NCT06235580

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Imagine Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment. Prof. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them. Initially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.

Detailed description

The research methodology is classic with regard to many genetic clinical studies, and aims to: * clinically define the phenotypes of these diseases (in this case, genetic diseases with immune and neurological dysfunctions) * identify the gene(s) responsible for each disease * Understand how changes in these genes and protein functions cause these diseases. It is possible that this research will ultimately lead to the creation of diagnostic tests (e.g. molecular diagnostic screening tests) and treatments that would be clinically very useful for the patients participating in the project. These discoveries could also improve our knowledge of other more common pathologies, particularly those associated with autoimmunity (e.g. when the body increases an immune response against its own tissues). As a complement to this global research project, Prof. Crow's team intends to study cell populations from patients with no inflammatory pathology, in order to analyze their basal levels of immune and inflammatory mediator production, as well as to assess their capacity (kinetics and amplitude) to respond to stimuli.

Conditions

• Genetic Diseases
• Immune Dysfunction
• Neurological Disease
• Autoimmune Diseases

Interventions

Type	Name	Description
OTHER	Biological Samples	For patients, different types of banked frozen or fresh biological samples will be used in this research: * Blood * Skin biopsy or other tissues (liver, muscle, brain, lung...) * Urine * Saliva * Cerebrospinal fluid * Occasionally: operative "leftovers" (e.g. muscle, brain, lung tissue) In control patients, we would like to collect operative remnants of cell types involved in the inflammatory and/or neurological diseases studied in the laboratory, if these patients require surgery as part of their management, and if any biological material remains after surgery. Under the same conditions, a sample of cerebrospinal fluid could be recovered. For unaffected relatives, a single blood sample of maximum 10 ml is taken at inclusion, and samples already taken during routine care are used.

Timeline

• Start date: 2015-12-28
• Primary completion: 2030-12-27
• Completion: 2035-12-27
• First posted: 2024-02-01
• Last updated: 2025-12-19

Locations

1 site across 1 country: France