New study tackles diagnostic maze for rare developmental disorders

NCT ID NCT05448326

Recruiting now Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain undiagnosed and find ways to change that.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this could help doctors diagnose rare developmental conditions faster and more accurately, reducing years of uncertainty for patients and families.
What could go wrong: This is an observational study, not a treatment trial. It may not lead to immediate benefits for participants, and new genetic findings may still be inconclusive.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for CHARGE SYNDROME are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

CHARGE syndrome Cornelia de Lange syndrome Kabuki syndrome Noonan syndrome Rubinstein-Taybi syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

DEVELOPMENTAL ABNORMALITY

Contacts and locations

Locations

Chu Dijon Bourogne
RECRUITING

Dijon, 21000, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.