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Prospective Cohort Study of Neurogenetic Diseases
Sponsor: University Hospital, Bordeaux
Summary
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. It is positioned as a true hub allowing new connections between clinical and basic research teams and ultimately as an incubator for translational projects for NGDs, in order to be able to initiate therapeutic trials, the ultimate objective of clinical and translational research.
Official title: Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research
Key Details
Gender
All
Age Range
6 Years - Any
Study Type
INTERVENTIONAL
Enrollment
150
Start Date
2024-07-18
Completion Date
2030-07
Last Updated
2025-02-25
Healthy Volunteers
Yes
Conditions
Interventions
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
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
Locations (1)
Chu de Bordeaux
Bordeaux, France