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

RecruitingOBSERVATIONAL
Enrollment

600

Participants

Timeline

Start Date

December 1, 2014

Primary Completion Date

January 1, 2031

Study Completion Date

January 1, 2031

Conditions
Genetic DiseasesImmune DysfunctionNeurological DiseaseAutoimmune Diseases
Interventions
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."

Trial Locations (1)

75015

RECRUITING

Necker enfants malades Hospital, Paris

Sponsors

Lead Sponsor

All Listed Sponsors
lead

Imagine Institute

OTHER