Scientists seek clues to devastating rare diseases

NCT ID NCT06235580

Summary

This study aims to better understand a group of rare, severe genetic diseases that disrupt the immune system and brain, often leading to poor quality of life and high mortality. Researchers will study 1000 participants, including patients, their family members, and healthy controls, to define the diseases, find the responsible genes, and learn how they cause illness. The goal is to build knowledge that could lead to better diagnostic tests and future treatments.

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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.