Prospective Cohort Study of Neurogenetic Diseases

Launched by UNIVERSITY HOSPITAL, BORDEAUX · Sep 15, 2023

Keywords

ClinConnect Summary

This clinical trial, called the Prospective Cohort Study of Neurogenetic Diseases, is focused on understanding rare genetic diseases that affect the nervous system. The main goal is to create a streamlined process for patients with these conditions to participate in research studies. By collecting detailed information about the patients and their biological samples, researchers hope to foster collaboration between clinical and laboratory teams. This could ultimately lead to new treatments and therapeutic trials for these genetic diseases.

To participate, individuals must be at least 6 years old and have a confirmed diagnosis of a neurogenetic disease. For those who are adults (18 years and older), they should be matched in age and gender to an adult patient in the study. Participants can expect to provide blood samples and, in some cases, undergo a procedure called a lumbar puncture, which involves collecting spinal fluid for testing. It's important to note that this study is currently looking for participants, and certain individuals, such as pregnant or breastfeeding women, and those with specific health issues, cannot take part. This trial aims to bring hope for better understanding and treatments for those affected by neurogenetic diseases.

Gender

ALL

Eligibility 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