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Prospective Follow-up of Patients With Glycogen Storage Disease Type III (PRO GSDIII)

Primary Purpose

Neuromuscular Disorders

Status

Unknown status

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

Different motor function tests

Manual dexterity assessment

About this trial

This is an interventional diagnostic trial for Neuromuscular Disorders focused on measuring Neuromuscular Disorders, GSD III, glycogen storage disease

Eligibility Criteria

10 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Institut de MyologieRecruiting

Outcomes

Primary Outcome Measures

Knee flexion and extension strength

Time to perform each motor function test

Gait speed measured during the 6 minutes walk test

Secondary Outcome Measures

Accelerometric variables measured for the 6 minutes walk test

NMR variables measured during each specific NMR sequence

Full Information

NCT ID

NCT01563705

First Posted

March 21, 2012

Last Updated

December 19, 2012

Sponsor

Institut de Myologie, France

1. Study Identification

Unique Protocol Identification Number

NCT01563705

Brief Title

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

Acronym

PRO GSDIII

Official Title

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

Study Type

Interventional

2. Study Status

Record Verification Date

December 2012

Overall Recruitment Status

Unknown status

Study Start Date

February 2011 (undefined)

Primary Completion Date

August 2016 (Anticipated)

Study Completion Date

August 2016 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Institut de Myologie, France

4. Oversight

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Neuromuscular Disorders

Keywords

Neuromuscular Disorders, GSD III, glycogen storage disease

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

30 (Anticipated)

8. Arms, Groups, and Interventions

Intervention Type

Procedure

Intervention Name(s)

Different motor function tests

Intervention Description

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

Intervention Type

Procedure

Intervention Name(s)

Manual dexterity assessment

Intervention Description

Purdue pegboard test

Primary Outcome Measure Information:

Title

Knee flexion and extension strength

Time Frame

at baseline

Title

Knee flexion and extension strength

Time Frame

2 years after baseline

Title

Knee flexion and extension strength

Time Frame

4 years after baseline

Title

Time to perform each motor function test

Time Frame

at baseline

Title

Time to perform each motor function test

Time Frame

2 years after baseline

Title

Time to perform each motor function test

Time Frame

4 years after baseline

Title

Gait speed measured during the 6 minutes walk test

Time Frame

at baseline

Title

Gait speed measured during the 6 minutes walk test

Time Frame

2 years after baseline

Title

Gait speed measured during the 6 minutes walk test

Time Frame

4 years after baseline

Secondary Outcome Measure Information:

Title

Accelerometric variables measured for the 6 minutes walk test

Time Frame

At baseline

Title

Accelerometric variables measured for the 6 minutes walk test

Time Frame

2 years after baseline

Title

Accelerometric variables measured for the 6 minutes walk test

Time Frame

4 years after baseline

Title

NMR variables measured during each specific NMR sequence

Time Frame

at baseline

Title

NMR variables measured during each specific NMR sequence

Time Frame

2 years after baseline

Title

NMR variables measured during each specific NMR sequence

Time Frame

4 years after baseline

10. Eligibility

Sex

All

Minimum Age & Unit of Time

10 Years

Accepts Healthy Volunteers

Eligibility Criteria

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

Central Contact Person:

First Name & Middle Initial & Last Name or Official Title & Degree

Pascal Laforet, MD

Phone

00 331 42 16 37 75

pascal.laforet@psl.aphp.fr

First Name & Middle Initial & Last Name or Official Title & Degree

Pierre Carlier, MD, PhD

p.carlier@institut-myologie.org

Facility Information:

Facility Name

Institut de Myologie

City

Paris

Country

France

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Pascal Laforet, MD

Phone

00 331 42 16 37 75

pascal.laforet@psl.aphp.fr

First Name & Middle Initial & Last Name & Degree

Pierre Carlier, MD, PhD

p.carlier@institut-myologie.org

12. IPD Sharing Statement

Learn more about this trial

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

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