Identifying genetic causes of developmental diseases
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
This study is trying to find the genetic causes of over 3000 developmental disorders by looking at blood samples from patients to help families understand these conditions better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 850 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire Dijon Academic / other |
| Locations | 1 site (Dijon) |
| Trial ID | NCT03287193 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include fetuses, children, and adults with unexplained developmental anomalies.
Not a fit: Patients without national health insurance coverage may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better genetic diagnoses and counseling for patients with developmental anomalies.
How similar studies have performed: Other studies utilizing next-generation sequencing have shown promise in identifying genetic causes of rare diseases, suggesting a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Dijon
- Chu Dijon Bourogne — Dijon, France (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.