Ultragenyx’s AAV8 vector gene therapy, DTX401, is advancing through clinical trials as potentially the first ever therapy to treat Glycogen Storage Disease Type 1a (GSD-1a).

NEWTON, Mass., Sept. 28, 2023 /PRNewswire/ — GSD-1a, also known as von Gierke’s disease, is a rare inherited disorder that hinders the body’s ability to break down glycogen, a stored form of sugar, leading to a daily risk of hypoglycemia, which can result in seizures and in extreme cases, death. There are currently no FDA approved therapies for GSD-1a.

In the absence of approved therapies, the condition requires patients to consume raw cornstarch every 3-4 hours to ensure a sustained glucose supply, coupled with the constant need for glucose monitoring. This regimen leads to chronic sleep disruption and anxiety for both patients and caregivers. With a lifestyle described by physicians as “not conducive to normal living”, patients must adhere to severely restricted diets and have no choice but to consume the majority of their caloric intake from precisely measured amounts of cornstarch.

Endocrinologist, U.S.: “The issue is it’s hard to be perfect, and people get tired of the treatment, which is every three to four hours around the clock, then people stop being compliant, and then they get into trouble.”

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An AAV8 vector gene therapy, DTX-401, is currently in phase 3 clinical trials and will likely be the first drug treatment for the disease if approved by the FDA. However, DTX-401’s durability is currently unknown, and may not be the one-time solution patients believe gene therapy to be given the inability to redose the treatment. Pre-existing AAV antibodies also render some patients ineligible for this type of gene therapy, and the prevalence of antibodies among the GSD-1a patient population is unknown.

Endocrinologist, U.S.: “I don’t think doctors realize that gene therapy doesn’t treat everything. Doctors don’t realize that it will run out at some point, and then we have to figure out what we’re going to do after that.”

The GSD-1a pipeline beyond DTX401 is limited to two other gene therapies in development. These include Moderna’s intravenous mRNA therapy, mRNA-3745, currently in phase 1/2, and Beam Therapeutics’ BEAM-301, a preclinical DNA base editor. These emerging therapies hold potential for expanding the treatment options available to individuals with GSD-1a.

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