Status:
COMPLETED
Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Development Disorders
Eligibility:
All Genders
Phase:
NA
Brief Summary
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), bu...
Eligibility Criteria
Inclusion
- Adults or parents of of deceased foetuses/children (alive or deceased) or adults living under guardianship or deceased, with Development Disorders(DD) who will undergo WES for the first time for diagnostic purposes
- Consent to take part in the study
- Desire to screen for at least one group of IF
- Able to speak fluent French.
Exclusion
- Patients withough national health insurance cover
- Absence of consent from the patient or his/her legal representative
Key Trial Info
Start Date :
November 13 2017
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
November 24 2021
Estimated Enrollment :
342 Patients enrolled
Trial Details
Trial ID
NCT03288727
Start Date
November 13 2017
End Date
November 24 2021
Last Update
September 14 2022
Active Locations (3)
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1
CHU Dijon Bourgogne
Dijon, France, 21079
2
Hospices Civils de Lyon
Lyon, France, 69000
3
Groupe Hospitalier Pitié-Salpêtrière
Paris, France, 75013