Neuromuscular Disorders
Conditions
Keywords
Neuromuscular Disorders, GSD III, glycogen storage disease
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.
Interventions
PROCEDUREDifferent 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
PROCEDUREManual dexterity assessment
Purdue pegboard test
Sponsors
Institut de Myologie, France
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
10 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Knee flexion and extension strength | at baseline |
| Time to perform each motor function test | at baseline |
| Gait speed measured during the 6 minutes walk test | at baseline |
Secondary
| Measure | Time frame |
|---|---|
| Accelerometric variables measured for the 6 minutes walk test | At baseline |
| NMR variables measured during each specific NMR sequence | at baseline |
Countries
France
Contacts
Primary ContactPascal Laforet, MD
Backup ContactPierre Carlier, MD, PhD
Outcome results
None listed