An observational study in Genetic Diseases, Immune Dysfunction and Neurological Disease, sponsored by Imagine Institute. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2025-12-19.
Sponsored by Imagine Institute · Observational
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.
The research methodology is classic with regard to many genetic clinical studies, and aims to:
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.
403 studies on the registry are indexed under Genetic Diseases, Inborn; 145 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 192 across 195 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Imagine Institute is the lead sponsor of 30 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients will be included by any hospital department involved in the management of these pathologies in France.
Inclusion criteria
Patients :
Unaffected related subjects :
Control patients
Non-inclusion criteria
✓ Be deprived of liberty
Other: Biological Samples
Other: Biological Samples
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.
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.
Time frame: through study completion, an average of 1 year
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.
Time frame: through study completion, an average of 1 year
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.
Time frame: through study completion, an average of 1 year
Plan to share: No
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Imagine Institute