Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia

A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.

Study Overview

• Status: Active, not recruiting
• Conditions: Glycogen Storage Disease Type IA; Von Gierke's Disease (GSD Type Ia)
• Intervention / Treatment: Other: No intervention

Detailed Description

Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.

• Study Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

Study Locations

• Canada
  • Quebec
    • Montréal, Quebec, Canada, H4A3J1
      • Montreal Children Hospital, McGill University Health Centre
• Netherlands
  • Groningen, Netherlands, 9700RB
    • University Medical Center Groningen
• Spain
  • A Coruna
    • Santiago De Compostela, A Coruna, Spain, 15706
      • Complejo Hospitalario Universitario de Santiago
• United States
  • Connecticut
    • Farmington, Connecticut, United States, 06030-3213
      • UConn Health
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Michigan Medicine University of Michigan
  • Texas
    • Houston, Texas, United States, 77030
      • University of Texas Health Science Center at Houston

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Subjects 18 years of age or older with GSDIa previously enrolled in 401GSDIA01.

Description

Inclusion Criteria:

1. Received DTX401 in study 401GSDIA01.
2. Willing and able to provide written informed consent after the nature of the study has been explained, and prior to any research-related procedures being performed.
3. Willing and able to comply with all scheduled study visits, procedures, and requirements.

Exclusion Criteria:

1. Planned or current participation in any other interventional clinical study that may confound the safety or efficacy evaluation of DTX401 during this study.
2. Presence or history of any condition that, in the view of the Investigator, poses a risk to subject safety or places the subject at high risk of poor compliance or not completing the study or that would significantly affect the interpretation of study results.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
All Participants; All participants enrolled in study 401GSDIA02 will have received a single IV dose of DTX401 during their participation in study 401GSDIA01 (NCT03517085).	Other: No intervention; No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of Participants With Adverse Events (AEs), Serious AEs and Discontinuations Due to AEs	Up to 312 weeks following DTX401 administration

Secondary Outcome Measures

Outcome Measure	Time Frame
Change in Time to First Hypoglycemic Event During a Controlled Fasting Challenge from Day 0 (Study 401GSDIA01) to 312 weeks	Up to 312 weeks following DTX401 administration

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc
• Investigators: Study Director: Medical Director, Ultragenyx Pharmaceutical Inc

Study record dates

Study Major Dates

• Study Start (Actual): July 15, 2019
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026

Study Registration Dates

• First Submitted: May 29, 2019
• First Submitted That Met QC Criteria: May 29, 2019
• First Posted (Actual): May 31, 2019

Study Record Updates

• Last Update Posted (Actual): January 30, 2024
• Last Update Submitted That Met QC Criteria: January 26, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: gene therapy; genetic diseases; AAV; glucose metabolism disorder; carbohydrate metabolism, inborn errors; Inborn Metabolic Diseases
• Additional Relevant MeSH Terms: Pathologic Processes; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Disease; Metabolic Diseases; Glycogen Storage Disease; Glycogen Storage Disease Type I
• Other Study ID Numbers: 401GSDIA02; 2018-004473-27 (EudraCT Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Due to the rarity of GSDIa and the small number of subjects in this trial, individual patient data will not be shared in order to safeguard patient privacy, consistent with the data sharing commitment statement listed on Ultragenyx.com.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes