Condition: Neurodevelopmental Disorders and Developmental Abnormalities · Sponsor: University Hospital, Angers
Three million persons in France are impacted by rare diseases. Amid the 7000 different diseases which are identified today, neurodevelopmental disorders are the main symptoms found interesting 35 000 birth every years, according to the French Health Authority. In half of these cases, patients are under 5 years old and a molecular diagnosis is only available in 50% of them, associated with a diagnostic wandering exceeding 5 years for 25% of every patients. High throughput DNA sequencing technologies are powerful tools to elucidate new causative variants. Although the diagnostic yield was refined by DNA-seq, data interpretation and technology limits remain the two major obstacles which still need be overcame. Missing a molecular diagnosis through a genomic approach alone highlight the need to integrate multi-omic approaches such as Ribonucleic Acid sequencing. This sequencing level allows new insight such like the evidence of aberrant gene expression, mono allelic allele expression, or abnormal alternative splicing. It makes possible too, to detect variants which are unable to be found via genome sequencing only. Recently, a diagnostic performance improvement has been described trough the association of the two technics, i.e. Ribonucleic Acid-seq and genome sequencing, in a context of neuromuscular diseases. However, only few studies were carry out on neurodevelopmental disorders in addition with malformative features. Angers's team demonstrated by the end of 2022, a diagnost…
This description comes directly from the study's public registry record.
Estelle COLIN, MD, PhD · 02 41 35 36 37 · estelle.colin@chu-angers.fr
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| University Hospital of Angers | Angers, France | Recruiting |
| University Hospital of Brest | Brest, France | Recruiting |
| Le Mans Hospital Center | Le Mans, France | Recruiting |
| University Hospital of Nantes | Nantes, France | Not Yet Recruiting |
| University Hospital of Rennes | Rennes, France | Recruiting |
| University Hospital of Tours | Tours, France | Not Yet Recruiting |
| Vannes Hospital Center | Vannes, France | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT06762678