Condition: Rare Genetic Disease · Sponsor: Assistance Publique Hopitaux De Marseille
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients. Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.
This description comes directly from the study's public registry record.
Svetlana GOROKHOVA, MD · 33491388499 · svetlana.gorokhova@ap-hm.fr
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| Assistance publique - hôpitaux de Marseille | Marseille, Provence-Alpes-Côt-d'Azue, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07075107