{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T04:30:41Z","timestamp":1788582641438,"version":"build-2803163510"},"reference-count":173,"publisher":"JMIR Publications Inc.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Internet Res"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Rare diseases affect more than 300 million people globally, and only about 5% have approved therapies. Lysosomal storage disorders (LSDs) exemplify the diagnostic and long-term care complexity typical of rare diseases, and digital health technologies (DHTs), especially artificial intelligence (AI) and connected care (CC), are emerging tools to support LSD management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We aimed to map and synthesize peer-reviewed and gray literature from the past decade on DHTs relevant for LSD care, with a primary analytic focus on AI-enabled and CC solutions and a contextual mapping of other enabling DHTs. Evidence distribution was charted by population, care-journey phase, and outcome domains to identify gaps, methodological limitations, and timely priorities relevant for research, clinical practice implementation, and policies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a scoping review guided by a population, concept, context framework and operationalized through a Population, Intervention, Comparison, and Outcome (PICO)-informed data-charting structure to map study characteristics and reported outcomes, without causal or effectiveness assumptions and without risk-of-bias assessment. We searched PubMed, Google Scholar, and ClinicalTrials.gov for studies published between October 2015 and September 2024, complemented by AI-assisted discovery tools for citation extension. Reproducibility logs (search strings, run dates, filters, and stepwise counts) were maintained. Of 1751 records retrieved, 245 were included. Evidence was charted by LSD population, intervention class (AI, CC, and other enabling DHTs), outcome domains (patient, health care, and societal), and phase of the care journey.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 245 included records, 92.2% (226\/245) were peer-reviewed, and 7.8% (19\/245) were gray literature; no completed and published randomized controlled trials or LSD-specific systematic reviews were identified, with evidence dominated by small, single-center observational studies. Overall, 40 peer-reviewed records reported AI-driven DHTs, 89 reported CC DHTs, and 144 reported other enabling DHTs (some multilabeled). Evidence was concentrated mostly in Gaucher and Fabry diseases. Nearly half of the mapped literature focused on screening and diagnosis, with fewer records addressing treatment intensification, rehabilitation, and end-of-life care. Outcomes were predominantly health care delivery performance measures, with fewer patient and societal outcomes. AI applications mainly supported diagnostic decision support, phenotyping, monitoring, tracking, and risk stratification; CC commonly involved telemedicine, remote monitoring, and patient-engagement platforms; enabling DHTs included interoperable data systems, registries, and digital infrastructures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The evidence base is appreciable for a niche field and reflects growing interest in AI and CC for LSD care, but heterogeneity and methodological limitations preclude inferences on effectiveness or routine implementation. This evidence map highlights relatively stronger areas and gaps, providing a structured foundation to inform timely expert consensus-building and research prioritization. Key priorities include interoperable data infrastructures and data availability, prospective multicenter evaluations, transparent reporting of algorithms and workflows, and implementation-relevant outcomes to support safe, equitable, and scalable adoption aligned with evolving European Union and global rare-disease priorities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2196\/73612","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T15:55:07Z","timestamp":1770652507000},"page":"e73612","source":"Crossref","is-referenced-by-count":2,"title":["Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review"],"prefix":"10.2196","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0940-5998","authenticated-orcid":false,"given":"Alberta MC","family":"Spreafico","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2100-3749","authenticated-orcid":false,"given":"Luca","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9356-6531","authenticated-orcid":false,"given":"Kim","family":"Angel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1676-2602","authenticated-orcid":false,"given":"Cinzia Maria","family":"Bellettato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0382-3251","authenticated-orcid":false,"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1010","published-online":{"date-parts":[[2026,4,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph20064732"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0508-0"},{"key":"ref3","unstructured":"Rare diseasesEuropean Commission20242026-01-01https:\/\/health.ec.europa.eu\/rare-diseases-and-european-reference-networks\/rare-diseases_en"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3233\/trd-190047"},{"key":"ref5","unstructured":"Addressing the challenges of persons living with a rare disease and their families : revised draft resolution \/ Brazil, Central African Republic, C\u00f4te d'Ivoire, Cyprus, Ecuador, Equatorial Guinea, France, Italy, Peru, Portugal, Qatar, South Africa, Spain, Ukraine and VanuatuUnited Nations Digital Library20212026-01-01https:\/\/digitallibrary.un.org\/record\/3947524"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1182-6"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13113325"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41746-025-01820-x"},{"key":"ref9","unstructured":"Regulation (EU) 2024\/1689 of the European Parliament and of the Council of 13 June 2024 laying down harmonised rules on artificial intelligence and amending Regulations (EC) No 300\/2008, (EU) No 167\/2013, (EU) No 168\/2013, (EU) 2018\/858, (EU) 2018\/1139 and (EU) 2019\/2144 and Directives 2014\/90\/EU, (EU) 2016\/797 and (EU) 2020\/1828 (Artificial Intelligence Act)European Union EUR-Lex20242026-01-01https:\/\/eur-lex.europa.eu\/eli\/reg\/2024\/1689\/oj"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.7326\/m18-0850"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1080\/1364557032000119616"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2009.12.008"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3390\/ijns4030024"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61911"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.20538\/1682-0363-2022-2-67-73"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1089\/tmj.2020.0381"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2009.171827"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1177\/26330040211038564"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3390\/biology13010034"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2021.100788"},{"key":"ref22","unstructured":"Nuovo Monitor 47: Telemedicina e Intelligenza Artificiale a Supporto Dell\u2019assistenza Territoriale. 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