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Recruiting NCT06235580

NCT06235580 Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions

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Clinical Trial Summary
NCT ID NCT06235580
Status Recruiting
Phase
Sponsor Imagine Institute
Condition Genetic Diseases
Study Type OBSERVATIONAL
Enrollment 1,000 participants
Start Date 2015-12-28
Primary Completion 2030-12-27

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age N/A
Study Type OBSERVATIONAL
Interventions
Biological Samples

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 1,000 participants in total. It began in 2015-12-28 with a primary completion date of 2030-12-27.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief 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 Criteria

Inclusion criteria * 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. Non-inclusion criteria ✓ Be deprived of liberty

Contact & Investigator

Central Contact
Principal Investigator

Yanick Crow, MD PhD

PRINCIPAL INVESTIGATOR

Institut Imagine

Frequently Asked Questions

Who can join the NCT06235580 clinical trial?

This trial is open to participants of all sexes, studying Genetic Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT06235580 currently recruiting?

Yes, NCT06235580 is actively recruiting participants. Contact the research team at marie-louise.fremond@institutimagine.org for enrollment information.

Where is the NCT06235580 trial being conducted?

This trial is being conducted at Paris, France.

Who is sponsoring the NCT06235580 clinical trial?

NCT06235580 is sponsored by Imagine Institute. The principal investigator is Yanick Crow, MD PhD at Institut Imagine. The trial plans to enroll 1,000 participants.

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