Dataset Information

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.

ABSTRACT:

Introduction

Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrophy (predominantly Leber congenital amaurosis). Previous studies have shown that individuals who might participate in gene therapy trials overestimate clinical effect and underestimate risks. However, little is known about the perspectives of patients who may be offered approved gene therapy treatment for ocular conditions (as distinct from participating in clinical trials of gene therapy). The main objective of this study is to develop a tool to assess knowledge, attitudes and perceptions of approved and future genetic therapies among potential recipients of ocular gene therapy. In addition, we aim to assess the quality of life, attitudes towards clinical trials and vision-related quality of life among this cohort.

Methods and analysis

A new 'Attitudes to Gene Therapy for the Eye' tool will be developed following consultation with people with inherited retinal disease (IRD) and content matter experts. Australians with IRD or their guardians will be asked to complete an internet-based survey comprising existing quality of life and visual function instruments and items for the newly proposed tool. We expect to recruit 500 survey participants from patient support groups, the practices of Australian ophthalmologists who are specialists in IRD and Australian ophthalmic research institutions. Launch is anticipated early 2021. Responses will be analysed using item response theory methodology.

Ethics and dissemination

This study has received ethics approval from the University of Melbourne (#2057534). The results of the study will be published in a peer-reviewed journal and will be presented at relevant conferences. Organisations involved in recruitment, and the Patient Engagement Advisory committee will assist the research team with dissemination of the study outcomes.

SUBMITTER: Mack HG

PROVIDER: S-EPMC8220456 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:BACKGROUND:Limited research to date has defined the nature and extent of foot involvement in a psoriatic arthritis-specific population in Australia and the scale of the problem remains unclear. Survey research provides the ideal opportunity to sample a large population over a wide geographical area. Although quality criteria for survey research have been developed, research shows that adherence is low and that survey studies are poorly reported in peer-reviewed survey articles, which limits the ability to inform future survey design. The objective of this paper was to develop a national survey about foot involvement in people with psoriatic arthritis using a best practice approach. This is a methods paper for the development of survey research. METHODS:A systematic, multi-stage process of survey development was undertaken, which comprised 3 phases: 1) the generation of the conceptual framework and survey content; 2) the development of the survey and pre-testing and 3) development of the survey dissemination strategy. A survey best practice approach was adopted using iterative pre-testing techniques, which included; cognitive debriefing, cultural sensitivity review, survey design expert validation, subject expert validation and pilot testing. Targeted postal and online survey dissemination strategies were developed a priori to optimise the response rates anticipated. RESULTS:A 59-item survey with 8 sections was developed. Findings demonstrated a high survey response (n =?649), high data completeness (83% of respondents reached the end of the survey) and low rates of missing data (below 5% for 95% of respondents). Extensive survey pre-testing among the target population, health professionals and experts improved the overall quality, content validity, functioning and representativeness of the survey instrument, which optimised potential response rates. Clear audit trails that mapped the analytical process at each stage substantiated the rigour of the survey development methods. Robust strategies for sampling, survey dissemination and community engagement were deemed to have made a powerful contribution to response rates and the scale of information collected. CONCLUSIONS:Robust patient-centred methods in survey design were used to create a novel, high-quality survey to comprehensively evaluate psoriatic arthritis-related foot involvement. Transparent and precise description of the survey design and dissemination methods provides useful information to other researchers embarking on survey design in healthcare.

Project description:Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. There are more than 300 disease entities, and together this group of disorders affects millions of people globally and is a frequent cause of blindness or low-vision certification. However, each type is rare or ultra-rare. Characteristically, the impaired vision in IRDs is due to retinal photoreceptor dysfunction and loss resulting from mutation in a gene that codes for a retinal protein. Historically, IRDs have been considered incurable and individuals living with these blinding conditions could be offered only supportive care. However, the treatment landscape for IRDs is beginning to evolve. Progress is being made, driven by improvements in understanding of genotype-phenotype relationships, through advances in molecular genetic testing and retinal imaging. Alongside this expanding knowledge of IRDs, the current era of precision medicine is fueling a growth in targeted therapies. This has resulted in the first treatment for an IRD being approved. Several other therapies are currently in development in the IRD space, including RNA-based therapies, gene-based therapies (such as augmentation therapy and gene editing), cell therapy, visual prosthetics, and optogenetics. RNA-based therapies are a novel approach within precision medicine that have demonstrated success, particularly in rare diseases. Three antisense oligonucleotides (AONs) are currently in development for the treatment of specific IRD subtypes. These RNA-based therapies bring several key advantages in the setting of IRDs, and the potential to bring meaningful vision benefit to individuals living with inherited blinding disorders. This review will examine the increasing breadth and relevance of RNA-based therapies in clinical medicine, explore the key features that make AONs suitable for treating genetic eye diseases, and provide an overview of the three-leading investigational AONs in clinical trials.