Prospective Cohort Study of Neurogenetic Diseases

NARecruitingINTERVENTIONAL
Enrollment

150

Participants

Timeline

Start Date

July 18, 2024

Primary Completion Date

July 31, 2030

Study Completion Date

July 31, 2030

Conditions
Genetic DiseaseNervous System Diseases
Interventions
PROCEDURE

Patient cohort

"* For patients: annual follow-up in Neurogenetic reference center, as part of routine care, with exhaustive standardised clinical evaluation~* Paraclinical monitoring (e.g. MRI, EEG, EMG, etc.) modelled on standard care according to current recommendations~* Biological samples offered to patients in the context of research:~ * Annual blood sample~ * Annual urine sample~ * Collection of 1 skin biopsy at the inclusion visit (for 30 patients)~ * Cerebrospinal fluid sample at the inclusion visit (for 15 patients"

PROCEDURE

Control cohort

"* controls without LP: 1 visit for blood, urine and optional skin biopsy~* controls with LP: additional blood and cerebrospinal fluid tubes for blood sampling and LP as part of routine care, without longitudinal follow-up"

Trial Locations (1)

Unknown

RECRUITING

Chu de Bordeaux, Bordeaux

All Listed Sponsors
lead

University Hospital, Bordeaux

OTHER