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

Primary Purpose

Charcot-Marie-Tooth Type 1A Neuropathy

Status

Recruiting

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

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

About this trial

This is an interventional diagnostic trial for Charcot-Marie-Tooth Type 1A Neuropathy focused on measuring Charcot-Marie-Tooth disease type 1A neuropathy, Fall risk, Walking, Timed Up and Go test, 6-Minutes Walk test

Eligibility Criteria

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

Inclusion Criteria:

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
Listening and written French
Strength of the quadriceps superior to 2/5 MMT MRC
Agreement after written information, clear and honest about the purpose of the study, the nature of the tests and their possible side effects or bothersome
Health insurance cover

Exclusion Criteria:

Presence of other neurological comorbidity
Presence of coronary artery disease unstabilized
Peripheral neuropathy of other causes: diabetes, monoclonal gammopathy, malignancy, solid cancer, systemic autoimmune disease (lupus, Sjögren's disease, Wegener sarcoidosis ...), infectious disease (viral hepatitis, HIV ...), drugs known to be responsible for iatrogenic neuropathy.
Gait trouble of other origin
Patients unable to give their consent.
Intellectual deficit that does not allow to comply with tests
Patient under guardianship, or protection of justice.

Sites / Locations

CHU de Clermont-FerrandRecruiting

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Experimental cohort

Arm Description

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).

Outcomes

Primary Outcome Measures

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.

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.

Secondary Outcome Measures

: Muscle Strength measured by Medical Research Council (MRC) Scale

The muscle scale grades muscle power on a scale of 0 to 5 in relation to the maximum expected for that muscle. The patient's effort is graded on a scale of 0-5: Grade 5: Muscle contracts normally against full resistance and Grade 0: No movement is observed.

Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).

Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s will be measured with the device.

Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).

Maximum voluntary isometric strength of the quadriceps muscles will be measured with the CYBEX device.

Body Mass Index (Kg/m²).

BMI will be calculated (weight in kilograms divided by height in meters squared).

Height (cm).

Height will be measured with a wall mounted tape measure and according to the ISAK recommendations.

Weight (Kg).

Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations.

Sarcopenia risk.

Sarcopenia risk will be evaluated with the SARC-F Questionnaire.

Full Information

NCT ID

NCT05142059

First Posted

October 12, 2021

Last Updated

August 28, 2023

Sponsor

University Hospital, Clermont-Ferrand

1. Study Identification

Unique Protocol Identification Number

NCT05142059

Brief Title

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

Acronym

DeteCTCMT

Official Title

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

Study Type

Interventional

2. Study Status

Record Verification Date

August 2023

Overall Recruitment Status

Recruiting

Study Start Date

September 3, 2020 (Actual)

Primary Completion Date

September 2023 (Anticipated)

Study Completion Date

September 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

University Hospital, Clermont-Ferrand

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

Brief Summary

The main objective of this study is to explore the relationship between the onset of fall and the time taken to complete the Timed Up and Go test (TUG) in this CMT1A patient population. The investigators hypothesize that patients with balance disorders and therefore a risk of major fall will require a longer time to perform the Timed Up and Go test. In addition, it seems important to confirm that the severity of the disease has a negative impact on the frequency of balance disorders.

Detailed Description

Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of different clinical elements (muscular strength deficit, walking and balance disorders, podological impairment), patients with CMT seem to be able to present an increased risk of fall. In 2017 pilot study supports this. More recently, a study by Ramdharry et al. appears to confirm this with a cohort of 252 patients with CMT, 86% of whom have experienced at least one major fall or loss of balance. This increased incidence of falls is also found in children and adolescents with CMT with consequences in terms of injury and management. Systematic screening of the risk of falls in this population is necessary, but no prospective studies on the occurrence of falls and its detection have yet been carried out in this population. A study focusing on this issue in order to standardize the assessment of postural control disorders using a simple test of common clinical practice seems necessary.

6. Conditions and Keywords

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

Charcot-Marie-Tooth Type 1A Neuropathy

Keywords

Charcot-Marie-Tooth disease type 1A neuropathy, Fall risk, Walking, Timed Up and Go test, 6-Minutes Walk test

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Model Description

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.

Masking

None (Open Label)

Allocation

N/A

Enrollment

40 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

Experimental cohort

Arm Type

Experimental

Arm Description

Intervention Type

Diagnostic Test

Intervention Name(s)

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

Intervention Description

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.

Primary Outcome Measure Information:

Title

Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds)

Description

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.

Time Frame

1 day , 6 months, 12 months

Title

Main dependent variable: Self-reported occurrence of fall.

Description

Time Frame

6 months , 12 months

Secondary Outcome Measure Information:

Title

: Muscle Strength measured by Medical Research Council (MRC) Scale

Description

Time Frame

Day 0 , 12 months

Title

Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).

Description

Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s will be measured with the device.

Time Frame

Day 0 , 12 months

Title

Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).

Description

Maximum voluntary isometric strength of the quadriceps muscles will be measured with the CYBEX device.

Time Frame

Day 0 , 12 months

Title

Body Mass Index (Kg/m²).

Description

BMI will be calculated (weight in kilograms divided by height in meters squared).

Time Frame

Day 0 , 12 months

Title

Height (cm).

Description

Height will be measured with a wall mounted tape measure and according to the ISAK recommendations.

Time Frame

Day 0 , 12 months

Title

Weight (Kg).

Description

Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations.

Time Frame

Day 0 , 12 months

Title

Sarcopenia risk.

Description

Sarcopenia risk will be evaluated with the SARC-F Questionnaire.

Time Frame

: Day 0 , 12 months

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: 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 Listening and written French Strength of the quadriceps superior to 2/5 MMT MRC Agreement after written information, clear and honest about the purpose of the study, the nature of the tests and their possible side effects or bothersome Health insurance cover Exclusion Criteria: Presence of other neurological comorbidity Presence of coronary artery disease unstabilized Peripheral neuropathy of other causes: diabetes, monoclonal gammopathy, malignancy, solid cancer, systemic autoimmune disease (lupus, Sjögren's disease, Wegener sarcoidosis ...), infectious disease (viral hepatitis, HIV ...), drugs known to be responsible for iatrogenic neuropathy. Gait trouble of other origin Patients unable to give their consent. Intellectual deficit that does not allow to comply with tests Patient under guardianship, or protection of justice.

Central Contact Person:

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

Lise LACLAUTRE

Phone

+33473754963

promo_interne_drci@chu-clermontferrand.fr

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Emmanuel Coudeyre

Organizational Affiliation

University Hospital, Clermont-Ferrand

Official's Role

Principal Investigator

Facility Information:

Facility Name

CHU de Clermont-Ferrand

City

Clermont-Ferrand

ZIP/Postal Code

63000

Country

France

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Lise Laclautre

Phone

+33473754963

promo_interne_drci@chu-clermontferrand.fr

First Name & Middle Initial & Last Name & Degree

Emmanuel Coudeyre

12. IPD Sharing Statement

Citations:

PubMed Identifier

20850975

Citation

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.

Results Reference

result

PubMed Identifier

23182641

Citation

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.

Results Reference

result

PubMed Identifier

22475878

Citation

Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H, Benchortane M, Staccini P, Lanteri-Minet M, Desnuelle C. Pain assessment in Charcot-Marie-Tooth (CMT) disease. Ann Phys Rehabil Med. 2012 Apr;55(3):160-73. doi: 10.1016/j.rehab.2012.02.005. Epub 2012 Mar 6. English, French.

Results Reference

result

PubMed Identifier

31652506

Citation

Reynaud V, Muti D, Pereira B, Greil A, Caillaud D, Richard R, Coudeyre E, Costes F. A TUG Value Longer Than 11 s Predicts Fall Risk at 6-Month in Individuals with COPD. J Clin Med. 2019 Oct 22;8(10):1752. doi: 10.3390/jcm8101752.

Results Reference

result

PubMed Identifier

25286435

Citation

Anens E, Emtner M, Hellstrom K. Exploratory study of physical activity in persons with Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. 2015 Feb;96(2):260-8. doi: 10.1016/j.apmr.2014.09.013. Epub 2014 Oct 5.

Results Reference

result

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

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