Dataset Information

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

ABSTRACT: AIMS: To characterise the disease in patients with mutations in RPE65. METHODS: Individuals from two families were studied clinically. RESULTS: 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygote individual from another family with L22P and H68Y mutations had few bone spicule pigment deposits and macular atrophy. CONCLUSION: Compound heterozygote individuals had severe rod-cone dystrophies featuring few pigment deposits in the fundus, pigment epithelium atrophy, and early involvement of the macula, with variations in severity leading to the diagnosis of Leber's congenital amaurosis or retinitis pigmentosa. Macular drusen in heterozygotes carrying a null allele may reflect the decreased capacity in the RPE65 function.

SUBMITTER: Hamel CP

PROVIDER: S-EPMC1723940 | biostudies-other | 2001 Apr

REPOSITORIES: biostudies-other

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Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

Hamel C P CP Griffoin J M JM Lasquellec L L Bazalgette C C Arnaud B B

The British journal of ophthalmology 20010401 4

<h4>Aims</h4>To characterise the disease in patients with mutations in RPE65.<h4>Methods</h4>Individuals from two families were studied clinically.<h4>Results</h4>13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygote individual from another family with L22P and H68Y mutations had few bone spicule pi ...[more]

PMID: 11264131

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Project description:INTRODUCTION:Voretigene neparvovec (VN) is a gene therapy and the first approved pharmacological treatment for biallelic RPE65-mediated inherited retinal dystrophies (IRD), a rare condition that starts in early life and causes vision to progressively deteriorate towards complete blindness. In a phase III trial, treatment with VN significantly improved functional vision and visual function, and in October 2019 the National Institute for Health and Care Excellence (NICE) Highly Specialised Technologies (HST) process recommended VN for patients in England and Wales. We assessed the cost-effectiveness of VN compared with best supportive care (BSC) in individuals with biallelic RPE65-mediated IRD in the UK. METHODS:A Markov model was developed to estimate the incremental cost per quality-adjusted life-year (QALY) gained for VN compared with BSC, from the perspective of the UK National Health Service and Personal Social Services. Phase III trial data were used to inform transition probabilities up to year 1, after which the treatment effect was assumed to be maintained for 40 years, followed by a decline in vision. A bespoke elicitation exercise involving clinical experts, patients and carers was conducted to estimate utility values for each model health state. RESULTS:At list price, VN is associated with incremental costs of £612,404 and incremental QALYs of 6.4, resulting in an incremental cost-effectiveness ratio (ICER) of £95,072 per QALY gained. Voretigene neparvovec is associated with a significant undiscounted QALY gain (20.5) and is therefore eligible for additional QALY weighting under the NICE HST process; an ICER of up to £205,000 per QALY gained could be considered cost-effective under this framework. CONCLUSION:The results of the model show VN to be a cost-effective use of healthcare resources in the UK at list price. The availability of a commercial discount in the UK (as considered in the NICE appraisal) means that in reality the ICER will be even lower. Plain language summary available for this article.

Dataset Information

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

Publications

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

Similar Datasets

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