Gene sequencing breakthrough could unlock hidden causes of intellectual disability

NCT ID NCT04154891

First seen Oct 31, 2025 · Last updated May 16, 2026 · Updated 28 times

Summary

This study tested whether whole genome sequencing (WGS) can find more genetic causes of intellectual disability than current standard tests. Researchers compared WGS to usual methods in 3825 children and adults with unexplained intellectual disability. The goal was to see if WGS gives a diagnosis to more patients, potentially reducing the number of people without answers.

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Contacts and locations

Locations

  • Assistance publique - Hôpitaux de Marseille

    Marseille, France

  • Assistance publique - Hôpitaux de Paris - Groupe Hospitalier Pitié Salpétrière

    Paris, France

  • Assistance publique - Hôpitaux de Paris - Hôpital Necker - Enfants malades

    Paris, France

  • CHRU Lille

    Lille, France

  • CHU Bordeaux

    Bordeaux, France

  • CHU Dijon

    Dijon, France

  • CHU Montpellier

    Montpellier, France

  • CHU Nantes

    Nantes, France

  • CHU Rennes

    Rennes, France

  • CHU Rouen

    Rouen, France

  • CHU Strasbourg

    Strasbourg, France

  • CHU d'Angers

    Angers, 49000, France

  • CHU de Grenoble-Alpes

    La Tronche, 38700, France

  • Hospices Civil de Lyon

    Bron, France

Conditions

Explore the condition pages connected to this study.