Assessing new methods for detecting chromosome abnormalities
Etude Prospective Comparative Des Performances de Détection Des Variations de Nombre et de Structure Des Chromosomes Par Les Techniques de Cartographie Moléculaire et de Séquençage de Grands Fragments
NA · Institut National de la Santé Et de la Recherche Médicale, France · NCT05290051
This study is testing new ways to find chromosome problems in people with infertility, intellectual disabilities, malformations, and miscarriages to see if they work better than the usual methods.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 400 (estimated) |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France (other gov) |
| Locations | 1 site (Paris) |
| Trial ID | NCT05290051 on ClinicalTrials.gov |
What this trial studies
This study evaluates the effectiveness of optical genome mapping and long read sequencing in identifying chromosome abnormalities compared to traditional methods like karyotyping and chromosomal microarrays. These new technologies aim to provide higher resolution analysis and improve diagnostic yields for patients with infertility, intellectual disabilities, malformations, and miscarriages. By comparing these innovative approaches to current gold standards, the study seeks to enhance the understanding and detection of chromosomal aberrations that contribute to developmental and reproductive disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals experiencing infertility or those with intellectual disabilities or malformations requiring chromosome analysis.
Not a fit: Patients with conditions related to perinatal suffering or those who do not meet the specific inclusion criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could significantly improve the diagnostic accuracy for patients with chromosomal abnormalities, leading to better management and treatment options.
How similar studies have performed: While traditional methods have limitations, the use of optical genome mapping and long read sequencing is a novel approach that has shown promise in preliminary studies but requires further validation.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
Paris
- Cochin APHP — Paris, France (RECRUITING)
Study contacts
- Study coordinator: Dr Laila EL KHATTABI
- Email: Laila.el-khattabi@aphp.fr
- Phone: 01 58 41 35 29
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.
Conditions: Infertility, Intellectual Disability, Malformation, Miscarriage