Ignite Creation Date:
2024-10-25 @ 7:53 PM
Last Modification Date:
2024-10-26 @ 3:41 PM
Study NCT ID:
NCT06616545
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-09-23
Brief Title:
French Observatory for Patients with Type 3 Glycogenosis
Sponsor:
None
Organization:
None
Study Overview
Official Title:
French Observatory for Patients with Type 3 Glycogenosis
Status:
RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Glycogen storage disease type III GSD-III or CoriForbes 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 andor 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
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 andor 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:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None