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French Observatory for Patients with Type 3 Glycogenosis

NCT ID: NCT06616545

Last Updated: 2024-09-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-09-01

Study Completion Date

2026-12-31

Brief Summary

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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

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Conditions

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Glycogen Storage Disease Type III

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Glycogen Storage Disease Type III

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Institut de Myologie, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Aphp Antoine Beclere

Clamart, , France

Site Status RECRUITING

CHU du Kremlin-Bicêtre

Le Kremlin-Bicêtre, , France

Site Status RECRUITING

Institue of Myology

Paris, , France

Site Status RECRUITING

Countries

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France

Facility Contacts

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Philippe LABRUNE, Pr

Role: primary

Antoine GARDIN, MD - PhD

Role: primary

Marion Masingue, MD

Role: primary

Other Identifiers

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GSD3 French Registry

Identifier Type: -

Identifier Source: org_study_id