Charcot-Marie-Tooth Type 1A NeuropathyDeteCTCMTNCT05142059
Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
A study testing Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A in people with Charcot-Marie-Tooth Type 1A Neuropathy, run by University Hospital, Clermont-Ferrand at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Charcot-Marie-Tooth Type 1A Neuropathy
- What is being tested?
- Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 42 participants
- Where
- 1 siteFrance
- Study dates
- 3 Sep 2020to 13 Dec 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Charcot-Marie-Tooth Type 1A Neuropathy
- Being tested
- Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A
- Keywords
- Charcot-Marie-Tooth disease type 1A neuropathy, Fall risk, Walking, Timed Up and Go test, 6-Minutes Walk test
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Diagnostic Test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 6 months , 12 months
Secondary outcomes (7)
: 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.
Measured: Day 0 , 12 months
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.
Measured: Day 0 , 12 months
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.
Measured: Day 0 , 12 months
Body Mass Index (Kg/m²).
BMI will be calculated (weight in kilograms divided by height in meters squared).
Measured: Day 0 , 12 months
Height (cm).
Height will be measured with a wall mounted tape measure and according to the ISAK recommendations.
Measured: Day 0 , 12 months
Weight (Kg).
Weight will be measured with the medical body weight scale SECA® and according to the ISAK recommendations.
Measured: Day 0 , 12 months
Sarcopenia risk.
Sarcopenia risk will be evaluated with the SARC-F Questionnaire.
Measured: : Day 0 , 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2021
- Study start3 Sep 2020
- Primary completion18 Dec 2023
- Study completion13 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Charcot-Marie-Tooth Type 1A NeuropathyStudies of the same condition, open and under way.
- More trials run by University Hospital, Clermont-FerrandThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- 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)
- Enrolment
- 42 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Clermont-Ferrand
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Emmanuel Coudeyre, Principal investigator, University Hospital, Clermont-Ferrand
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05142059
- Sponsor's protocol ID
- RBHP 2020 REYNAUD 2
- Other IDs
- 2020-A00344-35
- Acronym
- DeteCTCMT
- Status last verified
- Dec 2024
- First submitted
- 12 Oct 2021
- Last updated
- 27 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 20850975Ramdharry 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.
PubMed 23182641Ribiere 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.
PubMed 22475878Reynaud 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.
PubMed 31652506Anens 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.
PubMed 25286435
Study at a glance
From the registry record, last updated by the sponsor on 27 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
- ClinicalTrials.gov ID
- NCT05142059
- Acronym / sponsor ID
- DeteCTCMT / RBHP 2020 REYNAUD 2
- Conditions
- 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
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 42 participants (actual)
- Lead sponsor
- University Hospital, Clermont-FerrandUniversity, hospital or other
- Study start
- 3 Sep 2020 (actual)
- Primary completion
- 18 Dec 2023 (actual)
- Study completion
- 13 Dec 2024 (actual)
- First posted
- 2 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- 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.
| Arm | Type | Receives |
|---|---|---|
| Experimental cohort | Experimental | Diagnostic Test: Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1AParticipants 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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1AThe 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. | Diagnostic test | Experimental cohort |
Primary outcome
Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds)
Time frame: 1 day , 6 months, 12 months
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.
Time frame: 6 months , 12 months
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.
7 secondary outcomes
: Muscle Strength measured by Medical Research Council (MRC) Scale
Time frame: Day 0 , 12 months
Maximum voluntary isokinetic strength of the quadriceps muscles at 30°/s (eccentric contraction) (Nm).
Time frame: Day 0 , 12 months
Maximum voluntary isometric strength of the quadriceps muscles at 45° (Nm).
Time frame: Day 0 , 12 months
Body Mass Index (Kg/m²).
Time frame: Day 0 , 12 months
Height (cm).
Time frame: Day 0 , 12 months
Weight (Kg).
Time frame: Day 0 , 12 months
Sarcopenia risk.
Time frame: : Day 0 , 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Dec 2024.
- Results publication: PubMed 20850975Reilly 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 publication: PubMed 23182641Ramdharry 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 publication: PubMed 22475878Ribiere 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 publication: PubMed 31652506Reynaud 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 publication: PubMed 25286435Anens 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emmanuel Coudeyre principal investigator
University Hospital, Clermont-Ferrand
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Exploratory physiopathology study, including non-invasive functional explorations carried out in patients with Charcot-Marie-Tooth disease type 1A in people with Charcot-Marie-Tooth Type 1A Neuropathy, run by University Hospital, Clermont-Ferrand at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Main explanatory variable: Time to complete the Timed Up and Go test (TUG) (in seconds) (time frame: 1 day , 6 months, 12 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05142059, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Dec 2024.