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New and emerging health technologies for inherited retinal diseases

12 June 2014

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This review sought to identify new and emerging health technologies that aim to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases.

Inherited retinal diseases are now the most common cause of blindness certification in England and Wales in working age adults and the second commonest in childhood. Currently, there is no cure or specific treatment. Management of these conditions revolves around early diagnosis, specialised genetic counselling, treatment of accompanying genetic conditions as well as visual rehabilitation, support and training (e.g. to use visual aids).

Searching of technology databases, bibliographic databases, clinical trial registries and other online sources was combined with company contacting and consultation with clinical experts, to identify relevant new and emerging health technologies.
Clinical experts and two patient focus groups (facilitated by the charity Fight for Sight) were asked to review the identified technologies and provide comment on innovation, potential for future impact (on patient outcomes, NHS systems and resources), current use, and any potential barriers to adoption. The patient focus groups provided valuable insights into the technologies presented from potential users perspective.

In total, forty new and emerging technologies were identified and included in the report: nine gene therapies; ten medical technologies; five pharmacological technologies; five regenerative and cell therapies; eleven very early developments (typically phase I or pre-clinical development stages). The vast majority of these technologies are subject to ongoing or anticipated clinical trials; very few treatments are already available in clinical practice to a limited number of patients.
Clinical expert and patient opinion indicates that the technologies likely to have the most impact in the future are gene therapies and regenerative and cell therapies. Some technologies are more applicable to earlier stages of disease such as gene therapy, while others are more applicable to advanced stages such as artificial vision and stem cell therapy. According to clinical experts, these treatments are not mutually exclusive and may be complementary, potentially used either together or sequentially.
Clinical experts commented that although this is time of great innovation for developing potential treatments for inherited retinal diseases, most of the health technologies identified in this review are still at an early stage of development. Further well designed trials and data on efficacy, applicability, and costs of the technologies as well as the long term impacts for various conditions are required, before these can be considered for adoption into clinical practice.

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