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

Neuromuscular Disorders Clinical Trial

— PRO GSDIII  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01563705
• Other study ID #: 2010-A00615-34
• Status: Recruiting
• Phase: N/A
• First received: March 21, 2012
• Last updated: December 19, 2012
• Start date: February 2011
• Est. completion date: August 2016

Study information

• Verified date: December 2012
• Source: Institut de Myologie, France
• Contact: Pascal Laforet, MD
• Phone: 00 331 42 16 37 75
• Email: pascal.laforet[@]psl.aphp.fr
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: August 2016
• Est. primary completion date: August 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 10 Years and older

Eligibility

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

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease Type III
• Neuromuscular Diseases
• Neuromuscular Disorders

Intervention

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
• Manual dexterity assessment
Purdue pegboard test

Locations

Country	Name	City	State
France	Institut de Myologie	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Institut de Myologie, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Knee flexion and extension strength		at baseline	No
Primary	Knee flexion and extension strength		2 years after baseline	No
Primary	Knee flexion and extension strength		4 years after baseline	No
Primary	Time to perform each motor function test		at baseline	No
Primary	Time to perform each motor function test		2 years after baseline	No
Primary	Time to perform each motor function test		4 years after baseline	No
Primary	Gait speed measured during the 6 minutes walk test		at baseline	No
Primary	Gait speed measured during the 6 minutes walk test		2 years after baseline	No
Primary	Gait speed measured during the 6 minutes walk test		4 years after baseline	No
Secondary	Accelerometric variables measured for the 6 minutes walk test		At baseline	No
Secondary	Accelerometric variables measured for the 6 minutes walk test		2 years after baseline	No
Secondary	Accelerometric variables measured for the 6 minutes walk test		4 years after baseline	No
Secondary	NMR variables measured during each specific NMR sequence		at baseline	No
Secondary	NMR variables measured during each specific NMR sequence		2 years after baseline	No
Secondary	NMR variables measured during each specific NMR sequence		4 years after baseline	No