Hereditary NeuropathyEquiCMTNCT06425952
Impact of Sensory, Motor and Vestibular Deficit on the Postural Stability of CMT Patients
An observational study of Hereditary Neuropathy, run by IRCCS San Raffaele at 1 site in Italy.
Trial summary
Charcot-Marie-Tooth (CMT), a therapeutically orphan neuromuscular disease affecting one in 2,500 people, represents a challenge to the medical and scientific communities. Physiotherapeutic-rehabilitative strategies play a crucial role in the management of CMT, particularly addressing balance impairment, a key… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Neuropathy
- How many people
- 60 participants
- Where
- 1 siteItaly
- Study dates
- 1 May 2024to 30 May 2026
- Phase
- Observational
- 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
Study population: 10 CMT1A patient, 10 CMT2, 10 HMN, 10 sensory neuropathies, 10 distal myopathies, 10 healthy controls.
Who may be able to join
- CMT or HMN or sensory neuropathy or distal myopathy
Who cannot join
- unable to stand
- other neurological, psychiatric, or orthopedic disorders
- MMSE <28
- alcohol abuse
- intensive rehabilitation program
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Dept. of Neurology, IRCCS Ospedale San Raffaele
Milan, 20132
Stefano C Previtali, MD, 00390226433036, neuromuscolare@hsr.it
Benedetta Sorrenti, MD, 00390226433036, neuromuscolare@hsr.it
About this study
Charcot-Marie-Tooth (CMT), a therapeutically orphan neuromuscular disease affecting one in 2,500 people, represents a challenge to the medical and scientific communities. Physiotherapeutic-rehabilitative strategies play a crucial role in the management of CMT, particularly addressing balance impairment, a key disabling symptom. However, clinical studies in this field are limited. Our study aims to investigate the impact of strengh and somatosensory deficits on static and dynamic balance in CMT patients. The Investigators also aim to explore the involvement of the vestibular system and its correlation with postural instability. Furthermore, the Investigators seek to evaluate relationships between neurochemical biomarkers offering valuable insights for future targeted clinical studies.
Read the detailed description
A total of 60 patients will be recruited. To ensure adequate representation of the subgroups of interest, 10 patients with CMT1A (PMP22 gene duplication) and 10 patients with CMT2, regardless of their genotype, will be included. Additionally, three control groups, each comprising 10 subjects, will be included. The first group will consist of patients with motor symptoms, including those with hereditary motor neuropathy (HMN, 10 patients) or distal myopathy (MD, 10 patients). The second group will include patients with solely sensory symptoms, genetic neuropathies, or purely sensory acquired neuropathies such as HSN and neuropathies from anti-MAG antibodies. Finally, the third group will be composed of 10 healthy subjects. Each control subject will have comparable level of disability (motor or somatosensory), age, and gender to the enrolled CMT patients.
All participants must meet the following inclusion criteria to take part in the study:
- Age 18 years or older
- Subject has documented diagnosis of one of the following diseases (except from healthy controls):
- Hereditary sensory-motor neuropathy (CMT) confirmed by genetic analysis
- Hereditary motor neuropathy (HMN) confirmed by genetic analysis
- Hereditary sensory neuropathy (HSN) confirmed by genetic analysis
- Hereditary distal myopathy (MD) confirmed by genetic analysis
- Acquired sensory neuropathy: anti-MAG antibody neuropathy confirmed by neurophysiological, clinical and serological assessment.
The presence of any one of the following exclusion criteria will lead to the exclusion of the subject:
- Inability to maintain an upright position without assistance
- Presence of systemic, neurological (except for the neuropathies and hereditary myopathies under study), psychiatric, orthopedic or rheumatological diseases that may affect evaluation
- Mini Mental State Examination (MMSE)14 score less than 28
- History of alcohol or substance abuse
- Partecipation in intensive motor rehabilitation programs in the last three months.
- Conditions
- Hereditary Neuropathy
- Keywords
- CMT neuropathy, equilibrium
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CMT patients | patients with sensory-motor genetic neuropathy | |
| Motor patients | Patients with motor genetic neuropathy | |
| Sensory patients | Patients with sensory neuropathy | |
| Myopathic patients | Patients with distal myopathy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Postural equilibrium
How sensory and motor deficit influence the postural equilibrium
Measured: 12 months
Secondary outcomes (1)
Vestibular equilibrium
how vestibular system influence the postural equilibrium
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2024
- Study start1 May 2024
- Primary completion30 May 2026 (estimated)
- Study completion30 May 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary NeuropathyStudies of the same condition, open and under way.
- More trials run by IRCCS San RaffaeleThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefano Previtali, IRCCS San Raffaele
- Investigators
- Stefano C Previtali, MD, Principal investigator, IRCCS Ospedale San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06425952
- Sponsor's protocol ID
- OSRSCP-EquiCMT
- Acronym
- EquiCMT
- Status last verified
- May 2024
- First submitted
- 17 May 2024
- Last updated
- 24 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Impact of Sensory, Motor and Vestibular Deficit on the Postural Stability of CMT Patients
- ClinicalTrials.gov ID
- NCT06425952
- Acronym / sponsor ID
- EquiCMT / OSRSCP-EquiCMT
- Conditions
- Hereditary Neuropathy
- Keywords
- CMT neuropathy, equilibrium
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Study start
- 1 May 2024 (actual)
- Primary completion
- 30 May 2026 (estimated)
- Study completion
- 30 May 2026 (estimated)
- First posted
- 23 May 2024 (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.
Charcot-Marie-Tooth (CMT), a therapeutically orphan neuromuscular disease affecting one in 2,500 people, represents a challenge to the medical and scientific communities. Physiotherapeutic-rehabilitative strategies play a crucial role in the management of CMT, particularly addressing balance impairment, a key disabling symptom. However, clinical studies in this field are limited. Our study aims to investigate the impact of strengh and somatosensory deficits on static and dynamic balance in CMT patients. The Investigators also aim to explore the involvement of the vestibular system and its correlation with postural instability. Furthermore, the Investigators seek to evaluate relationships between neurochemical biomarkers offering valuable insights for future targeted clinical studies.
Detailed description
A total of 60 patients will be recruited. To ensure adequate representation of the subgroups of interest, 10 patients with CMT1A (PMP22 gene duplication) and 10 patients with CMT2, regardless of their genotype, will be included. Additionally, three control groups, each comprising 10 subjects, will be included. The first group will consist of patients with motor symptoms, including those with hereditary motor neuropathy (HMN, 10 patients) or distal myopathy (MD, 10 patients). The second group will include patients with solely sensory symptoms, genetic neuropathies, or purely sensory acquired neuropathies such as HSN and neuropathies from anti-MAG antibodies. Finally, the third group will be composed of 10 healthy subjects. Each control subject will have comparable level of disability (motor or somatosensory), age, and gender to the enrolled CMT patients.
All participants must meet the following inclusion criteria to take part in the study:
- Age 18 years or older
- Subject has documented diagnosis of one of the following diseases (except from healthy controls):
- Hereditary sensory-motor neuropathy (CMT) confirmed by genetic analysis
- Hereditary motor neuropathy (HMN) confirmed by genetic analysis
- Hereditary sensory neuropathy (HSN) confirmed by genetic analysis
- Hereditary distal myopathy (MD) confirmed by genetic analysis
- Acquired sensory neuropathy: anti-MAG antibody neuropathy confirmed by neurophysiological, clinical and serological assessment.
The presence of any one of the following exclusion criteria will lead to the exclusion of the subject:
- Inability to maintain an upright position without assistance
- Presence of systemic, neurological (except for the neuropathies and hereditary myopathies under study), psychiatric, orthopedic or rheumatological diseases that may affect evaluation
- Mini Mental State Examination (MMSE)14 score less than 28
- History of alcohol or substance abuse
- Partecipation in intensive motor rehabilitation programs in the last three months.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| CMT patients | – | –patients with sensory-motor genetic neuropathy |
| Motor patients | – | –Patients with motor genetic neuropathy |
| Sensory patients | – | –Patients with sensory neuropathy |
| Myopathic patients | – | –Patients with distal myopathy |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 10 CMT1A patient, 10 CMT2, 10 HMN, 10 sensory neuropathies, 10 distal myopathies, 10 healthy controls.
Key inclusion criteria (1 listed)
- CMT or HMN or sensory neuropathy or distal myopathy
Key exclusion criteria (5 listed)
- unable to stand
- other neurological, psychiatric, or orthopedic disorders
- MMSE <28
- alcohol abuse
- intensive rehabilitation program
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Postural equilibrium
Time frame: 12 months
How sensory and motor deficit influence the postural equilibrium
1 secondary outcome
Vestibular equilibrium
Time frame: 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 May 2024.
- Individual participant dataSharing planned: No
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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.
Stefano C Previtali, MD principal investigator
IRCCS Ospedale San Raffaele
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Neuropathy, run by IRCCS San Raffaele at 1 site in Italy.
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 1 inclusion and 5 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: status not confirmed, as of the sponsor's last update on 24 May 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 Italy. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Stefano C Previtali, MD (00390226433036, neuromuscolare@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Postural equilibrium (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 24 May 2024.