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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Jacqueline
Parkin
jacqueline.parkin2@nhs.net
Mr
Stephen
Tuft
stephen.tuft@moorfields.nhs.uk
Congenital malformations of eye, ear, face and neck
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Corneal dystrophies are characterised by bilateral progressive corneal opacification causing visual impairment and blindness, which may require corneal transplantation for visual rehabilitation. They are genetically and clinically heterogeneous, with the most common inherited cause being autosomal dominant mutations in a gene called TGFBI. The genetic cause of several dominant corneal dystrophies, however, has not been determined. We have an extensive register of patients who have been recorded as affected by corneal dystrophy, but as yet less than 5% have a molecular diagnosis for their condition. In this research we plan to clinically examine affected patients to determine the features of their corneal change (the phenotype) and examine available relatives to confirm the pattern of inheritance of disease. We then plan to identify the spectrum of gene mutations in our cohort (the genotype) using DNA extracted from a venous blood sample. In selected patients that have undergone corneal transplantation we will use a portion of the excised corneal tissue to isolate fibroblasts to test in vitro a specific gene silencing therapeutic approach for the treatment of dominant mutations. The study will include patients with dominant congenital hereditary endothelial dystrophy, dominant Fuchs endothelial dystrophy, and granular and lattice dystrophies. This work will guide future development of specific mutation targeted gene-silencing therapies for this patient group. We will establish a bank of corneal fibroblast cell lines derived from individuals with a known phenotype and genotype. Optimised mutation-specific small interfering RNAs (siRNAs) will be manufactured and tested in vitro for allele-specific knockdown of each mutation. These studies will set the scene for the pre-clinical development of gene-specific therapies for patients with dominant corneal dystrophy.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Clinical Laboratory Study;
You can take part if:
You may not be able to take part if:
1. Unable to provide informed consent 2. The presence of other inherited eye pathology
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by MOORFIELDS EYE HOSPITAL NHS FOUNDATION TRUST and funded by BRITISH EYE RESEARCH FOUNDATION .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 15147
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