Characterizing genetic diseases affecting the immune and neurological systems
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
This study is trying to learn more about rare genetic diseases that affect the immune and nervous systems to help find better ways to diagnose and treat them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Imagine Institute Academic / other |
| Locations | 1 site (Paris, Île-de-France Region) |
| Trial ID | NCT06235580 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding genetic diseases that impact the immune and neurological systems, particularly those that are rare and often under-diagnosed. Led by Prof. Yanick Crow, the research aims to clinically define the phenotypes of these diseases, identify the responsible genes, and explore how genetic changes lead to these conditions. The study also includes analyzing immune responses in unaffected relatives and control patients to enhance understanding of these complex disorders. The ultimate goal is to develop diagnostic tests and potential treatments that could significantly benefit affected patients.
Who should consider this trial
Good fit: Ideal candidates include patients with a family history of genetic diseases affecting the immune and neurological systems.
Not a fit: Patients who do not have a genetic disease with immune and neurological dysfunction or are deprived of liberty may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic tools and treatments for patients suffering from severe genetic diseases with immune and neurological dysfunctions.
How similar studies have performed: While this approach is grounded in established genetic research methodologies, the specific focus on these rare diseases may present novel insights, as similar studies have had varying degrees of success.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria * Patients : * Have / present a family history of genetic disease with immune and neurological dysfunction. * Have signed an informed consent form. * Unaffected related subjects : * Be related to a patient included in this research. * Have signed an informed consent form. * Control patients * Be free of any genetic disease with immune and neurological dysfunction. * Have undergone surgery as part of their management * Have signed an informed consent form. Non-inclusion criteria ✓ Be deprived of liberty
Where this trial is running
Paris, Île-de-France Region
- Necker enfants malades Hospital — Paris, Île-de-France Region, France (Recruiting)
Study contacts
- Principal investigator: Yanick Crow, MD PhD — Institut Imagine
- Study coordinator: Yanick Crow, MD PhD
- Email: marie-louise.fremond@institutimagine.org
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.