Prospective Natural History of Visual Loss in USH1C
Research type
Research Study
Full title
Prospective Natural History of Visual Loss in USH1C: a Multicentre Study
IRAS ID
334856
Contact name
Michel Michaelides
Contact email
Sponsor organisation
Louisiana State University Health Sciences Center New Orleans
Duration of Study in the UK
2 years, 8 months, 31 days
Research summary
Usher syndrome (USH) is the most common genetic cause of combined deafness and blindness and is estimated to affect ~ 1 in 20,000 individuals worldwide. Although it is rare, it occurs more frequently in some close-knit communities. There are four clinical types (USH1-4) and 10 genes (subtypes) associated with the disease. The diagnosis of USH and its type are primarily established on the severity and age of onset of the symptoms with genetic testing used to confirm the diagnosis. The natural clinical history (when symptoms begin and how quickly they progress) are not known. USH1, the most severe form, is characterized by severe to profound sensorineural hearing impairment with vestibular areflexia at birth, and adolescent onset of retinitis pigmentosa (RP). The symptoms of RP in USH patients typically begin with night blindness and sensitivity to bright light, followed by the loss of peripheral vision that progresses to central vision loss. Mutations in the USH1C gene account for 6-15% of all USH1 cases; however, it accounts for nearly all USH1 cases in the Acadian populations of Louisiana (USA) and Canada due to a founder mutation. The primary objective of this study is to observe the natural clinical history of visual loss in Usher syndrome type 1C (USH1C) patients. Additionally, we hope to identify clinical tests that could help guide a future clinical trial for patients with USH1C.
REC name
Wales REC 7
REC reference
24/WA/0097
Date of REC Opinion
16 May 2024
REC opinion
Further Information Favourable Opinion