A study published in the Journal of Community Genetics explores the use of telemedicine to enhance clinical trials for rare genetic diseases, addressing challenges such as low patient prevalence and geographic dispersion. The research highlights preliminary findings on telemedicine's effectiveness for managing hepatic glycogen storage disease and mucopolysaccharidosis VI.
Journal of Community Genetics - Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients,... Hoogeveen IJ, Peeks F, de Boer F, Lubout CMA, de Koning TJ, Te Boekhorst S, Zandvoort RJ, Burghard R, van Spronsen FJ, Derks TGJ (2018) A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring. J Inherit Metab Dis 41(6):929–936. https://doi.org/10.1007/s10545-018-0167-2 ... İnci A, Okur İ, Tümer L, Biberoğlu G, Öktem M, Ezgü F (2021) Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series. Orphanet J Rare Dis 16(1):438. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ... Crimi, M., Bianca, S. Transforming clinical trials in rare genetic diseases through telemedicine. Future directions include rigorously evaluating clinical outcomes of telemedicine, developing user-friendly and validated technologies, harmonizing international policies, investing in digital literacy, and fostering coordinated collective intelligence networks to maximize patient knowledge capital and accelerate therapeutic development. This is a preview of subscription content, log in via an institution to check access. ... Price excludes VAT (USA) Tax calculation will be finalised during checkout. Instant access to the full article PDF. ... No datasets were generated or analysed during the current study. Antoniadou V, Hadjipanayis A (2023) Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus. Davies EH, Johnston J, Toro C, Tifft CJ (2020) A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). Orphanet J Rare Dis 15:199 ... Dunkel A, von Storch K, Hochheim M, Zank S, Polidori MC, Woopen C (2025) Long-term effects of transtheoretical model-based lifestyle intervention on self-efficacy and self-management in patients with type 2 diabetes – randomised controlled trial.
Original title: “Transforming clinical trials in rare genetic diseases through telemedicine | Journal of Community Genetics | Springer Nature Link”