Condition: Rare Diseases · Genetic Disease · Sponsor: University Hospital, Angers
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.
This description comes directly from the study's public registry record.
Estelle COLIN, MD-PhD · 02.41.35.34.70 · escolin@chu-angers.fr
Clément PROUTEAU, MSc · clement.prouteau@chu-angers.fr
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| Centre Hospitalo-Universitaire d'Angers | Angers, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT05499091