NCT01563705

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
30

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Feb 2011

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2011

Completed
1.1 years until next milestone

First Submitted

Initial submission to the registry

March 21, 2012

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 27, 2012

Completed
4.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2016

Completed
Last Updated

December 20, 2012

Status Verified

December 1, 2012

Enrollment Period

5.5 years

First QC Date

March 21, 2012

Last Update Submit

December 19, 2012

Conditions

Keywords

Neuromuscular DisordersGSD IIIglycogen storage disease

Outcome Measures

Primary Outcomes (9)

  • 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 Outcomes (6)

  • 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

  • +1 more secondary outcomes

Interventions

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

Purdue pegboard test

Eligibility Criteria

Age10 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • Pregnant and lactating women

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Institut de Myologie

Paris, France

RECRUITING

MeSH Terms

Conditions

Neuromuscular DiseasesGlycogen Storage Disease Type IIIGlycogen Storage Disease

Condition Hierarchy (Ancestors)

Nervous System DiseasesCarbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Central Study Contacts

Pierre Carlier, MD, PhD

CONTACT

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 21, 2012

First Posted

March 27, 2012

Study Start

February 1, 2011

Primary Completion

August 1, 2016

Study Completion

August 1, 2016

Last Updated

December 20, 2012

Record last verified: 2012-12

Locations