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Outcome Measures

Primary Outcomes (2)

Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds)
It uses the time that a person takes to rise from a chair, walk three meters, turn around, walk back to the chair, and sit down. Investigators measures an evolution or not at 6 months and 1 years.
1 day , 6 months, 12 months
Main dependent variable: Self-reported occurrence of fall.
A fall book will be issued to the patient during the first consultation to trace the date, the circumstances of occurrence. Investigators seek to find an improvement or not in the number of falls at 6 months and 1 year.
6 months , 12 months

Secondary Outcomes (7)

: Muscle Strength measured by Medical Research Council (MRC) Scale
Day 0 , 12 months
Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).
Day 0 , 12 months
Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).
Day 0 , 12 months
Body Mass Index (Kg/m²).
Day 0 , 12 months
Height (cm).
Day 0 , 12 months
+2 more secondary outcomes

Study Arms (1)

Experimental cohort

EXPERIMENTAL

Participants will be involved in an evaluation program combining physical tests and self-administered questionnaires. Participants will be followed for 1 year with evaluations taking place at 6 months (occurrence of a fall) and at 1 year (the same evaluation, as initial).

Diagnostic Test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A

Interventions

Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1ADiagnostic test

The data of the gait analysis, posturography and strength analyses as well as the questionnaires' scores will be taken into account in this research. At 6 months and at 1 year, occurrence of a fall will be recorded in order to prospectively monitor this parameter. A final analysis will be carried out at 1 year from the first according to the same methods as the initial assessment.

Experimental cohort

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age18 Years+

Sexall

Healthy VolunteersNo

Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

Patients older than 18 years
Diagnosis of Charcot Marie Tooth disease, type 1A confirmed by molecular biology (duplication 17.p11.2) and by a pathological electromyogram, that is to say with demyelinating impairment (+/- axonal) dependent length

Related Publications (5)

Reilly MM, Shy ME, Muntoni F, Pareyson D. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord. 2010 Dec;20(12):839-46. doi: 10.1016/j.nmd.2010.08.001. Epub 2010 Sep 17. No abstract available.

PMID: 20850975RESULT

Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF. Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2012 Dec;22 Suppl 3:S208-13. doi: 10.1016/j.nmd.2012.10.016.

PMID: 23182641RESULT

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor NeuropathyNervous System MalformationsNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathiesPeripheral Nervous System DiseasesNeuromuscular DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Design

Study Type

interventional

Phase

not applicable

Allocation

Masking

NONE

Purpose

DIAGNOSTIC

Intervention Model

SINGLE GROUP

Model Details: The patients will be recruited in the PMR and neurology departments within the framework of their pathology (current care) and via an older cohort of CMT1A. During a follow-up medical consultation, patients will be informed about the study. If patients express an interest, participants will be listed as a potential attendee. After reflection, patients will be contacted to confirm their participation and an appointment will be set. An assessment will be carried out within the PMR Department of Clermont-Ferrand University Hospital. The doctor will present the protocol in detail to the patients. Upon reading the information form, the doctor will obtain written consent. Clinical information and the results of the various tests will be recorded. Participants will then be compared with each other and over time. Secondly, patients will be contacted by telephone at 6 months to receive any self-reported fall via a standardized questionnaire.

Sponsor Type

OTHER

Responsible Party

SPONSOR

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (7)

Study Arms (1)

Experimental cohort

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (5)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (7)

Study Arms (1)

Experimental cohort

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (5)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations