Cohort study on neurogenetic diseases
Official title: Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research
Run by University Hospital, Bordeaux · NCT06048523 · Data updated 2026-11-12
This study is trying to help people with rare inherited brain disorders by collecting health information and samples over three years to improve research and future treatments.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 6 Years and up |
| Sex | All |
| Enrollment | 150 (estimated) |
| Sponsor | University Hospital, Bordeaux Academic / other |
| Locations | 1 site (Bordeaux) |
| Status | Recruiting |
| Started | July 18, 2024 |
| Main results expected | July 2030 |
| Study ends | July 2030 |
| Registry record updated | February 25, 2025 |
| Trial ID | NCT06048523 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients aged 6 years and older with a molecularly identified neurogenetic disease.
✕Probably not a fit
Patients who are pregnant, breastfeeding, or have contraindications to lumbar puncture may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study focuses on neurogenetic diseases, which are rare inherited neurological disorders. It aims to create a centralized approach for facilitating research participation through comprehensive clinical evaluations and the collection of biological samples. Patients with molecularly identified neurogenetic diseases will undergo annual assessments and sample collection to enhance understanding of these conditions and support future therapeutic trials. The study will last for three years and seeks to bridge clinical care and research.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential treatments for patients with neurogenetic diseases.
How similar studies have gone: Other studies have shown success in similar approaches, particularly in enhancing the understanding of genetic diseases and facilitating therapeutic developments.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Chu de Bordeaux
Bordeaux, France Recruiting
Study contacts
- Principal investigator: Chloe ANGELINI, MD — University Hospital, Bordeaux
- Study coordinator: Chloe ANGELINI, MD
- Email: chloe.angelini@chu-bordeaux.fr
- Phone: +335 56 79 59 52
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.