MedTrace Logo

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

NCT06235580 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2025-12-19

No results posted yet for this study

Summary

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.

Conditions

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.

Sponsors & Collaborators

  • Imagine Institute

    lead OTHER

Principal Investigators

  • Yanick Crow, MD PhD · Institut Imagine

  • Marie-Louise Frémond, MD, Pr · Institut Imagine

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-12-28
Primary Completion
2030-12-27
Completion
2035-12-27

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06235580 on ClinicalTrials.gov