CRD’s Gene Editing Therapy Planned for DMD Patient After FDA Approval

Goal of Cure Rare Disease's therapy is to stabilize or reverse symptom progression

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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DMD gene editing | Muscular Dystrophy News | illustration of gene splicing

The U.S. Food and Drug Administration (FDA) has given the go-ahead for the first-in-human dosing of Cure Rare Disease’s (CRD) investigational genome-editing therapeutic for Duchenne muscular dystrophy (DMD).

Dosing of a single patient with the treatment, dubbed CRD-TMH-001, will happen soon at the University of Massachusetts Chan Medical School.

“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,” Richard Horgan, founder and CEO of the nonprofit biotech company, said in a press release.

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“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,” Horgan added.

DMD is caused by mutations in the DMD gene, which encodes the dystrophin protein. In most cases, these mutations cause the deletion of one or more of DMD’s exons — sections of genetic information needed to produce a protein. As a result, a properly-working dystrophin can’t be produced.

What is CRISPR gene editing?

The CRISPR genome-editing approach is based on the natural viral defense systems of bacteria. Scientists have found that this system can be leveraged to remove, add, or change sections of a DNA sequence in cells of patient. It is thus of interest as a genome-editing tool to treat diseases with a known genetic cause.

CRD-TMH-001 uses CRISPR to treat mutations affecting the muscle promoter and first exon of DMD. The muscle promoter is a regulatory element that drives dystrophin production in the muscles.

The therapy will increase levels of an alternative form of dystrophin that helps bypass the effects of the mutations, according to CRD. The ultimate goal is to stabilize or reverse the progression of DMD symptoms.

The FDA’s approval for testing in a patient is the culmination of a three-year collaboration between researchers, scientists, and clinicians working to develop better therapies for people with neuromuscular diseases, CRD stated.

After receiving CRD-TMH-001 as a single, into-the-vein infusion, the patient will be monitored in the hospital for several days. After that, they will be followed for 15 years to track their progress, as per FDA guidelines.

To protect the person’s confidentiality, CRD will not be able to comment on the trial once it begins.

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As gene-editing therapies are being developed, new challenges will emerge in enabling patients access to them.

“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,” Horgan said.

Ultimately, findings from this clinical trial will benefit patients with other rare diseases, said Terence Flotte, MD, dean, provost, and executive deputy chancellor at Chan Medical School.

“We look forward to continuing to collaborate with CRD in the future to help patients,” he added. “We wish both the patient and family the best for the upcoming clinical trial.”