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Prospective Cohort Study of Neurogenetic Diseases

NCT06048523 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 150

Last updated 2025-02-25

No results posted yet for this 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.

Conditions

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

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Chloe ANGELINI, MD · University Hospital, Bordeaux

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
6 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-07-18
Primary Completion
2030-07-31
Completion
2030-07-31

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06048523 on ClinicalTrials.gov