Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program

GSDIa Disease Monitoring Program

The main objective of this observational study is to evaluate the long-term safety and effectiveness of DTX401 for at least 10 years after DTX401 administration.

Study Overview

• Status: Recruiting
• Conditions: Glycogen Storage Disease Type Ia
• Intervention / Treatment: Other: No Intervention

Detailed Description

The DTX401-CL401 Disease Monitoring Program (DMP) is a prospective, multicenter, long-term observational study to follow up participants with GSDIa for at least 10 years after the administration of DTX401.

• Study Type: Observational
• Enrollment (Estimated): 140

Contacts and Locations

• Study Contact: Name: Patients Contact: Trial Recruitment; Phone Number: 1-888-756-8657; Email: trialrecruitment@ultragenyx.com
• Study Contact Backup: Name: HCPs Contact: Medical Information; Phone Number: 1-888-756-8657; Email: medinfo@ultragenyx.com

Study Locations

• Brazil
  • Rio Grande do Sul
    • Porto Alegre, Rio Grande do Sul, Brazil, 90035-903
      • Recruiting
      • Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
• Canada
  • Quebec
    • Montreal, Quebec, Canada, H4A3J1
      • Recruiting
      • McGill University Health Center
• Denmark
  • Copenhagen, Denmark, 2700
    • Recruiting
    • Rigshospitalet
• Germany
  • Hamburg, Germany, 20246
    • Recruiting
    • Universitätsklinikum Hamburg Eppendorf
• Italy
  • Genoa, Italy, 16147
    • Recruiting
    • Istituto G Gaslini Ospedale Pediatrico IRCCS
  • Campania
    • Naples, Campania, Italy, 80131
      • Recruiting
      • University of Naples
• Japan
  • Osaka, Japan, 534-0021
    • Recruiting
    • Osaka City General Hospital
  • Toyoake, Japan, 470-1192
    • Recruiting
    • Fujita Health University Hospital
• Netherlands
  • Provincie Groningen
    • Groningen, Provincie Groningen, Netherlands, 9700 RB
      • Recruiting
      • Groningen University
• Spain
  • Santiago, Spain, 15706
    • Recruiting
    • Hospital Clinico Universitario de Santiago
• United States
  • California
    • Orange, California, United States, 92868
      • Recruiting
      • Children's Hospital of Orange County
  • Colorado
    • Denver, Colorado, United States, 80045
      • Recruiting
      • Children's Hospital Colorado
  • Connecticut
    • Hartford, Connecticut, United States, 06106
      • Recruiting
      • University of Connecticut Health Center
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Recruiting
      • University of Michigan
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University Medical Center
  • Ohio
    • Cleveland, Ohio, United States, 44195
      • Not yet recruiting
      • The Cleveland Clinic Foundation
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia
  • Texas
    • Houston, Texas, United States, 77030
      • Recruiting
      • University of Texas Health Science Center at Houston
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • Not yet recruiting
      • Primary Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All participants who received DTX401 in a qualifying clinical study will be expected and asked to participate in the DMP upon completion or early termination (ET) from the parent study, as required by regulatory agencies for all gene therapy studies.

Description

Inclusion Criteria:

• Patient who had:

  • DTX401 (full or partial dose) administered in a parent clinical study (Group 1) or
  • Prescribed DTX401(full or partial dose) administered in a post-marketing setting (Group 2)
• Patient is willing and able to provide informed consent after the nature of the study has been explained, and prior to any research-related assessments or procedures. If a minor or an adult with cognitive limitations, the patient is willing and able (if possible) to provide assent and have a legally authorized representative provide informed consent after the nature of the study has been explained, and prior to any research-related assessments or procedures.

Exclusion Criteria:

• Presence of any condition that would interfere with study participation, interpretation of results or affect patient's safety in the opinion of the Investigator

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Group 1: DTX401 in Prior Clinical Study; Patients administered DTX401(pariglasgene brecaparvovec), full or partial dose, in prior clinical study involving DTX401	Other: No Intervention; No investigational/study product will be administered in this DMP.
Group 2: DTX401 in Post-Marketing Setting; Patients administered prescribed DTX401(pariglasgene brecaparvovec), full or partial dose, in a post-marketing setting	Other: No Intervention; No investigational/study product will be administered in this DMP.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Incidence and Severity of Serious Adverse Events (SAEs) Assessed as Related to DTX401 by the Investigator	10 Years
Incidence, Relationship, Severity and Seriousness of Adverse Events of Special Interest (AESIs) for Adeno-Associated Virus (AAV) Therapies	10 Years
Incidence of Pregnancy in Patients Treated with DTX401 or Patient's Partner	10 Years
Outcomes of Pregnancy in Patients Treated with DTX401 or Patient's Partner	10 Years
Incidence and Severity of SAEs of Infusion-Related Reactions Including Hypersensitivity (Group 2 only)	1 Year
Incidence and Severity of SAEs Assessed by the Investigator as Related to Concomitant Immunomodulatory Therapies (Group 2 only)	1 Year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percent Change Over Time from Baseline in Total Cornstarch Intake		Baseline, Up to 10 Years
Change from Baseline Over Time in Frequency of Cornstarch Intake		Baseline, Up to 10 Years
Change from Baseline Over Time in Number of Nighttime Awakenings for Cornstarch		Baseline, Up to 10 Years
Change from Baseline Over Time in Dependance on Continuous Overnight Tube Feeding for Exogenous Glucose Delivery		Baseline, Up to 10 Years
Change from Baseline Over Time in Daily Dietary Intake of Foods, Beverages, and Medical Foods/Formulas (Non-Cornstarch)		Baseline, Up to 10 Years
Change from Baseline Over Time in Daytime and Nighttime Percentage of Glucose Values During the 2 Weeks Leading Up to the Assessment Visits	The following ranges will be assessed: < 54 mg/dL, < 60 mg/dL, < 70 mg/dL, 70-120 mg/dL, > 120 mg/dL	Baseline, Up to 10 Years
Change from Baseline Over Time in Total Number of Hypoglycemic Events on Continuous Glucose Monitoring (CGM) During the 2 Weeks Leading Up to the Assessment Visits	The following ranges will be assessed: < 54 mg/dL, < 70 mg/dL	Baseline, Up to 10 Years
Change from Baseline Over Time in Total Duration of Hypoglycemic Events on CGM During the 2 Weeks Leading Up to the Assessment Visits	The following ranges will be assessed: < 54 mg/dL, < 70 mg/dL	Baseline, Up to 10 Years
Change from Baseline Over Time in Real-World Overnight Fasting Tolerance		Baseline, Up to 10 Years
Change from Baseline Over Time in Metabolic and GSDIa Related Parameters: Height		10 Years
Change from Baseline Over Time in Metabolic and GSDIa Related Parameters: Weight		10 Years
Change from Baseline Over Time in Metabolic and GSDIa Related Parameters: Body Mass Index (BMI)		10 Years
Number of Participants with Clinically Significant Laboratory Values		10 Years
Frequency of Major Clinical Events (MCEs)		10 Years
Frequency of MCEs from Review of Medical Records		10 Years
Change from Baseline in Patient Experience Clinical Interview		Baseline, Up to 10 Years
Change from Baseline in European Quality of Life 5 Dimensions 5 Levels (EQ-5D-5L) Questionnaire Score		Baseline, Up to 1 Year
Change from Baseline in European Quality of Life 5 Dimensions Youth (EQ-5D-Y) Questionnaire Score		Baseline, Up to 1 Year
Change from Baseline Over Time in Annual Number of GSDIa Related Hospitalizations, Emergency Room Visits, Outpatient Visits, and Hospital Days		Baseline, Up to 10 Years
Change from Baseline Over Time in Missed Work/School Days in the Past 3 Months		Baseline, Up to 10 Years
Change from Baseline in Work/School Productivity Rating		Baseline, Up to 10 Years
Change from Baseline in Employment		Baseline, Up to 10 Years

Collaborators and Investigators

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

Publications and helpful links

Helpful Links

• Our Clinical Trial Transparency Commitment-Ultragenyx
• Ultragenyx Patient Advocacy Website

Study record dates

Study Major Dates

• Study Start (Actual): November 4, 2024
• Primary Completion (Estimated): December 1, 2036
• Study Completion (Estimated): December 1, 2036

Study Registration Dates

• First Submitted: September 20, 2024
• First Submitted That Met QC Criteria: October 9, 2024
• First Posted (Actual): October 10, 2024

Study Record Updates

• Last Update Posted (Actual): August 26, 2026
• Last Update Submitted That Met QC Criteria: August 25, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: AAV; Gene therapy; Von Gierke disease; Glucose metabolism disorder; GSDIa; GSD1; Glycogen storage disorder Ia
• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors; Glycogen Storage Disease; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Glucose Metabolism Disorders; Glycogen Storage Disease Type I; Hepatorenal form of glycogen storage disease
• Other Study ID Numbers: DTX401-CL401; 2023 (U.S. NIH Grant/Contract: GRAMMY Museum Foundation); 2023-510219-20-00 (Ctis)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No