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DTX401

Phase 3

Glycogen Storage Disease Type IA | Gene therapy | Rare Disease |Ultragenyx Pharmaceutical Inc.|Last Updated: Mar 25, 2026

Success Probability

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Trial Design

RandomizedDouble-BlindPLACEBO_CONTROLLEDDMC
Total Trials1
Total Enrollment49

FDA Designations

PRIORITY_REVIEW

Clinical trial landscape

DTX401 · 2 trials · 2 indications

Phase 3 1Phase 1 1
NCT05139316A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)Glycogen Storage Disease Type IA
COMPLETED49 Analytics
PHASE3COMPLETED
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
Glycogen Storage Disease Type IAUnlock trial analytics

Study Endpoints

Primary Endpoints

Percent Change from Baseline to Week 48 in Daily Cornstarch Intake
Baseline, Week 48
Number of Participants With Adverse Events (AEs) Treatment-Emergent AEs (TEAEs) Serious TEAEs, Discontinuations Due to TEAEs, and Dose-Limiting Toxicities (DLTs)
AEs Prior to Dosing: From signing the informed consent form (ICF) to first dose of study drug. TEAEs: From first dose of study drug through the End of Study (EOS)/Early Withdrawal visit (up to Week 52) plus 30 days.

An AE is defined as any untoward medical occurrence, regardless of its causal relationship to study product. An SAE is defined as any event that: results in death; is immediately life threatening; requires inpatient hospitalization or prolongation of existing hospitalization; results in persistent or significant disability/incapacity; results in a congenital anomaly/birth defect; or an important medical event, in the opinion of the investigator. The relationship to study drug was categorized as unrelated, possible, probable or definite. A DLT is defined as any AE/SAE ≥ Grade 3 that is considered by the Investigator and/or Sponsor to be related to DTX401, based on the Nation Cancer Institute Common Terminology Criteria for Adverse Events (NCI CTCAE) Version 5.0 or later version. Per protocol, SAEs that occurred \> 30 days after EOS or Early withdrawal visit, did not need to be reported unless Investigator considered them related to study product.

Secondary Endpoints

Change from Baseline to Week 48 in Number of Total Daily Doses of Cornstarch in DTX401 Group Compared to Placebo Group
Baseline, Week 48
Change from Baseline to Week 48 in Percentage of Glucose Values in Hypoglycemic Range (<70mg/dL [3.9 mmol/L])
Baseline, Week 48
Patient Global Impression of Change (PGIC) Assessment Score at Week 48
Baseline, Week 48
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Study Design & Arms

AllocationRANDOMIZED
MaskingQUADRUPLE
ModelCROSSOVER
PurposeTREATMENT

Treatment Arms

ArmTypeDescription
DTX401, Then PlaceboEXPERIMENTALParticipants receive single peripheral intravenous (IV) infusion of DTX401 in solution. At week 48 participants receive single peripheral IV infusion of Placebo.
Placebo, Then DTX401PLACEBO_COMPARATORParticipants receive single peripheral IV infusion of Placebo. At week 48 eligible participants receive single peripheral IV infusion of DTX401 solution.
DTX401 (Japan Only)EXPERIMENTALParticipants receive single peripheral intravenous (IV)infusion of DTX401 in solution.
DTX401 Cohort 1EXPERIMENTALDose 1 (2.0 × 10\^12 GC/kg) with a reactive steroid regimen (6 weeks, at a starting dose of 40 mg/day, after alanine aminotransferase \[ALT\] elevation)
DTX401 Cohort 2EXPERIMENTALDose 2 (6.0 × 10\^12 GC/kg) with a reactive steroid regimen (6 weeks, at a starting dose of 40 mg/day, after ALT elevation)
DTX401 Cohort 3EXPERIMENTALDose 2 (6.0 × 10\^12 GC/kg) with an optimized reactive steroid regimen (7 weeks, at a starting dose of 60 mg/day, after ALT elevation)
DTX401 Cohort 4EXPERIMENTALDose 2 (6.0 × 10\^12 GC/kg) with a prophylactic steroid regimen (8 weeks, at a starting dose of 60 mg/day, starting on Day 1)

Interventions

NameTypeDescription
DTX401GENETICnonreplicating, recombinant, adeno-associated virus (AAV) serotype 8 (AAV8)
PlaceboOTHERNormal Saline infusion
Oral prednisoloneDRUGParticipants who receive DTX401 solution will receive oral prednisolone
Placebo for oral prednisoloneDRUGParticipants who receive placebo will receive placebo oral prednisolone to maintain the study blind
steroid regimenDRUGprednisone or prednisolone to manage alanine aminotransferase (ALT) elevation
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Eligibility Criteria

Age Range8 Years to N/A
SexALL
Healthy VolunteersNo
Study Sites20

Key Inclusion Criteria: * Documented GSDIa with confirmation by molecular testing or enzymatic activity on liver biopsy * Currently receiving a therapeutic regimen of cornstarch (or equivalent), following international guidance/recommendations with stable nutrition, glycemic, and clinical status. *...

Countries:United StatesBrazilCanadaDenmarkGermanyItalyJapanNetherlandsSpain
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Frequently asked questions about DTX401

What is DTX401 used for in Glycogen Storage Disease Type IA?

DTX401 is an investigational gene therapy being developed for the treatment of Glycogen Storage Disease Type IA (GSDIa), a rare inherited metabolic disorder. It is designed to deliver a functional copy of the glucose-6-phosphatase gene to address the underlying enzyme deficiency. DTX401 is currently in clinical development and has not been approved by regulatory authorities.

What does DTX401 target?

DTX401 is a gene therapy that targets the underlying genetic cause of Glycogen Storage Disease Type IA by delivering a functional copy of the glucose-6-phosphatase gene. This enzyme is deficient in patients with GSDIa, leading to impaired glucose metabolism. The therapy uses an adeno-associated virus serotype 8 (AAV8) vector to deliver the gene.

Who makes DTX401?

DTX401 is being developed by Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on rare diseases. Ultragenyx is publicly traded on the NASDAQ under the ticker symbol RARE. The company is conducting clinical trials to evaluate the safety and efficacy of DTX401 in patients with Glycogen Storage Disease Type IA.

What phase is DTX401 in?

DTX401 has completed a Phase 1 trial and a Phase 3 trial, both of which are listed as completed in clinical trial registries. The Phase 1 study evaluated safety and dose-finding in adults, while the Phase 3 study assessed gene transfer in a broader patient population. DTX401 remains investigational and is not yet approved.

What clinical trials is DTX401 in?

DTX401 has been studied in two clinical trials. The first, NCT03517085, was a Phase 1 safety and dose-finding study in adults with GSDIa, completed with 12 participants. The second, NCT05139316, was a Phase 3 study of AAV8-mediated gene transfer in patients with GSDIa, completed with 49 participants across multiple countries.

Is DTX401 the same as AAV8G6PC?

DTX401 is also known as AAV8G6PC, as referenced in the title of its Phase 1 clinical trial. The name reflects the therapy's composition: an adeno-associated virus serotype 8 (AAV8) vector carrying the glucose-6-phosphatase (G6PC) gene. Both names refer to the same investigational gene therapy for Glycogen Storage Disease Type IA.