Autoimmune Diseases Clinical Trial
— IFNOfficial title:
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
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.
Status | Recruiting |
Enrollment | 600 |
Est. completion date | January 1, 2031 |
Est. primary completion date | January 1, 2031 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
France | Necker enfants malades Hospital | Paris | Ile De France |
Lead Sponsor | Collaborator |
---|---|
Imagine Institute |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Clinical features of human genetic diseases that affect the immune and neurological systems. | Clinical features of human genetic diseases that affect the immune and neurological systems. | through study completion, an average of 1 year | |
Primary | Natural history of human genetic diseases that affect the immune and neurological systems. | Natural history of human genetic diseases that affect the immune and neurological systems. | through study completion, an average of 1 year | |
Primary | Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems. | Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems. | through study completion, an average of 1 year |
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