New genetic detective work aims to end years of uncertainty for patients with developmental disorders

NCT ID NCT05448326

First seen Jan 05, 2026 · Last updated May 12, 2026 · Updated 25 times

Summary

This study aims to reduce the long and frustrating search for a diagnosis in people with developmental abnormalities. Researchers will look back at past cases and also offer new, advanced genetic tests (like whole genome sequencing) to find the cause. The goal is to give patients and their families clear answers and end the diagnostic dead-end.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Chu Dijon Bourogne

    RECRUITING

    Dijon, 21000, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.