne muscular dystrophy.

“The success of this collaborative project and the development framework that CRD has built demonstrates there is a more efficient way to develop therapeutics for rare disease patients who were previously told that there was no hope for them,” explains Richard Horgan, founder and CEO of Cure Rare Disease. “This is just the beginning of CRD’s efforts to develop more therapeutics to treat rare and ultra-rare diseases, and we look forward to leveraging this approach to continue breaking down barriers in the drug development process for patients who need effective treatments now. As we celebrate this accomplishment, it is imperative that the US Centers for Medicare & Medicaid Services understand the financial hurdles that the rare disease community must overcome and consider the implementation of a reimbursement model to make this growing pathway accessible to more patients.”

The therapeutic has been developed for one-time administration. The patient will receive the drug intravenously and will be monitored in the hospital for several days to ensure that there are no uncontrolled adverse reactions. Following release from the hospital, the patient will be followed for a period of 15 years, as per FDA guidelines, to track the patient’s progress. This is currently a single patient clinical. In order to protect patient confidentiality, CRD will be unable to comment on the trial once it begins.

"It is inspiring to see Cure Rare Disease achieve FDA approval for the first-in-human IND using CRISPR-transactivator technology to treat a rare mutation causing Duchenne muscular dystrophy. Learnings from this significant accomplishment will undoubtedly benefit other rare disease patients and we look forward to continuing to collaborate with CRD in the future to help patients. We wish both the patient and family the best for the upcoming clinical trial, " says Terence Flotte, MD, Dean, Provost & Executive Deputy Chancellor at UMass Chan.

As a 501c3 nonprofit biotechnology organization, the therapeutics developed by Cure Rare Disease and its collaborators are largely funded with support from its grassroots community of rare disease patients, families, and corporate partners. Together, this accomplishment exemplifies the power of community to effect positive change in the rare disease space.

Duchenne muscular dystrophy is a rare, genetic muscle-wasting disease caused by a mutation in the gene that codes for production of the protein dystrophin. It impacts all muscle types, leading to loss of mobility and eventual respiratory and cardiac failure. The disease affects 1 in 3,500 male births and is extremely rare in females.

About CRD

Cure Rare Disease, a 501(c)(3) nonprofit biotechnology company based in Boston, is transforming possibilities for people with rare diseases by developing advanced therapeutics in time to save lives. Through a collaborative community of forward-thinking families, patients, scientists and supporters, Cure Rare Disease has enabled an ecosystem of innovation and discovery to overcome the obstacles inherent in existing models of medicine and to expedite life-saving genetic technologies from research to the clinic. Learn more at www.cureraredisease.org.

Key Takeaways

• The first-in-human therapeutic will upregulate an alternate isoform of the dystrophin protein using CRISPR technology with the goal of stabilizing, or potentially reversing, symptom progression of Duchenne muscular dystrophy.
• The therapeutic will upregulate an alternate form (isoform) of the dystrophin protein using CRISPR technology with the goal of stabilizing, or potentially reversing, symptom progression of Duchenne muscular dystrophy.
• Duchenne muscular dystrophy is a rare, genetic muscle-wasting disease caused by a mutation in the gene that codes for production of the protein dystrophin. It impacts all muscle types, leading to loss of mobility and eventual respiratory and cardiac failure.

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