Characterizing genetic diseases affecting the immune and neurological systems

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on understanding genetic diseases that impact the immune and neurological systems, particularly those that are rare and often under-diagnosed. Led by Prof. Yanick Crow, the research aims to clinically define the phenotypes of these diseases, identify the responsible genes, and explore how genetic changes lead to these conditions. The study also includes analyzing immune responses in unaffected relatives and control patients to enhance understanding of these complex disorders. The ultimate goal is to develop diagnostic tests and potential treatments that could significantly benefit affected patients.

Why it matters

Who can join: the full rules

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

Where it's running

• Necker enfants malades Hospital
  Paris, Île-de-France Region, France Recruiting

Study contacts

• Principal investigator: Yanick Crow, MD PhD — Institut Imagine
• Study coordinator: Yanick Crow, MD PhD
• Email: marie-louise.fremond@institutimagine.org

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.