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

Recruiting now

Conditions studied: Genetic Diseases, Immune Dysfunction, Neurological Disease, Autoimmune Diseases

In brief

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.

Key facts

Study ID

NCT06235580

Run by

Imagine Institute

People needed

1000

Starts

2015-12-28

Expected to finish

2035-12-27

Last updated by the study team

2025-12-19

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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 it is running

• Necker enfants malades Hospital — Paris, Île-de-France Region, France (enrolling)

Full record on ClinicalTrials.gov

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