Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorImagine Institute
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Have / present a family history of genetic disease with immune and neurological dysfunction.
Have signed an informed consent form.
Be related to a patient included in this research.
Have signed an informed consent form.
Disqualifiers
None
Trial population
Patients will be included by any hospital department involved in the management of these pathologies in France.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Biological Samples
Other interventionFor 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.
Treatment groups
1,000 Participants
are divided into 3 treatment groupsGroup A: Patients1 intervention
Group B: Controls1 intervention
Group C: Unaffected related subjects1 intervention
Trial outcomes
Primary outcomes
1
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 year2
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 year3
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 yearSponsors and contacts
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Source ClinicalTrials.gov