Ultragenyx files gene therapy for US approval in glycogen storage disease

US-based biotech Ultragenyx Pharmaceutical Inc., (NASDAQ: RARE) announced that the US FDA has accepted a Biologics License Application (BLA) for DTX401 (pariglasgene brecaparvovec), an AAV8-mediated gene therapy designed to deliver a functional copy of the G6PC gene for the treatment of glycogen storage disease type Ia (GSDIa). The agency granted the filing Priority Review status and assigned a Prescription Drug User Fee Act (PDUFA) action date of August 23, 2026.

Ultragenyx developed DTX401 internally following its 2017 acquisition of Dimension Therapeutics, the program’s originator, and plans to manufacture the product at its own gene therapy facility in Bedford, Massachusetts.

The FDA priority review designation for DTX401 reflects the current lack of any approved pharmacologic options for GSDIa. The BLA is supported by data from 52 treated patients with up to six years of follow-up, including results from the randomized, double-blind, placebo-controlled Phase III GlucoGene study. DTX401 has also received Rare Pediatric Disease designation, orphan drug designation, Fast Track designation, and regenerative medicine advanced therapy (RMAT) designation from the US FDA, as well as orphan drug and PRIority MEdicines (PRIME) designations from the European Medicines Agency.

DTX401 gene therapy mechanism and clinical program

DTX401 (pariglasgene brecaparvovec) is an investigational AAV8 gene therapy that delivers a functional copy of the glucose-6-phosphatase (G6PC) gene to hepatocytes via a single intravenous infusion. The G6PC gene encodes the enzyme glucose-6-phosphatase-alpha (G6Pase-α), which is essential for the final step of glycogenolysis and gluconeogenesis in the liver, enabling the release of free glucose into the bloodstream. In patients with GSDIa, pathogenic variants in G6PC result in absent or deficient G6Pase-α activity, leading to severe fasting hypoglycemia, excessive hepatic glycogen accumulation, metabolic derangements including lactic acidosis and hyperlipidemia, and long-term complications such as hepatic adenomas and renal disease. The current standard of care consists of frequent oral uncooked cornstarch or continuous glucose feeds to prevent hypoglycemic episodes, a regimen that imposes a lifelong burden on patients and families without addressing the underlying enzymatic deficiency.

DTX401 is designed to restore G6Pase-α activity in transduced liver cells under control of the native G6PC promoter, allowing treated hepatocytes to respond to normal hormonal signals including insulin and cortisol. Preclinical studies demonstrated improved G6Pase activity and reduced hepatic glycogen levels following administration. The clinical development program for GSDIa gene therapy with DTX401 includes three registered studies: a Phase I/II open-label, dose-escalation safety and dose-finding study in adults with GSDIa; a Phase III pivotal study (GlucoGene) evaluating percent change in daily cornstarch intake at Week 48 as the primary endpoint; and a long-term monitoring program tracking durability and safety in previously treated patients.

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Data from the Phase III GlucoGene study, as reported by Ultragenyx, showed that patients treated with DTX401 experienced reductions in both the quantity and frequency of daily cornstarch intake while maintaining low levels of hypoglycemia, improved euglycemia, and improved fasting tolerance. Patient-reported quality of life, measured by the Patient Global Impression of Change (PGIC) scale, also improved. GSDIa is estimated to affect approximately 6,000 people in commercially accessible geographies.

Ultragenyx acquired DTX401 through its October 2017 acquisition of Dimension Therapeutics for approximately USD 151 million in cash. Dimension Therapeutics had originated the AAV8-G6PC program and advanced it into early clinical development. The acquisition gave Ultragenyx control of the DTX401 asset as well as additional gene therapy candidates and manufacturing capabilities.

The AAV8 vector used in DTX401 is based on technology originally developed under the NAV platform by REGENXBIO Inc. In March 2020, REGENXBIO and Ultragenyx announced a new license agreement granting Ultragenyx exclusive worldwide rights to NAV AAV8 and AAV9 vectors for development and commercialization of gene therapies for a rare metabolic disorder, expanding their existing relationship. This platform license is directly relevant to the DTX401 program, as it secures the underlying vector technology rights necessary for commercialization.

Ultragenyx’s broader pipeline centers on rare and ultra-rare genetic diseases, with approved products including Crysvita (burosumab) for X-linked hypophosphatemia and Mepsevii (vestronidase alfa) for mucopolysaccharidosis VII. The company has invested in internal gene therapy manufacturing capacity, with the Bedford, Massachusetts facility intended to support commercial production of DTX401 if approved.