Prospective Follow-up of Patients With Glycogen Storage Disease Type III

Study Overview
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Brief Summary
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The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.

Official Title
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Prospective Follow-up of Patients With Glycogen Storage Disease Type III

Conditions
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Neuromuscular Disorders

Intervention / Treatment
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* Procedure: Different motor function tests
* Procedure: Manual dexterity assessment


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patients with a debranching enzyme deficiency confirmed by enzymatic analysis (debranching enzyme deficiency). Written consent Age: at least 10 years Affiliated with a social security system Exclusion Criteria: Pregnant and lactating women

Ages Eligible for Study
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Minimum Age: 10 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Procedure: Different motor function tests|Time to rise from a chair, time to go from lying to sitting, time to go from lying to standing, time to cover 10 meters, time to climb 4 steps|
|Procedure: Manual dexterity assessment|Purdue pegboard test|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Knee flexion and extension strength |  | at baseline | 
| Knee flexion and extension strength |  | 2 years after baseline | 
| Knee flexion and extension strength |  | 4 years after baseline | 
| Time to perform each motor function test |  | at baseline | 
| Time to perform each motor function test |  | 2 years after baseline | 
| Time to perform each motor function test |  | 4 years after baseline | 
| Gait speed measured during the 6 minutes walk test |  | at baseline | 
| Gait speed measured during the 6 minutes walk test |  | 2 years after baseline | 
| Gait speed measured during the 6 minutes walk test |  | 4 years after baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Accelerometric variables measured for the 6 minutes walk test |  | At baseline | 
| Accelerometric variables measured for the 6 minutes walk test |  | 2 years after baseline | 
| Accelerometric variables measured for the 6 minutes walk test |  | 4 years after baseline | 
| NMR variables measured during each specific NMR sequence |  | at baseline | 
| NMR variables measured during each specific NMR sequence |  | 2 years after baseline | 
| NMR variables measured during each specific NMR sequence |  | 4 years after baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Neuromuscular Disorders, GSD III, glycogen storage disease