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Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers (CMT-TOOLS)

Primary Purpose

Charcot-Marie-Tooth Disease Type 1A

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Clinical evaluation
electrophysiological record
Muscle MRI
blood samples analysis
Sponsored by
Assistance Publique Hopitaux De Marseille
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional other trial for Charcot-Marie-Tooth Disease Type 1A

Eligibility Criteria

18 Years - 70 Years (Adult, Older Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

  • Patients with CMT 1A disease
  • Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region)

Exclusion Criteria:

  • Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease
  • With HIV or cancer
  • With a significant progressive disease in the previous month
  • With a contra-indication for MRI
  • With a dislocation, fracture, or recent surgery (less than 6 months before inclusion)
  • with alcohol or psychoactive substances abuse
  • Treated by an anti-inflammatory drug over the past four weeks
  • Pregnant or breastfeeding women
  • Homeless patients

Sites / Locations

  • Assistance Publique Hôpitaux de MarseilleRecruiting
  • CHU Gui de Chauliac, CHU MONTPELLIERRecruiting

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm 4

Arm Type

Experimental

Experimental

Experimental

Other

Arm Label

patients with mild CMT 1A disease

patients with moderate CMT 1A disease

patients with severe CMT 1A disease

control group

Arm Description

Charcot-Marie-Tooth Neuropathy Score between 1 and 10

Charcot-Marie-Tooth Neuropathy Score between 11 and 20

Charcot-Marie-Tooth Neuropathy Score ≥21

Healthy volunteers

Outcomes

Primary Outcome Measures

Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)
Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS)
Change of functional scores
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS2)
Change of functional scores at
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS)

Secondary Outcome Measures

Walkin test
Use of connected soles for walking test (Digitsole)

Full Information

First Posted
October 30, 2015
Last Updated
July 19, 2023
Sponsor
Assistance Publique Hopitaux De Marseille
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1. Study Identification

Unique Protocol Identification Number
NCT02596191
Brief Title
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
Acronym
CMT-TOOLS
Official Title
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
Study Type
Interventional

2. Study Status

Record Verification Date
July 2023
Overall Recruitment Status
Recruiting
Study Start Date
June 6, 2016 (Actual)
Primary Completion Date
June 6, 2026 (Anticipated)
Study Completion Date
December 6, 2027 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique Hopitaux De Marseille

4. Oversight

Data Monitoring Committee
No

5. Study Description

Brief Summary
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as outcome measures in future clinical trials.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Charcot-Marie-Tooth Disease Type 1A

7. Study Design

Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
80 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
patients with mild CMT 1A disease
Arm Type
Experimental
Arm Description
Charcot-Marie-Tooth Neuropathy Score between 1 and 10
Arm Title
patients with moderate CMT 1A disease
Arm Type
Experimental
Arm Description
Charcot-Marie-Tooth Neuropathy Score between 11 and 20
Arm Title
patients with severe CMT 1A disease
Arm Type
Experimental
Arm Description
Charcot-Marie-Tooth Neuropathy Score ≥21
Arm Title
control group
Arm Type
Other
Arm Description
Healthy volunteers
Intervention Type
Other
Intervention Name(s)
Clinical evaluation
Intervention Type
Other
Intervention Name(s)
electrophysiological record
Intervention Type
Other
Intervention Name(s)
Muscle MRI
Intervention Type
Other
Intervention Name(s)
blood samples analysis
Primary Outcome Measure Information:
Title
Change of functional scores
Description
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)
Time Frame
3 months, 12 months and 24 months
Title
Change of functional scores
Description
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS)
Time Frame
3 months, 12 months and 24 months
Title
Change of functional scores
Description
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS2)
Time Frame
3 months, 12 months and 24 months
Title
Change of functional scores at
Description
several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS)
Time Frame
3 months, 12 months and 24 months
Secondary Outcome Measure Information:
Title
Walkin test
Description
Use of connected soles for walking test (Digitsole)
Time Frame
12 months and 24 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
70 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria: Patients with CMT 1A disease Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region) Exclusion Criteria: Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease With HIV or cancer With a significant progressive disease in the previous month With a contra-indication for MRI With a dislocation, fracture, or recent surgery (less than 6 months before inclusion) with alcohol or psychoactive substances abuse Treated by an anti-inflammatory drug over the past four weeks Pregnant or breastfeeding women Homeless patients
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Shahram ATTARIAN, MD
Email
shahram.attarian@ap-hm.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Urielle Desalbres
Organizational Affiliation
Assistance Publique Hôpitaux de Marseille
Official's Role
Study Director
Facility Information:
Facility Name
Assistance Publique Hôpitaux de Marseille
City
Marseille
ZIP/Postal Code
13010
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Shahram Attarian, MD
Email
shahram.attarian@ap-hm.fr
Facility Name
CHU Gui de Chauliac, CHU MONTPELLIER
City
Montpellier
ZIP/Postal Code
34285
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
William Camu

12. IPD Sharing Statement

Learn more about this trial

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers

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