Prospective Cohort Study of Neurogenetic Diseases

NCT ID: NCT06048523

Last Updated: 2025-02-25

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 150 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2024-07-18
• Study Completion Date: 2030-07-31

Brief 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.

Detailed Description

Neurogenetic diseases (NGDs) represent rare inherited forms of neurological diseases. They constitute a constellation of different diseases, affecting neurodevelopment (syndromic or non-syndromic intellectual disabilities (ID), with or without autism spectrum disorders (ASD), epileptic encephalopathies, neurodevelopmental disorders (NDD) with or without ID... ) or leading to early neurodegeneration (Huntington's and Huntington-like disease, hereditary ataxias, hereditary spastic paraplegias (HSP), primary dystonias, neurodegeneration due to intracerebral iron accumulation (NBIA), neurometabolic diseases, etc.). Progress in the knowledge of the genetic causes of NGDs is unceasing, with the discovery of new genes involved in their determinism being continuous. As a result, the boundary between routine care and clinical research is extremely narrow and blurred, and the two activities are totally intertwined and interdependent in the care of patients.

For patients with NGDs already characterized by molecular genetics, at an early, intermediate or presymptomatic stage, we will perform a comprehensive annual standardized clinical and paraclinical evaluation for deep phenotyping as part of routine care; collection of biological samples (annual blood and urine sampling, optional skin biopsy and optional cerebrospinal fluid (CSF) sampling), for functional analyses and better understanding of the pathophysiological mechanisms involved. This study will last 3 years

Conditions

Genetic Disease; Nervous System Diseases

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Patient cohort

Patients with a molecularly identified NGD (80 patients in total of which 15 with LP (Lumbar Puncture) and of which 30 with cutaneous biopsy)

Group Type: OTHER

Patient cohort

Intervention Type: PROCEDURE

• 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

Patients control: 10 controls with lumbar puncture and 10 controls without LP (Lumbar Puncture)

Group Type: OTHER

Control cohort

Intervention Type: PROCEDURE

• 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

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

Intervention Type: 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

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

• Age ≥ 6 years
• Patient with a molecularly identified NGD

• For the 10 controls with lumbar puncture (LP): person who performed an LP for medical reasons and who consented to participate in the collection of biological samples
• Age ≥ 18 years
• Person matched in age (+/- 5 years) and sex to adult patient with NGD at the time of collection

Exclusion Criteria

• Participation in an interventional clinical trial that may interfere with our study
• Refusal of blood collection
• Pregnant and breastfeeding women
• Only for patients performing LP: Contraindication to LP

• Minimum Eligible Age: 6 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Chloe ANGELINI, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Bordeaux

Locations

Chu de Bordeaux

Bordeaux, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Chloe ANGELINI, MD

Role: CONTACT

chloe.angelini@chu-bordeaux.fr

+335 56 79 59 52

Facility Contacts

CHLOE ANGELINI, MD

Role: primary

chloe.angelini@chu-bordeaux.fr

Other Identifiers

CHUBX 2022/73

Identifier Type: -

Identifier Source: org_study_id