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

Not Applicable

• Conditions: Neuromuscular Disorders

• Registration Number: NCT01563705
• Lead Sponsor: Institut de Myologie, France

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2011-02
• Study First Submitted: 2012-03-21
• Study First Submitted QC: 2012-03-26
• Study First Posted: 2012-03-27
• Status Verified: 2012-12
• Last Update Submitted: 2012-12-19
• Last Update Posted: 2012-12-20
• Primary Completion: 2016-08
• Study Completion: 2016-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Knee flexion and extension strength	4 years after baseline
Time to perform each motor function test	4 years after baseline
Gait speed measured during the 6 minutes walk test	4 years after baseline

Secondary Outcome Measures

Name	Time	Method
Accelerometric variables measured for the 6 minutes walk test	4 years after baseline
NMR variables measured during each specific NMR sequence	4 years after baseline

Trial Locations

Locations (1)

Institut de Myologie; 🇫🇷 Paris, France