Major study aims to unravel rare genetic diseases affecting immunity and the brain

NCT ID NCT06235580

First seen Jan 11, 2026 · Last updated May 15, 2026 · Updated 15 times

Summary

This study aims to better understand rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy controls. The goal is to describe the clinical features, natural history, and underlying causes of these conditions. No experimental treatment is offered; this is an observational study to advance knowledge.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • Necker enfants malades Hospital

    RECRUITING

    Paris, Île-de-France Region, 75015, France

    Contact Email: •••••@•••••

    Contact Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.