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Article

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Human molecular genetics - 21 Jul 2020

Toms Maria, Dubis Adam M, de Vrieze Erik, Tracey-White Dhani, Mitsios Andreas, Hayes Matthew, Broekman Sanne, Baxendale Sarah, Utoomprurkporn Nattawan, Bamiou Doris, Bitner-Glindzicz Maria, Webster Andrew R, Van Wijk Erwin, Moosajee Mariya

Abstract excerpt

USH2A variants are the most common cause of Usher syndrome type 2, characterized by congenital sensorineural hearing loss and retinitis pigmentosa (RP), and also contribute to autosomal recessive non-syndromic RP. Several treatment strategies are under development; however, sensitive clinical trial endpoint metrics to determine therapeutic efficacy have not been identified. In the present study, we have performed...

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Identifiers

PMID: 31998945
DOI: 10.1093/hmg/ddaa004
PMCID: PMC7372554

Genes

USH2A

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