Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions

Launched by IMAGINE INSTITUTE · Jan 23, 2024

Keywords

ClinConnect Summary

This clinical trial, led by Prof. Yanick Crow and his team, is studying rare genetic diseases that affect both the immune system and the nervous system. These conditions can severely impact patients' quality of life and often go undiagnosed, with no effective cure available. The research aims to understand these diseases better, especially how they are connected to each other, by looking at patients with a family history of such conditions, as well as their unaffected relatives and control patients who do not have these diseases.

To participate in the trial, patients need to have a family history of genetic diseases affecting the immune and neurological systems, and they must agree to take part by signing a consent form. Unaffected family members can also join, as well as control patients who are healthy and have undergone surgery for other reasons. Participants can expect to contribute to valuable research that may help improve understanding and treatment options for these serious conditions. The trial is currently recruiting participants of all ages and genders.

Gender

ALL

Eligibility 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