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CompletedNCT05139316Updated Mar 25, 2026

A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)

A Phase 3 interventional study of DTX401 and Placebo in Glycogen Storage Disease Type IA, sponsored by Ultragenyx Pharmaceutical Inc. Completed at 20 sites in 9 countries. Open to participants aged 8 Years and older. Per ClinicalTrials.gov, last updated 2026-03-25.

Sponsored by Ultragenyx Pharmaceutical Inc · Phase 3, Interventional, and Treatment

Phase
Phase 3
Study type
Interventional
Enrollment
49
Allocation
Randomized
Ages
8 Years and older
Sex
All
01

Study summary

The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose control.

Read the detailed description

Study DTX401-CL301 is a phase 3 study to determine the efficacy and confirm the safety of DTX401 in patients 8 years and older with glycogen storage disease type Ia (GSDIa).

Participants will be randomized 1:1 to DTX401 or placebo group, and followed closely for 48 weeks. At week 48 eligible participants will cross over and receive DTX401 if they had previously received placebo or placebo if they had previously received DTX401, and will be followed closely for an additional 96 weeks. After completion of week 144 or early withdrawal, participants will be offered enrollment into a Disease Monitoring Program (DMP) where they will be followed for at least 10 years post DTX401 infusion.

In Japan, there will be a single open label study arm and all participants will be treated with DTX401. At week 48, Japanese participants will be offered enrollment into a Disease Monitoring Program (DMP) where they will be followed for at least 10 years post DTX401 infusion.

02

Conditions studied

  • Glycogen Storage Disease Type IA

Keywords

  • glycogen storage disorder Ia
  • AAV
  • gene therapy
  • von Gierke disease
  • glucose metabolism disorder
  • GSDIa
  • GSD1
03

Who can participate

Ages eligible
8 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Eligibility criteria

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.
  • Willing and able to complete the informed consent process and to comply with study procedures and visit schedule
  • Females of childbearing potential and fertile males must consent to use highly effective contraception from the period following informed consent through the duration of the 144-week study and in cases of early withdrawal at least 48 weeks after the last dose of investigational product (IP). Female subjects must agree not to become pregnant. Male subjects must agree not to father a child or donate sperm

Key Exclusion Criteria:

  • Detectable pre-existing antibodies to the AAV8 capsid
  • History of liver transplant, including hepatocyte cell therapy/ transplant
  • History of liver disease
  • Presence of liver adenoma >5 cm in size
  • Presence of liver adenoma >3 cm and ≤5 cm in size that has a documented annual growth rate of ≥0.5 cm per year
  • Significant hepatic inflammation or cirrhosis as evidenced by imaging or any of the following laboratory abnormalities: alanine aminotransferase (ALT) or aspartate aminotransferase (AST) > upper limit of normal (ULN), total bilirubin >1.5 × ULN, alkaline phosphatase >2.5 × ULN
  • Non-fasting triglycerides ≥1000 mg/dL
  • Pregnant, breastfeeding, or planning to become pregnant (self or partner) at any time during the study.
  • Current or previous participation in another gene transfer study
  • History of illicit drug use within 60 days prior to screening or positive results from an 8-panel urine drug screen during the Screening Period completed at 2 time points at least 4 weeks apart

Note: additional inclusion/exclusion criteria may apply, per protocol

04

Study design

Phase
Phase 3
Primary purpose
Treatment
Allocation
Randomized
Intervention model
Crossover assignment
Masking
Quadruple (Participant, Care provider, Investigator, Outcomes assessor)
Enrollment
49 participants (actual)

Study arms

  • Experimental
    DTX401, Then Placebo

    Participants receive single peripheral intravenous (IV) infusion of DTX401 in solution. At week 48 participants receive single peripheral IV infusion of Placebo.

    Genetic: DTX401 · Other: Placebo · Drug: Oral prednisolone · Drug: Placebo for oral prednisolone

  • Placebo comparator
    Placebo, Then DTX401

    Participants receive single peripheral IV infusion of Placebo. At week 48 eligible participants receive single peripheral IV infusion of DTX401 solution.

    Genetic: DTX401 · Other: Placebo · Drug: Oral prednisolone · Drug: Placebo for oral prednisolone

  • Experimental
    DTX401 (Japan Only)

    Participants receive single peripheral intravenous (IV)infusion of DTX401 in solution.

    Genetic: DTX401 · Drug: Oral prednisolone

Interventions

  • GeneticDTX401

    nonreplicating, recombinant, adeno-associated virus (AAV) serotype 8 (AAV8)

    Also known as: pariglasgene brecaparvovec

  • OtherPlacebo

    Normal Saline infusion

  • DrugOral prednisolone

    Participants who receive DTX401 solution will receive oral prednisolone

  • DrugPlacebo for oral prednisolone

    Participants who receive placebo will receive placebo oral prednisolone to maintain the study blind

05

What researchers measure

Primary outcomes

  1. Percent Change from Baseline to Week 48 in Daily Cornstarch Intake

    Time frame: Baseline, Week 48

Secondary outcomes

  1. Change from Baseline to Week 48 in Number of Total Daily Doses of Cornstarch in DTX401 Group Compared to Placebo Group

    Time frame: Baseline, Week 48

  2. Change from Baseline to Week 48 in Percentage of Glucose Values in Hypoglycemic Range (<70mg/dL [3.9 mmol/L])

    Time frame: Baseline, Week 48

  3. Patient Global Impression of Change (PGIC) Assessment Score at Week 48

    Time frame: Baseline, Week 48

  4. Change from Baseline to Week 48 in Time to Hypoglycemia (<54 mg/dL [3.0 mmol/L]) During a Controlled Fasting Challenge

    Time frame: Baseline, Week 48

  5. Change from Baseline to Week 48 in Percentage of Glucose Values in the Range of 70-120 mg/dL (3.9-6.7 mmol/L)

    Time frame: Baseline, Week 48

  6. Number of Treatment Emergent Adverse Events (TEAEs), TEAEs of Special Interest, Serious TEAEs, Related TEAEs, Discontinuations From Study or Investigational Product Due to Adverse Events (AEs), and Fatal AEs

    Time frame: up to 144 weeks

06

Study locations

20 sites
  • Children's Hospital of Orange County
    Orange, California 92868, United States
  • Children's Hospital Colorado
    Aurora, Colorado 80045, United States
  • University of Connecticut Health Center
    Farmington, Connecticut 06030, United States
  • Mount Sinai
    The Bronx, New York 10467, United States
  • Duke University
    Durham, North Carolina 27710, United States
  • Cleveland Clinic
    Cleveland, Ohio 44195, United States
  • Children's Hospital of Philadelphia
    Philadelphia, Pennsylvania 19104, United States
  • University of Texas
    Houston, Texas 77030, United States
  • Primary Children's Hospital
    Salt Lake City, Utah 84132, United States
  • Hospital de Clinicas de Porto Alegre
    Porto Alegre, Rio Grande do Sul 90035-903, Brazil
  • McGill University
    Montreal, Quebec H3H 1P3, Canada
  • Righospitalet
    Copenhagen, Capital 2100, Denmark
  • University Medical Center Eppendorf
    Hamburg, 20251, Germany
  • Istituto Giannina Gaslini
    Genova, Linguria 16147, Italy
  • University of Naples
    Naples, 80131, Italy
  • Kumamoto University Hospital
    Kumamoto, Japan
  • Osaka City General Hospital
    Osaka, Japan
  • Fujita Health University Hospital
    Toyoake, Japan
  • Groningen University
    Groningen, 9700 RB, Netherlands
  • Hospital Clinico Universitario de Santiago
    Santiago de Compostela, A Coruna 15706, Spain
07

References and documents

08

Registry details

Key details

Study ID
NCT05139316
Lead sponsor
Ultragenyx Pharmaceutical Inc
Responsible party
Sponsor
First posted
Dec 1, 2021
Start date
Nov 8, 2021
Primary completion
Feb 20, 2024
Completion
Feb 20, 2026
Last update
Mar 25, 2026

Study contacts

Medical Director
study director · Ultragenyx Pharmaceutical Inc

Oversight

Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
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