NCT05290051 Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities
| NCT ID | NCT05290051 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France |
| Condition | Infertility |
| Study Type | INTERVENTIONAL |
| Enrollment | 400 participants |
| Start Date | 2022-09-26 |
| Primary Completion | 2025-03-26 |
Trial Parameters
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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 disorders (RD) in particular gametogenesis defects and recurrent miscarriages. Current first tier genetic investigations for chromosome analysis in clinical settings include karyotyping in case of RD (5 \~ 10% diagnosis rate) and chromosomal microarrays (CMA) in case of ID/MM (10 \~ 20% diagnosis rate). However, both assays show significant drawbacks, e.g. low resolution for karyotyping and inability to detect balanced structural rearrangement for CMA. Optical genome mapping and long read genome sequencing are emerging technologies that offer new opportunities to overcome these limitations and allow for a higher resolution chromosome analysis. This project aims at assessing the performance of optical mapping and long read whole genome sequencing compared to current gold standard cytogenetics methods in a prospective study. The investigator will evaluate their ability to become the all-in-one methodology for genomic analysis that could replace both karyotype and CMA and their added-value compared to these latter by uncovering new diagnoses.
Eligibility Criteria
Inclusion Criteria: patient requiring chromosome analysis either in case of infertility or in case of Intellectual deficiency/malformation \- Exclusion Criteria: 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)