Prospective Cohort Study of Neurogenetic Diseases

Nervous System Diseases Clinical Trial

— CNGD  

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06048523
• Other study ID #: CHUBX 2022/73
• Status: Not yet recruiting
• Phase: N/A
• Start date: October 2023
• Est. completion date: July 2026

Study information

• Verified date: September 2023
• Source: University Hospital, Bordeaux
• Contact: Chloe ANGELINI, MD
• Phone: +335 56 79 59 52
• Email: chloe.angelini[@]chu-bordeaux.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: July 2026
• Est. primary completion date: July 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn
• Nervous System Diseases

Intervention

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
• 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

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Constitution of a biobank of NGD patients correlated with clinical data	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