Prospective Cohort Study of Neurogenetic Diseases

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Study 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.

Eligibility

Primary outcome measure(s)

• Constitution of a biobank of NGD patients correlated with clinical data — Inclusion visit, 12 months visit and 24 months visit
  Number of participants for whom minimum clinical data have been collected and for whom at least one at least one protocol sample has been collected

Trial sites (1)

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