Ignite Creation Date:
2024-06-16 @ 11:47 AM
Last Modification Date:
2024-10-26 @ 3:30 PM
Study NCT ID:
NCT06425952
Status:
RECRUITING
Last Update Posted:
2024-05-24
First Post:
2024-05-17
Brief Title:
Impact of Sensory Motor and Vestibular Deficit on the Postural Stability of CMT Patients
Sponsor:
IRCCS San Raffaele
Organization:
IRCCS San Raffaele
Study Overview
Official Title:
Impact of Sensory Motor and Vestibular Deficit on the Postural Stability of CMT Patients
Status:
RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EquiCMT
Brief Summary:
Charcot-Marie-Tooth CMT a therapeutically orphan neuromuscular disease affecting one in 2500 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 MMSE14 score less than 28
History of alcohol or substance abuse
Partecipation in intensive motor rehabilitation programs in the last three months
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 MMSE14 score less than 28
History of alcohol or substance abuse
Partecipation in intensive motor rehabilitation programs in the last three months
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None