NCT06048523

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P75+ for not_applicable

Timeline
50mo left

Started Jul 2024

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress30%
Jul 2024Jul 2030

First Submitted

Initial submission to the registry

June 13, 2023

Completed
3 months until next milestone

First Posted

Study publicly available on registry

September 21, 2023

Completed
10 months until next milestone

Study Start

First participant enrolled

July 18, 2024

Completed
6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2030

Last Updated

February 25, 2025

Status Verified

January 1, 2025

Enrollment Period

6 years

First QC Date

June 13, 2023

Last Update Submit

February 21, 2025

Conditions

Genetic DiseaseNervous System Diseases

Keywords

HubTranslational researchNeurogenetics disordersBiocollection

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (2)

Patient cohort

OTHER

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

Control cohort

OTHER

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

Procedure: Control cohort

Interventions

Patient cohortPROCEDURE

* 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

Patient cohort
Control cohortPROCEDURE

* 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

Control cohort

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Chu de Bordeaux

Bordeaux, France

RECRUITING

MeSH Terms

Conditions

Genetic Diseases, InbornNervous System Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Chloe ANGELINI, MD

    University Hospital, Bordeaux

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Chloe ANGELINI, MD

CONTACT

+335 56 79 59 52chloe.angelini@chu-bordeaux.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 13, 2023

First Posted

September 21, 2023

Study Start

July 18, 2024

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2030

Last Updated

February 25, 2025

Record last verified: 2025-01

Locations

FR(1)