French Observatory for Patients with Type 3 Glycogenosis

September 26, 2024 updated by: Institut de Myologie, France

Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients present with liver involvement only (GSD-IIIb). In childhood, the phenotype is mainly characterised by hepatomegaly, short stature and hypoglycaemia, with minimal skeletal muscle involvement. While liver symptoms improve spontaneously around puberty, skeletal muscle weakness develops progressively in adulthood and becomes a major feature of GSD-IIIa.

Currently, there is no treatment other than dietary management tailored to the individual to limit glycogen storage and avoid hypoglycaemia.

The French GSD-III registry is a multicentre online registry dedicated to patients with type III glycogen storage disease followed in France. It has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic AGL gene mutation and/or reduced glycogen debranching enzyme activity.

The aims of the registry are to provide a tool for recording detailed diagnostic, metabolic, neurological, cardiac and biological data on French patients with GSD-III, so as to enable i) a precise natural history of the disease, ii) identification of the outcome measures most sensitive to disease progression, iii) assessment of the frequency of the various complications of the disease and iv) identification of prognostic factors.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Clamart, France, 92140
        • Recruiting
        • Aphp Antoine Beclere
        • Contact:
      • Le Kremlin-Bicêtre, France, 94270
        • Recruiting
        • CHU du Kremlin-Bicêtre
        • Contact:
          • Antoine GARDIN, MD - PhD
          • Phone Number: +33 1 45 21 31 69
      • Paris, France, 75013
        • Recruiting
        • Institue of Myology
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

GSD type 3 patients from French national reference centres

Description

Inclusion Criteria:

  • Patients with molecularly characterised Glycogen Storage Disease Type III

Exclusion Criteria:

  • Patients diagnosed with GSD type 3 refusing to take part in the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Glycogen Storage Disease Type III

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Fasting period
Time Frame: Through study completion, an average of 10 years
Measuring changes in the duration of the fasting period
Through study completion, an average of 10 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
6MWT distance
Time Frame: Through study completion, an average of 10 years
Measurement of changes in distance covered in the 6-minute walk test.
Through study completion, an average of 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut de Myologie, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2013

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

September 23, 2024

First Submitted That Met QC Criteria

September 26, 2024

First Posted (Actual)

September 27, 2024

Study Record Updates

Last Update Posted (Actual)

September 27, 2024

Last Update Submitted That Met QC Criteria

September 26, 2024

Last Verified

September 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GSD3 French Registry

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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