French Observatory for Patients with Type 3 Glycogenosis

NCT06616545 | Recruiting

• 1 other identifier: GSD3 French Registry
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 3

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.

Conditions

Glycogen Storage Disease Type III

Outcome Measures

Primary Outcomes (1)

• Fasting period

  Measuring changes in the duration of the fasting period

  Through study completion, an average of 10 years

Secondary Outcomes (1)

• 6MWT distance

  Through study completion, an average of 10 years

Study Arms (1)

Glycogen Storage Disease Type III

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

GSD type 3 patients from French national reference centres

You may qualify if:

• Patients with molecularly characterised Glycogen Storage Disease Type III

You may not qualify if:

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

Sponsors & Collaborators

• Institut de Myologie, France: lead

Study Sites (3)

Aphp Antoine Beclere

Clamart, 92140, France

RECRUITING

CHU du Kremlin-Bicêtre

Le Kremlin-Bicêtre, 94270, France

RECRUITING

Institue of Myology

Paris, 75013, France

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type III

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 23, 2024
• First Posted: September 27, 2024
• Study Start: September 1, 2013
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: September 27, 2024

Record last verified: 2024-09

Locations

FR (3)