Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT06425952 |
| Other study ID # |
OSRSCP-EquiCMT |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
May 1, 2024 |
| Est. completion date |
May 30, 2026 |
Study information
| Verified date |
May 2024 |
| Source |
IRCCS San Raffaele |
| Contact |
Stefano C Previtali, MD |
| Phone |
00390226433036 |
| Email |
neuromuscolare[@]hsr.it |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical 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 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.
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.
