Condition: Anomalies Chromosome · Sponsor: Assistance Publique - Hôpitaux de Paris
In neurodevelomental disorders, duplications are genomic variations that are difficult to interpret because their orientation cannot be defined by conventional techniques (ACPA and FISH). However, their orientation determines whether a gene disruption and potential loss of function can be validated or not. The same applies to complex chromosomal rearrangements that can involve duplications and deletions, the interpretation of which is made difficult by the limitations of conventional techniques. The Bionano technique is an optical cartography genomic method that will provide access to this information by specifying both balanced and unbalanced chromosomal anomalies, their genomic location, and orientation. Our study is a prospective and multicentric (N=4) study involving 35 patients with neurodevelopmental disorders (NDD) and carrying a chromosomal anomaly identified by chromosomal microarray analysis (ACPA). Depending on the genetic anomaly, patients will be divided into two groups: patients carrying duplications containing or interrupting a gene already implicated in neurodevelopmental disorders. Duplications may involve the X chromosome and be present in male patients. The other group will involve NDD patients with a more complex chromosomal rearrangement (combination of deletion and duplication, ring chromosome structure, combination of multiple genomic imbalances). The optical genomic mapping (OGM) technology developed by Bionano Genomics is an innovative whole-genome ex…
This description comes directly from the study's public registry record.
Anne-Claude TABET, MD, PhD · +331 40 03 57 10 · anne-claude.tabet@aphp.fr
Jonathan LEVY, MD · +331 40 03 57 10 · jonathan.levy@aphp.fr
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| Robert Debré Hospital | Paris, Paris, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07133789