儿科眼部疾病患者体细胞和基因治疗试验中的数字技术：一项范围综述方案

Digital Technology in Somatic and Gene Therapy Trials of Pediatric Patients With Ocular Diseases: Protocol for a Scoping Review.

作者信息

Meinert Edward, Alturkistani Abrar, Osama Tasnime, Halioua-Haubold Celine-Lea, Car Josip, Majeed Azeem, Wells Glenn, MacLaren Robert E, Brindley David

机构信息

Global Digital Health Unit, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.

Healthcare Translation Research Group, Department of Paediatrics, University of Oxford, Oxford, United Kingdom.

出版信息

JMIR Res Protoc. 2019 Feb 7;8(2):e10705. doi: 10.2196/10705.

DOI:10.2196/10705

PMID:30730295

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6383115/

Abstract

BACKGROUND

Pharmacogenomics suggests that diseases with similar symptomatic presentations often have varying genetic causes, affecting an individual patient's response to a specific therapeutic strategy. Gene therapies and somatic cell therapies offer unique therapeutic pathways for ocular diseases and often depend on increased understanding of the genotype-phenotype relationship in disease presentation and progression. While demand for personalized medicine is increasing and the required molecular tools are available, its adoption within pediatric ophthalmology remains to be maximized in the postgenomic era.

OBJECTIVE

The objective of our study was to address the individual hurdles encountered in the field of genomic-related clinical trials and facilitate the uptake of personalized medicine, we propose to conduct a review that will examine and identify the digital technologies used to facilitate data analysis in somatic and gene therapy trials in pediatric patients with ocular diseases.

METHODS

This paper aims to present an outline for Healthcare Information Technology and Information and Communication Technology resources used in somatic and gene therapy clinical trials in children with ocular diseases. This review will enable authors to identify challenges and provide recommendations, facilitating the uptake of genetic and somatic therapies as therapeutic tools in pediatric ophthalmology. The review will also determine whether conducting a systematic review will be beneficial.

RESULTS

Database searches will be initiated in September 2018. We expect to complete the review in December 2019.

CONCLUSIONS

Based on review findings, the authors will summarize methods used for facilitating IT integration in personalized medicine. Additionally, it will identify further research gaps and determine whether conducting further reviews will be beneficial.

INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/10705.

摘要

背景

药物基因组学表明，具有相似症状表现的疾病往往有不同的遗传病因，这会影响个体患者对特定治疗策略的反应。基因疗法和体细胞疗法为眼部疾病提供了独特的治疗途径，并且通常依赖于对疾病表现和进展中基因型-表型关系的深入理解。虽然对个性化医疗的需求在增加，所需的分子工具也已具备，但在后基因组时代，其在儿科眼科中的应用仍有待最大化。