Impact of Sensory, Motor and Vestibular Deficit on the Postural Stability of CMT Patients (EquiCMT)

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.

Study Overview

• Status: Recruiting
• Conditions: Hereditary Neuropathy

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 Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Stefano C Previtali, MD; Phone Number: 00390226433036; Email: neuromuscolare@hsr.it
• Study Contact Backup: Name: Benedetta Sorrenti, MD; Phone Number: 00390226433036; Email: neuromuscolare@hsr.it

Study Locations

• Italy
  • Milano, Italy, 20132
    • Recruiting
    • Dept. of Neurology, IRCCS Ospedale San Raffaele
    • Contact: Stefano C Previtali, MD; Phone Number: 00390226433036; Email: neuromuscolare@hsr.it
    • Contact: Benedetta Sorrenti, MD; Phone Number: 00390226433036; Email: neuromuscolare@hsr.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

10 CMT1A patient, 10 CMT2, 10 HMN, 10 sensory neuropathies, 10 distal myopathies, 10 healthy controls.

Description

Inclusion Criteria:

• CMT or HMN or sensory neuropathy or distal myopathy

Exclusion Criteria:

• unable to stand
• other neurological, psychiatric, or orthopedic disorders
• MMSE <28
• alcohol abuse
• intensive rehabilitation program

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
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 the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Postural equilibrium	How sensory and motor deficit influence the postural equilibrium	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Vestibular equilibrium	how vestibular system influence the postural equilibrium	12 months

Collaborators and Investigators

• Sponsor: IRCCS San Raffaele
• Investigators: Principal Investigator: Stefano C Previtali, MD, IRCCS Ospedale San Raffaele

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2024
• Primary Completion (Estimated): May 30, 2026
• Study Completion (Estimated): May 30, 2026

Study Registration Dates

• First Submitted: May 17, 2024
• First Submitted That Met QC Criteria: May 17, 2024
• First Posted (Actual): May 23, 2024

Study Record Updates

• Last Update Posted (Actual): May 24, 2024
• Last Update Submitted That Met QC Criteria: May 22, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Keywords: equilibrium; CMT neuropathy
• Other Study ID Numbers: OSRSCP-EquiCMT

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No