Prospective Cohort Study of Neurogenetic Diseases (CNGD)

February 21, 2025 updated by: University Hospital, Bordeaux

Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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

Study Type

Interventional

Enrollment (Estimated)

150

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Patient-specific inclusion criteria
  • Age ≥ 6 years

  • Patient with a molecularly identified NGD

    o Specific inclusion criteria for controls

  • 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
  • Specific non-inclusion criteria for controls: Criterion of a neurodegenerative or inflammatory pathology of the central nervous system

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: 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)
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
Other: Control cohort
Patients control: 10 controls with lumbar puncture and 10 controls without LP (Lumbar Puncture)
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Constitution of a biobank of NGD patients correlated with clinical data
Time Frame: 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
Inclusion visit, 12 months visit and 24 months visit

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Investigators

  • Principal Investigator: Chloe ANGELINI, MD, CHU Bordeaux

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 18, 2024

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2030

Study Registration Dates

First Submitted

June 13, 2023

First Submitted That Met QC Criteria

September 15, 2023

First Posted (Actual)

September 21, 2023

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

February 21, 2025

Last Verified

January 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHUBX 2022/73

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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