Actively Recruiting
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
Led by Imagine Institute · Updated on 2025-12-19
1000
Participants Needed
1
Research Sites
260 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying rare genetic diseases that affect the immune and neurological systems. These diseases significantly impact patients' quality of life and often have a high mortality rate. The research focuses on understanding the clinical features, genetic causes, and molecular mechanisms behind these diseases, including Aicardi-Goutières Syndrome and related conditions with immune and neurological dysfunctions. The study collects various biological samples from participants, including blood, skin biopsies, urine, saliva, cerebrospinal fluid, and occasionally leftover tissues from surgery. Participants include patients with these genetic diseases, unaffected relatives, and control patients undergoing surgery without these genetic conditions. Sample collection varies by participant group and the clinical care they receive. Participants will be involved in clinical assessments and biological sample collection to help define disease characteristics and natural history. Researchers will analyze the molecular and cellular basis of these genetic conditions. The study measures clinical features and disease progression over an average of one year. Participation involves providing informed consent and may include follow-up visits as part of ongoing research.
CONDITIONS
Brief Title
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with a family history of genetic disease involving immune and neurological dysfunction
- Patients who have signed an informed consent form
- Unaffected relatives of patients included in the study
- Unaffected relatives who have signed an informed consent form
- Control patients free of genetic diseases with immune and neurological dysfunction
- Control patients who have undergone surgery as part of their care
- Control patients who have signed an informed consent form
You will not qualify if you...
- Individuals deprived of liberty
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - At inclusion
Participants provide biological samples such as blood, skin biopsy, urine, saliva, cerebrospinal fluid, and occasionally operative tissue remnants for research purposes.
1 baseline visit (in-person) for sample collection
Duration - Up to 1 year or through study completion
Participants are observed to study clinical features, natural history, and molecular and cellular basis of genetic diseases affecting immune and neurological systems over time.
Follow-up visits as needed over approximately 1 year
Trial Site Locations
Total: 1 location
1
Necker enfants malades Hospital
Paris, Île-de-France Region, France, 75015
Actively Recruiting
Research Team
Y
Yanick Crow, MD PhD
M
Marie-Louise Frémond, MD PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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