Status:
RECRUITING
Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Collaborating Sponsors:
CHU Rennes - Hopital Pontchaillou
APHP
Conditions:
Infertility
Intellectual Disability
Eligibility:
All Genders
Phase:
NA
Brief Summary
Chromosomal aberrations are major causes of developmental disorders (Intellectual disability (ID), multiple congenital anomalies (MCA), autism spectrum disorders (ASD)) as well as reproductive disorde...
Detailed Description
Chromosome aberrations are found in up to 1% of the general population. Structural aberrations, either balanced (3.6‰) or unbalanced (0.9‰), represent a third of them. Most (but not all) unbalanced an...
Eligibility Criteria
Inclusion
- patient requiring chromosome analysis either in case of infertility or in case of Intellectual deficiency/malformation
- \-
Exclusion
- no exclusion criteria but we defined Non-inclusion criteria
- ID in a context of perinatal suffering (e.g. hypoxia during labor)
- Children born to non-native French-speaking parents in case of speech/language retardation
- Obstructive azoospermia
- Children under 5kg or whenever blood sampling cannot meet the required volume.
- Missing or wrong blood collection tube
- Insufficient blood volume
- Missing or incomplete consent to research (e.g. only one parental consent for a child)
Key Trial Info
Start Date :
September 26 2022
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
June 26 2026
Estimated Enrollment :
400 Patients enrolled
Trial Details
Trial ID
NCT05290051
Start Date
September 26 2022
End Date
June 26 2026
Last Update
December 16 2024
Active Locations (1)
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1
Cochin APHP
Paris, France, 75014