{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:13:17Z","timestamp":1777882397079,"version":"3.51.4"},"reference-count":41,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"European Joint Programme on Rare Disease (EJP RD) under the European Union\u2019s Horizon 2020 Research and Innovation Programme","award":["Grant Agreement No. 825575"],"award-info":[{"award-number":["Grant Agreement No. 825575"]}]},{"name":"European Union\u2019s Horizon Europe Research and Innovation Programme, through the European Rare Diseases Research Alliance","award":["Grant Agreement No. 101156595"],"award-info":[{"award-number":["Grant Agreement No. 101156595"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>The International Rare Diseases Research Consortium (IRDiRC) Telehealth (TH) Task Force explored the use of TH for improving diagnosis, care, research, and education for rare diseases (RDs) worldwide. The Task Force members interviewed 23 key opinion leaders (KOLs), providing perspectives from experts in the use of TH for the diagnosis, treatment, and prevention of RDs (10 KOLs); for research and evaluation in RDs (7); and for the continuing education of health care providers (HCPs) in RDs (6). The KOLs represented a broad array of diverse perspectives with regard to both geographic regions, including Europe, United States, Sub-Saharan Africa, and Asia, and professional expertise, including rare disease patients and family members, RD association spokespersons, TH association representatives, physicians, researchers, and regulatory authorities. The Task Force solicited KOL opinions to identify factors that influence TH in improving access to diagnosis, care, prevention, and research experiences for RD patients and providers as well as continuing education and peer mentoring for HCPs. This manuscript represents a synthesis of those interviews and some common themes that emerged, along with identification of evidence and knowledge gaps that will benefit from future research efforts to help advance and expand the use of TH for RD care, research, and education. KOLs agreed on the unique elements of RD medical care that could benefit from TH approaches and recognized the increasing role that remote assessments can play in supporting RD research. They identified models for health care provider education afforded by TH that can enhance care for RD patients and broaden the pool of experts in these conditions. While recognizing that barriers to broad implementation exist, they agreed that TH provides a unique tool to provide greater access to care for RD patients worldwide.<\/jats:p>","DOI":"10.1177\/26330040261427023","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T01:38:57Z","timestamp":1773625137000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force"],"prefix":"10.1177","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6707-1004","authenticated-orcid":false,"given":"Melissa A.","family":"Parisi","sequence":"first","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 6710B Rockledge Dr., Bethesda, MD 20817, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam L.","family":"Hartman","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Catherine V.","family":"Letinturier","sequence":"additional","affiliation":[{"name":"IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena-Alexandra","family":"Tataru","sequence":"additional","affiliation":[{"name":"IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Antoniadou","sequence":"additional","affiliation":[{"name":"Cyprus Alliance for Rare Disorders, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[{"name":"Rare Care Centre, Perth Children\u2019s Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Bloom","sequence":"additional","affiliation":[{"name":"The Ehlers-Danlos Society, UK &amp; USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Crimi","sequence":"additional","affiliation":[{"name":"Kaleidos SCS, and Net Medicare SRL, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria G.","family":"Della Rocca","sequence":"additional","affiliation":[{"name":"Global Genes, Rockville, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Didato","sequence":"additional","affiliation":[{"name":"Epilepsy Unit, Sleep Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Douzgou Houge","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway"},{"name":"NevSom - Norwegian Centre of Expertise for Neurodevelopmental Disorders and Hypersomnias, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5883-7610","authenticated-orcid":false,"given":"Anneliene H.","family":"Jonker","sequence":"additional","affiliation":[{"name":"Health Technologies and Services Research, TechMed Centre, University of Twente, Twente, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Kawome","sequence":"additional","affiliation":[{"name":"Sally Mugabe Central Hospital, Zimbabwe"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8525-308X","authenticated-orcid":false,"given":"Friederike","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Child and Youth Psychiatry, Psychosomatics and Psychotherapy, Asklepios Hospital Luebben, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"International Prader Willi Syndrome Organisation (IPWSO), UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ratna","family":"Dua Puri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuala","family":"Ryan","sequence":"additional","affiliation":[{"name":"NCBRS (Nicolaides-Baraitser Syndrome) Worldwide Foundation, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meow-Keong","family":"Thong","sequence":"additional","affiliation":[{"name":"Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Malaysia and M. Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birut\u0117","family":"Tumien\u0117","sequence":"additional","affiliation":[{"name":"Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences; Vilnius University Hospital Santaros Klinikos, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faye H.","family":"Chen","sequence":"additional","affiliation":[{"name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), 6701 Democracy Boulevard, Bethesda, MD 20817, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,15]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12501"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12500"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2024.104977"},{"key":"e_1_3_4_5_2","unstructured":"World Health Organization \u2013 International Telecommunication Union (WHO-ITU). WHO-ITU global standard for accessibility of telehealth services https:\/\/www.who.int\/publications\/i\/item\/9789240050464 (2022 accessed May 5 2025)."},{"key":"e_1_3_4_6_2","unstructured":"National Health Service Scotland. NHS 24 https:\/\/www.nhs24.scot\/ (2025 accessed 5 May 2025)."},{"key":"e_1_3_4_7_2","unstructured":"European Parliamant & Council of the European Union. Regulation (EU) 2016\/679 of the European Parliament and of the Council of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data and repealing Directive 95\/46\/EC (General Data Protection Regulation) (Text with EEA relevance) http:\/\/data.europa.Eu\/eli\/reg\/2016\/679\/oj (2016 accessed 5 May 2025)."},{"key":"e_1_3_4_8_2","unstructured":"European Reference Networks (ERN) https:\/\/health.ec.europa.eu\/rare-diseases-and-european-reference-networks\/european-reference-networks_en (accessed 5 May 2025)."},{"key":"e_1_3_4_9_2","unstructured":"European Commission. Cross-border healthcare https:\/\/health.ec.europa.eu\/cross-border-healthcare_en (2011 accessed 5 May 2025)."},{"key":"e_1_3_4_10_2","unstructured":"\u00danicas Network care for rare diseases https:\/\/www.sjdhospitalbarcelona.org\/en\/hospital\/strategic-projects\/unicas-network-care-rare-diseases (2025 accessed 5 May 2025)."},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S185186"},{"key":"e_1_3_4_12_2","unstructured":"European Parliament & Council of the European Union. Regulation (EU) 2025\/327 of the European Parliament and of the Council of 11 February 2025 on the European Health Data Space and amending Directive 2011\/24\/EU and Regulation (EU) 2024\/2847 (Text with EEA relevance) https:\/\/eur-lex.europa.Eu\/eli\/reg\/2025\/327\/oj\/eng (2025 accessed 5 May 2025)."},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-017-0200-x"},{"key":"e_1_3_4_14_2","first-page":"53","article-title":"Telemedicine \u2013 chances and challenges for medical genetics in Germany","volume":"33","author":"Tecklenburg J.","year":"2021","unstructured":"Tecklenburg J. Telemedicine \u2013 chances and challenges for medical genetics in Germany. Med Genet 2021; 33: 53\u201359.","journal-title":"Med Genet"},{"key":"e_1_3_4_15_2","unstructured":"World Health Organization (WHO). International Classification of Diseases 11th Revision https:\/\/icd.who.int\/en (accessed 5 May 2025)."},{"key":"e_1_3_4_16_2","unstructured":"National Organization for Rare Disorders (NORD). COVID-19 community follow-up survey report https:\/\/rarediseases.org\/wp-content\/uploads\/2022\/10\/NRD-2061-RareInsights-CV19-Report-2_FNL.pdf (2020 accessed 5 May 2025)."},{"key":"e_1_3_4_17_2","unstructured":"Rare Diseases Europe (EURORDIS). How has COVID-19 impacted people with rare diseases? https:\/\/download2.eurordis.org\/rbv\/covid19survey\/covid_infographics_final.pdf (2020 accessed 13 September 2025)."},{"key":"e_1_3_4_18_2","unstructured":"Centers for Medicare & Medicaid Services. Coverage and Payment of Interprofessional Consultation in Medicaid and the Children\u2019s Health Insurance Program (CHIP) https:\/\/www.medicaid.gov\/federal-policy-guidance\/downloads\/sho23001.pdf (2023 accessed May 5 2025)."},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1353\/hpu.2020.0116"},{"key":"e_1_3_4_20_2","unstructured":"World Health Organization (WHO). Global strategy on digital health 2020-2025 https:\/\/www.who.int\/publications-detail-redirect\/9789240020924 (2021 accessed 25 April 2023)."},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.916714"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41746-019-0090-4"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1159\/000517411"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41746-021-00402-x"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/d41573-024-00196-z"},{"key":"e_1_3_4_26_2","first-page":"53","article-title":"Bridging the digital divide for individuals with intellectual disabilities: Implications for well-being and inclusion","author":"Murphy E","year":"2024","unstructured":"Murphy E, Shiels O, Fiori S, et al. Bridging the digital divide for individuals with intellectual disabilities: Implications for well-being and inclusion. Br J Learn Disabil 2024; 53.","journal-title":"Br J Learn Disabil"},{"key":"e_1_3_4_27_2","unstructured":"U.S. Food and Drug Administration (FDA). Digital Health Technologies for Remote Data Acquisition in Clinical Investigations https:\/\/www.fda.gov\/regulatory-information\/search-fda-guidance-documents\/digital-health-technologies-remote-data-acquisition-clinical-investigations (2023 accessed 5 May 2025)."},{"key":"e_1_3_4_28_2","unstructured":"U.S. Food and Drug Administration (FDA). Digital Health Center of Excellence https:\/\/www.fda.gov\/medical-devices\/digital-health-center-excellence (2023 accessed 5 May 2025)."},{"key":"e_1_3_4_29_2","unstructured":"European Medicines Agency Committee for Medicinal Products for Human Use (CHMP). Qualification of novel methodologies for medicine development https:\/\/www.ema.europa.eu\/en\/qualification-novel-methodologies-medicine-development (2020 accessed 5 May 2025)."},{"key":"e_1_3_4_30_2","unstructured":"European Medicines Agency (EMA). Recommendation paper on decentralised elements in clinical trials https:\/\/www.ema.europa.eu\/en\/news\/facilitating-decentralised-clinical-trials-eu (2022 accessed 12 September 2025)."},{"key":"e_1_3_4_31_2","unstructured":"U.S. Food and Drug Administration (FDA). Conducting Clinical Trials With Decentralized Elements: Guidance for Industry Investigators and Other Interested Parties https:\/\/www.fda.gov\/media\/167696\/download (2024 accessed 5 May 2025)."},{"key":"e_1_3_4_32_2","unstructured":"Trials@Home. Trials@Home https:\/\/www.ihi.europa.eu\/projects-results\/project-factsheets\/trialshome (2025 accessed 12 September 2025)."},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02358-x"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02365-y"},{"key":"e_1_3_4_35_2","unstructured":"Medscape. Pathways in Rare Disease https:\/\/www.medscape.org\/advances\/rare-disease-2025a100013m (1994\u20132025 accessed 5 May 2025)."},{"key":"e_1_3_4_36_2","unstructured":"The European Joint Programme on Rare Diseases (EJP RD). MOOC: Diagnosing Rare Diseases: from the Clinic to Research and back https:\/\/www.ejprarediseases.org\/course-diagnosing-rare-diseases-from-the-clinic-to-research-and-back\/ (accessed 5 May 2025)."},{"key":"e_1_3_4_37_2","unstructured":"Project ECHO. Extension for Community Healthcare Outcomes https:\/\/projectecho.unm.edu\/ (2014 accessed 5 May 2025)."},{"key":"e_1_3_4_38_2","unstructured":"Rare voices Australia. RArEST Project https:\/\/rarevoices.org.au\/rarest-project\/ (2022 accessed 5 May 2025)."},{"key":"e_1_3_4_39_2","unstructured":"Medics for Rare Disease (M4RD). Rare Disease 101 https:\/\/learn.m4rd.org\/ (accessed 5 May 2025)."},{"key":"e_1_3_4_40_2","unstructured":"U.S. Government. PUBLIC LAW 114\u2013270\u2014DEC. 14 2016: Expanding Capacity for Health Outcomes Act ECHO Act. U.S. Government 2016."},{"key":"e_1_3_4_41_2","unstructured":"National Organization for Rare Disorders (NORD). NORD Rare Disease Database https:\/\/rarediseases.org\/rare-diseases\/ (2025 accessed 12 September 2025)."},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2023.100808"}],"container-title":["Therapeutic Advances in Rare Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040261427023","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/26330040261427023","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040261427023","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T01:10:55Z","timestamp":1777597855000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/26330040261427023"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":41,"alternative-id":["10.1177\/26330040261427023"],"URL":"https:\/\/doi.org\/10.1177\/26330040261427023","relation":{},"ISSN":["2633-0040","2633-0040"],"issn-type":[{"value":"2633-0040","type":"print"},{"value":"2633-0040","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"article-number":"26330040261427023"}}