Melissa A. ParisiAdam L. HartmanMary Catherine V. LetinturierElena-Alexandra TataruVictoria AntoniadouGareth BaynamLara BloomMarco CrimiMaria G. Della RoccaGiuseppe DidatoSofia Douzgou HougeAnneliene H. JonkerMartina KawomeFriederike MuellerJames O’BrienRatna Dua PuriNuala RyanThong Meow KeongBirutė TumienėFaye H. Chen2026-10-212026-10-212026-0310.1177/26330040261427023https://dspace-cris.utar.edu.my/handle/123456789/11816The 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. © The Author(s), 2026. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).en-USdecentralized clinical trialeHealthIRDiRCkey opinion leaderpeer mentoringrare diseaserare disease carerare disease educationrare disease researchteleconsultationtelehealthtelemedicineAfrica south of the Saharaclinical trialcontinuing educationdiagnosiseducationEuropehealth care accesshealth care personnelhumaninterviewknowledge gapleadershipmedical carementoringopen accesspharmacoeconomicsphysicianreviewUnited StatesChallenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task forcetext::journal::journal article::review article