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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
France
Necker enfants malades Hospital
RECRUITING
Paris
Contact Information
Primary
Yanick Crow, MD PhD
yasmine.ainouz@institutimagine.org
Backup
Marie-Louise Frémond, MD PhD
Time Frame
Start Date: 2014-12-01
Estimated Completion Date: 2031-01-01
Participants
Target number of participants: 600
Treatments
Patients
Controls
Unaffected related subjects
Related Therapeutic Areas
Sponsors
Leads: Imagine Institute

This content was sourced from clinicaltrials.gov