Actively Recruiting
Prospective Study to Assess Performance of Optical Genome Mapping and Long Read Sequencing Compared to Standard Chromosome Analysis Methods
Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2024-12-16
400
Participants Needed
1
Research Sites
65 weeks
Total Duration
On this page
Sponsors
I
Institut National de la Santé Et de la Recherche Médicale, France
Lead Sponsor
C
CHU Rennes - Hopital Pontchaillou
Collaborating Sponsor
AI-Summary
What this Trial Is About
Chromosomal abnormalities can cause developmental disorders such as intellectual disability, multiple congenital anomalies, autism spectrum disorders, as well as reproductive disorders including gametogenesis defects and recurrent miscarriages. This research aims to compare new technologies, optical genome mapping and long read whole genome sequencing, with current standard genetic tests like karyotyping and chromosomal microarrays, to improve diagnosis rates in patients with these conditions. The study involves a prospective, national, multicenter cohort design involving 14 certified cytogenetic centers in France. Participants will have their DNA analyzed using standard methods (karyotyping or chromosomal microarrays depending on the clinical reason) alongside the new methods: optical genome mapping (Bionano®) and long read sequencing (Nanopore®). Optical genome mapping uses imaging of long DNA molecules to detect structural rearrangements with high resolution, while long read sequencing analyzes long DNA fragments to detect various mutations. Both new techniques are being evaluated for their ability to replace or complement existing tests in identifying chromosomal abnormalities. During the study, patients will undergo genome-wide analyses with all methods, and researchers will compare detection rates of clinically significant chromosome abnormalities. They will also assess the types and incidence of abnormalities found, any missed by the new methods, and the impact on patient care and cost-effectiveness. The primary outcome is the percentage of chromosomal aberrations detected by the new methods compared to standard tests. Assessments and results will be collected over about one year for each participant.
CONDITIONS
Brief Title
Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient requiring chromosome analysis due to infertility or intellectual disability/malformation
You will not qualify if you...
- Intellectual disability linked to perinatal suffering such as hypoxia during labor
- Children born to non-native French-speaking parents if speech or language delay is present
- Obstructive azoospermia
- Children under 5kg or if adequate blood sample volume cannot be obtained
- Missing or incorrect blood collection tube
- Insufficient blood volume for testing
- Missing or incomplete consent for research participation (e.g., only one parental consent for a child)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 1 year
Participants undergo genome-wide analysis using standard chromosome analysis methods alongside Optical Genome Mapping and long read sequencing to detect chromosome abnormalities.
1 visit for sample collection
Duration - Up to 1 year
Participants are observed for up to 1 year to assess the diagnosis rate, incidence, and impact of detected chromosomal aberrations on medical care.
Follow-up visits as needed depending on results
Trial Site Locations
Total: 1 location
1
Cochin APHP
Paris, France, 75014
Actively Recruiting
Research Team
D
Dr Laila EL KHATTABI
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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