French Observatory for Patients with Type 3 Glycogenosis

Recruiting

• Conditions: Glycogen Storage Disease Type III

• Registration Number: NCT06616545
• Lead Sponsor: Institut de Myologie, France

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-09-01
• Status Verified: 2024-09
• Study First Submitted: 2024-09-23
• Study First Submitted QC: 2024-09-26
• Last Update Submitted: 2024-09-26
• Study First Posted: 2024-09-27
• Last Update Posted: 2024-09-27
• Primary Completion: 2026-12
• Study Completion: 2026-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Fasting period	Through study completion, an average of 10 years	Measuring changes in the duration of the fasting period

Secondary Outcome Measures

Name	Time	Method
6MWT distance	Through study completion, an average of 10 years	Measurement of changes in distance covered in the 6-minute walk test.

Trial Locations

Locations (3)

Aphp Antoine Beclere; 🇫🇷 Clamart, France

CHU du Kremlin-Bicêtre; 🇫🇷 Le Kremlin-Bicêtre, France

Institue of Myology; 🇫🇷 Paris, France