Identifying genetic causes of developmental diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify the molecular and pathophysiological bases of developmental anomalies, which encompass over 3000 different conditions. By utilizing next-generation sequencing and analyzing blood samples from patients, the study seeks to uncover genetic factors that contribute to these disorders. Despite advancements in genetic research, many individuals with severe developmental anomalies remain undiagnosed, highlighting the need for this investigation. The findings could enhance genetic counseling for affected families and improve understanding of these complex conditions.

Why it matters

Who can join: the full rules

Inclusion Criteria:

-Patients (children or adults) with a suspected rare disease (or rare form of a common disease) of genetic origin for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.

OR

-Foetuses with developmental abnormalities for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.

OR

* Apparently healthy relatives or controls AND
* Consent of the patient or his/her legal representative
* Suitable level of understanding

Exclusion Criteria:

* Patients without national health insurance cover

Where it's running

• Chu Dijon Bourogne
  Dijon, France Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.