Transforming clinical trials in rare genetic diseases through telemedicine.

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Learn more: PMC Disclaimer | PMC Copyright Notice J Community Genet . 2026 Apr 26;17(3):52. doi: 10.1007/s12687-026-00887-7 Transforming clinical trials in rare genetic diseases through telemedicine Marco Crimi 1, 2, ✉ , Sebastiano Bianca 3 Author information Article notes Copyright and License information 1 Kaleidos SCS, Scientific office, https://www.kaleidos.care 2 Net-Medicare SRL, R&D office, Bergamo, Italy 3 BGenetica, Medical and Forensic Genetics, Catania, Italy ✉ Corresponding author. Received 2025 Jun 20; Accepted 2026 Apr 14; Issue date 2026 Jun. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2026. 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. PMC Copyright notice PMCID: PMC13111738  PMID: 42035366 Abstract Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients, protracted diagnostic odysseys, and scarcity of specialized expertise. These factors lead to significant logistical, financial, and emotional burdens on patients and caregivers, often prolonging trial timelines and limiting participant pools. Telemedicine offers transformative solutions by bridging geographical distances and disseminating specialized knowledge. It encompasses traditional approaches like video conferencing, digital health technologies for remote monitoring using mHealth and wearables and enables Decentralized Clinical Trials, significantly enhancing patient access and accelerating recruitment. European Reference Networks, utilizing the Clinical Patient Management System, facilitate cross-border expert collaboration and knowledge sharing for complex cases. Telegenetics democratizes access to genetic counseling and diagnostic services, while digital platforms provide crucial information and educational resources, fostering patient empowerment and self-management. The integration of Real-World Evidence from wearables and IoT devices, combined with advanced analytics like AI/ML, provides objective and continuous data, supporting regulatory decisions. Despite these benefits, challenges remain, including the inability to perform comprehensive physical examinations remotely, concerns about diagnostic accuracy, the digital divide and user adherence, and the lack of harmonized regulatory and policy frameworks across borders. Ethical considerations, data security, and the need for robust evidence and validated remote outcome measures are also critical. The consensus points towards a hybrid model of care and research, strategically combining telemedicine with essential in-person interactions. 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. Supplementary Information The online version contains supplementary material available at 10.1007/s12687-026-00887-7. Keywords: Rare genetic diseases, Telemedicine, Clinical trials, Remote Monitoring, Artificial Intelligence, EHealth Introduction Rare diseases (RDs) are defined in the European Union as conditions with a prevalence of fewer than 5 in 10,000 people (Brizola 2020 ). An estimated 6,000 to 8,000 different RDs have been identified, affecting approximately 350 million people worldwide, with about half of those affected being children (Babac 2018 ). Approximately 70% of RDs are genetically determined and manifest clinically in childhood or adolescence. The low prevalence of individual RDs means that healthcare providers often have limited experience with these conditions, and there is scarce research evidence available (Long 2022 ). This leads to a prolonged “diagnostic odyssey” for patients, even after which, accessing optimal management and care remains a challenge due to the lack of evidence-based treatments and guidelines. Clinical trials for RDs face significant barriers, including small and geographically dispersed patient populations, making recruitment difficult, slow, and expensive (Schneider 2020 ) . Only a small percentage of RDs currently have effective treatments, and the low number of cases often hinders the establishment of robust clinical trials to test new therapies or map disease progression (Long 2022 ). The digital transformation in healthcare, driven by technological advancements, offers promising solutions to these challenges (Pini et al. 2021 ). Telehealth (TH), digital health technologies (DHTs), and advanced data management systems are poised to revolutionize how RDs are diagnosed, managed, and studied, particularly within the context of clinical trials (Chen 2024 ). These technologies can enhance access to specialized expertise, facilitate patient data collection, improve diagnostic accuracy, and support decentralized research models, ultimately aiming to accelerate the development of innovative treatments and improve patient outcomes. This review aims to compare and discuss emerging technologies that are currently reshaping the approach to clinical trials for rare genetic diseases, drawing on information from here cited sources. Methods This review was conducted by systematically synthesizing information to identify and compare emerging technologies relevant to clinical trials for rare genetic diseases. The focus was on understanding how these technologies address the unique challenges of RD research, specifically in the context of genetic conditions. Information was extracted regarding various technological platforms, their applications, reported benefits, and identified limitations or future directions. Key areas of technological innovation investigated included telehealth and telemedicine, genomic sequencing, patient registries, data integration platforms, and the application of artificial intelligence. Particular attention was given to examples that demonstrated improvements in patient access, data collection, diagnosis, patient engagement, and the feasibility of conducting clinical research in geographically dispersed populations. The synthesis aimed to provide an insightful overview, highlighting key concepts and offering explanations beyond mere summarization, while adhering to comprehensive in-text citation guidelines. Results Emerging technologies are fundamentally transforming the landscape of rare genetic disease research and care, particularly impacting clinical trials. Telehealth and telemedicine platforms TH and DHTs have emerged as a crucial tool for overcoming geographical barriers and improving access to specialized care, which is particularly vital for rare diseases due to the limited number and geographical dispersion of experts (Babac 2018 ; Smith 2019 ; Fortunato 2023 ; Shur 2021 ; Bell 2021 ; Mena 2020 ). The COVID-19 pandemic significantly accelerated the adoption of TH, demonstrating its feasibility for maintaining medical care and research when face-to-face visits were restricted (Lampe 2020 ). Impact on clinical trials and care delivery Reduced burden and increased access. TH can reduce the burden on patients and caregivers by minimizing travel and waiting times for consultations, which is particularly beneficial for those with mobility issues or residing in remote areas (Buchholz 2023 ). This expanded accessibility can lead to more diverse and representative patient cohorts for clinical trials (Schneider 2020 ). Digital health technologies and wearable devices for remote monitoring. The rapid advent of mobile health (mHealth) technologies and sophisticated wearable devices has profoundly revolutionized the potential for remote patient monitoring and robust data collection within clinical trials. These innovative tools enable the continuous, real-time surveillance of outpatient data, providing invaluable “real-world evidence” (RWE) that can significantly inform our understanding of disease pathology and aid in identifying sensitive endpoints for therapeutic interventions. This real-time data offers a more comprehensive and accurate picture of disease activity and patient experience than sporadic in-person visits. Specific examples across various rare diseases highlight their utility: A specialized telemedicine platform, the Glycogen Storage Disease (GSD) Communication Platform, was specifically developed to support home site monitoring and seamlessly integrate biochemical, physiological, and dietary parameters for individual patients with hepatic GSD (Hoogeveen 2018 ). This platform incorporated a dedicated GSD App for patients and a GSD clinical dashboard for HCPs, featuring functionalities for dietary registration, emergency protocols, and the crucial import of data from continuous glucose monitors and activity wearables. This allows for data exchange under varying circumstances, thus powerfully supporting clinical trials. Clinical and event-based outcomes of patients receiving enzyme replacement therapy were meticulously collected both during traditional hospital visits and via telemedicine, providing valuable insights into the clinical journey of Mucopolysaccharidosis VI (MPS VI) patients based on real-life data (İnci 2021 ). Remote monitoring programs (RMPs) in Cystic Fibrosis (CF) care, prominently involving tele-spirometry, have demonstrated impressive feasibility and effectiveness (Oppelaar 2024 ). Patients and HCPs alike expressed a strong desire for more remote care, suggesting that a hybrid model, combining reduced in-person visits supplemented by remote monitoring, could be both feasible and highly desirable, especially for stable patients. Studies have also explored mobile apps for self-management, symptom tracking, and medication alerts for CF patients, with features allowing seamless data sharing with healthcare teams. Wearable technology, when combined with a mobile phone application (Lampe 2020 ), has been successfully employed to remotely measure disease activity and patient experience in Gaucher disease , clearly demonstrating the immense potential for collecting comprehensive data directly from patients’ daily lives. The PROFA Study, a prospective observational study, is actively recruiting 200 Friedreich Ataxia (FA) patients across six European centers to meticulously assess patient-reported, psychosocial, and economic outcomes using momentary data assessments via a mobile health application (Buchholz 2023 ). This innovative approach aims to provide profound new insights into the disease’s impact on daily life by combining conventional clinical assessment with repeated home-based assessments and patient-reported outcomes, potentially leading to more precise conclusions for clinical trials. Digital manuals have been unequivocally shown to significantly improve patients’ knowledge about Malignant Hyperthermia (MH) and increase online contact with MH services (Rodrigues 2022 ), powerfully highlighting the utility of digital information for rare diseases. Type 2 Diabetes. A randomized controlled trial evaluated a telemedicine-assisted lifestyle intervention program, demonstrating long-term positive effects on glycemic control, self-management, and self-efficacy (Dunkel 2025 ). This underscores the potential of such interventions for chronic conditions, which could readily be adapted for analogous rare genetic diseases. A feasibility study involving patients with late-onset Tay-Sachs and Sandhoff diseases demonstrated high motivation of participants to engage with mHealth and wearable technologies for observational studies, successfully collecting substantial real-time symptom data and mobile PROMs to identify disease impact (Davies 2020 ). The European Medicines Agency (EMA) has already recognized the power of telehealth by qualifying the first digital endpoint for Duchenne Muscular Dystrophy (DMD) , using wearable-derived digital clinical outcome assessments as a secondary endpoint in clinical trials (Chen 2024 ). This breakthrough enables objective, continuous, and sensitive functional assessments to be performed in patients’ daily lives, paving the way for integrating digital biomarkers into regulatory decision-making for RDs. This yields high-quality efficacy data while simultaneously reducing the burden on participants. Decentralized Clinical Trials (DCTs). TH allows for the decentralization of clinical research, decreasing patient burden, expanding access, and enhancing efficiency (Chen 2024 ). The U.S. FDA has also issued draft guidance on DCTs, explicitly recognizing that electronic communications and IT enable fewer in-person visits and facilitate decentralization, thereby benefiting research on rare diseases and populations with limited mobility. An example is the virtual cohort study of individuals at genetic risk for Parkinson’s disease (LRRK2 carriers) , which recruits participants nationally and conducts standardized assessments, including video-based cognitive and motor examinations, and patient-reported outcomes annually (Schneider 2020 ). This model bypasses the need for multiple physical sites, extensive training, and considerable cost associated with traditional studies. Emergency protocols. Digital tools can provide patients and families with personalized emergency protocols. The website www.emergencyprotocol.net was developed to automatically create personalized emergency letters for patients with inborn errors of metabolism causing fasting intolerance (Rossi 2021 ). This helps patients and caregivers manage acute situations, a critical aspect of rare disease care. Cross-border collaboration and knowledge exchange European Reference Networks (ERNs). Launched in 2017, ERNs are virtual networks enabling healthcare providers across Europe to collaborate and share expertise on complex or rare diseases (Paglialonga 2021 ). The Clinical Patient Management System (CPMS) is a secure, web-based platform developed to facilitate web-based clinical consultations between clinicians and international experts within ERNs (Smith 2020 ). ERN ITHACA (for rare developmental disorders) and ERN EURO-NMD (for rare neuromuscular diseases) utilize CPMS to discuss challenging cases, share expertise, and securely store clinical, genetic, diagnostic, and therapeutic data (Fortunato 2023 ). This promotes a model where “expertise travels instead of patients”. RARE-e-CONNECT. This network technology, piloted in Cyprus, creates electronic collaborative spaces for national and international partnerships in rare disease patient care (Antoniadou 2023 ). It offers features like specialist centre repositories, webinars, and a doctor-patient forum, facilitating knowledge exchange and patient empowerment. Project ECHO. This hub-and-spoke model disseminates medical knowledge to isolated primary care physicians, adapting to rare bone diseases. The rare bone disease TeleECHO connects a core faculty of specialists with clinicians worldwide to share research advances and best practices (Table), overcoming the centralization of medical knowledge at major academic institutions (Tosi 2020 ). Genomic sequencing Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are increasingly recognized as rapid and accurate diagnostic tools for rare hereditary conditions, especially in critically ill new-borns and infants (Ognean 2024 ). Accelerated diagnosis and improved management. Genomic sequencing can significantly shorten the diagnostic odyssey, providing an early and precise diagnosis for complex cases where traditional testing approaches may fail due to overlapping symptoms. For example, a case of D-bifunctional protein deficiency in Romania, a low-resource setting, was diagnosed using WES after initial traditional methods were inconclusive (Ognean 2024 ). Cost-effectiveness. While seemingly expensive upfront, molecular diagnosis through WES/WGS can be cost-effective in the long run by reducing prolonged hospitalizations, re-admissions, multiple investigations, and associated iatrogenic costs due to delayed or incorrect diagnoses. Implications for clinical trials. Early and precise genetic diagnoses facilitate the identification of specific patient cohorts for gene-targeted therapies and clinical trials, ensuring that appropriate interventions can be considered in a timely manner (Schneider 2020 ). Patient registries and data integration Patient registries are essential tools for monitoring disease course, defining trial-ready populations, and collecting real-world data for rare disorders (Lusakowska 2021 ). However, data fragmentation and heterogeneous data structures remain significant challenges (Gisslander 2024 ). Integrated platforms. Projects like RD-Connect serve as global infrastructures that link databases, registries, biobanks, and clinical bioinformatics data into a central resource for rare disease research (Crimi 2025 ). This aggregation of data is crucial for attaining the critical mass of knowledge needed for research and improved care quality. Semantic interoperability. The FAIRVASC project successfully federated six European ANCA-associated vasculitis registries using semantic web technologies and a vasculitis-specific ontology (Gisslander 2024 ). This approach harmonizes data definitions and enables privacy-preserving querying across multiple distributed data sources, addressing challenges of data fragmentation and heterogeneity in rare disease research. Electronic Health Records. Digital patient records are the basis for IT systems in rare diseases, enabling cross-organizational patient management, consultations, and case conferences. In Germany, initiatives like BASE-Netz utilize Electronic Patient Records (EPA) for rare diseases, allowing patients to manage their own health data and control access by healthcare organizations ( https://www.zseer.uk-erlangen.de/en/research/projects/base-netz/ ). Such systems can also funnel data into registers for cooperative research and patient identification for clinical studies. Data integration centres are also being established to create standards for combining data from care and research at university hospitals for networked research, which can also be applied to EPA. Artificial intelligence (AI) and machine learning (ML) AI and ML are emerging as powerful tools for analysing large datasets in rare diseases, promising to accelerate diagnosis and improve patient follow-up (Pini et al. 2021 ). Diagnostic support. The MYO-GUIDE project, for instance, developed an AI tool that analyses fat replacement patterns in muscle MRIs to guide the diagnosis of muscular dystrophies. This tool achieved 95% accuracy, outperforming human experts in classifying disease severity, demonstrating the potential for AI to aid genetic diagnosis. Data analysis and interpretation. AI can help process the considerable amount of data generated from genomic sequencing and patient registries, identifying patterns and insights that would be difficult for humans to discern. Genetic counseling in the digital era Genetic counseling is an integral component of rare genetic disease management, playing a crucial role in enabling individuals at increased genetic risk to make informed decisions: the Community genetics focus encompasses pre- and post-test counseling for genetic testing (Bell 2021 ), providing familial counseling for further reproduction, and assisting in the management of potentially affected siblings (Ognean 2024 ). In the digital era, telegenetics services are proving to be an acceptable and effective means of delivering genetic counseling, significantly improving access, particularly for remote populations (Mena 2020 ). This is critical given the worldwide shortage of genetics providers and the limited access to genetic services outside large academic centers20. Digital platforms offer features such as pre-test questionnaires, genetic health risk assessments, and secure result delivery, enhancing the efficiency of genetic counseling services (Cazzaniga 2022 ). The use of virtual assistants or “Gene-bots” can even provide foundational genetic information and answer patient queries about diseases linked to DNA mutations. However, the integration of digital tools into genetic counseling is not without its challenges. Not all disorders are suitable for digital counseling, and not all counselors may be qualified to provide online services. Concerns also exist regarding the accuracy and up-to-dateness of information available online. Despite these limitations, the general acceptability and utility of telegenetics, combined with its ability to reach underserved populations, underscore its increasing importance in community genetics by facilitating comprehensive risk assessment and supporting informed decision-making across broader geographical areas. It supports the core principle of community genetics by ensuring that individuals can understand their genetic risk and implications, ultimately empowering them in their healthcare journey. Discussion The convergence of emerging technologies—telehealth, genomic sequencing, integrated data platforms, and artificial intelligence—is profoundly reshaping the approach to clinical trials for rare genetic diseases. These innovations directly address the inherent challenges of rarity, geographical dispersion, and limited expertise. Increased accessibility Telemedicine platforms and ERNs like ITHACA and EURO-NMD enable patients in remote locations or with mobility limitations to access specialized consultations and participate in trials without extensive travel (Mena 2020 ). This broadens recruitment pools for clinical trials, making it possible to gather sufficient patient cohorts for statistically meaningful research, even for ultra-rare conditions (Schneider 2020 ). Enhanced data collection and quality Remote monitoring tools, mobile health apps (e.g., PROFA Study, GSD platform), and wearable devices facilitate the collection of real-world, continuous patient data from home settings (Buchholz 2023 ). This continuous, objective data can provide richer insights into disease progression and treatment effectiveness than intermittent clinic visits30. Furthermore, efforts in data harmonization through semantic web technologies, as demonstrated by FAIRVASC, are crucial for integrating disparate registry data and ensuring its findability, accessibility, interoperability, and reusability (FAIR principles) for research (Gisslander 2024 ). This structured data collection also supports the development of national registries, which are vital for understanding disease epidemiology and identifying trial-ready populations (Lusakowska 2021 ). Faster and more accurate diagnosis Rapid genomic sequencing (WES/WGS) drastically reduces the time to diagnosis, particularly for neonates and critically ill infants with complex presentations. An early diagnosis is not only life-altering for the patient and family (allowing for timely interventions or palliative care discussions) but also critical for early enrolment in clinical trials, maximizing the potential benefit of new therapies. AI and machine learning tools, like MYO-GUIDE, complement this by accelerating the analysis and interpretation of complex diagnostic images, improving diagnostic accuracy (Pini 2021 ). Improved patient engagement and education Patient-facing digital resources, educational programs (e.g., VASCERN’s Pills of knowledge), and online patient communities empower patients and caregivers with high-quality, understandable information (Rodrigues 2022 ; Long 2022 ; Castro 2019 ; Paglialonga 2021 ). These platforms also foster peer-to-peer support and “collective intelligence,” where patients share experiential knowledge, which can be invaluable for understanding disease impact on daily life and informing clinical practice (Antoniodou 2023 ). This participatory approach ensures that technological solutions are co-designed with stakeholders, increasing their usability and acceptance. Support for community genetics These technologies align perfectly with the goals of community genetics. By facilitating genetic screening (e.g., via accessible genetic counseling platforms), enabling better registration of genetic conditions through robust registries, and providing public education on genetic issues (e.g., through ERN-produced guidelines disseminated locally), they empower individuals to make informed decisions about their genetic risk. The ability to identify high-risk individuals more efficiently, assess their risk comprehensively, and provide accessible, tailored information fundamentally enhances the capacity of community genetics services. The reduction in “diagnostic odyssey” and improved access to expertise directly supports proactive health management within communities. Challenges and future directions Despite the immense potential, several challenges persist. Interoperability and standardization remain key hurdles; a lack of common data platforms, clear data sharing legislation, and standardized workflows across different healthcare systems hinders seamless data exchange, despite initiatives like CPMS and FAIRVASC (Gisslander 2024 ). Data privacy and security are paramount, especially with the increased sharing of sensitive genetic and health information, requiring robust encryption and adherence to regulations like GDPR (Cazzaniga 2022 ). The digital divide —disparities in access to technology and digital literacy—can exclude vulnerable populations, necessitating inclusive design and educational support for both patients and healthcare professionals (Kocher 2021 ). Furthermore, integration into routine clinical practice requires supportive infrastructure, appropriate policies, and sustainable financial models. Collaborative efforts between patient organizations, clinicians, researchers, and policymakers are crucial to overcome these obstacles and ensure that technological advancements translate into tangible improvements in patient care and research for rare genetic diseases (Rossi 2021 ). The continued evaluation of these systems and the establishment of minimum requirements, such as multilingual accessibility, will be vital for maximizing their impact. Conclusion Emerging technologies are indeed reshaping the landscape of clinical trials for rare genetic diseases, offering unprecedented opportunities to address long-standing challenges. Telehealth and telemedicine platforms, advanced genomic sequencing, integrated patient registries, and the burgeoning field of artificial intelligence are collectively increasing patient access to specialized care and clinical trials, accelerating accurate diagnoses, enhancing the quality and quantity of research data, and empowering patients through education and community support. These advancements are not merely technological but represent a paradigm shift towards a more patient-centred, collaborative, and efficient approach to rare disease research and care. While challenges related to interoperability, data privacy, digital literacy, and sustainable integration remain, a continued coordinated effort across all stakeholders will be essential to fully harness the transformative potential of these technologies, ultimately leading to improved outcomes for individuals living with rare genetic conditions. Supplementary Information Below is the link to the electronic supplementary material. Supplementary Material 1 (DOCX 13.9 KB) (14KB, docx) Author contributions M.C. made substantial contributions to the conception of the work, prepared the table and drafted the manuscript; S.B. revised it critically for important intellectual content; both authors approved the version to be published. Funding This study was supported by the grants “PNC0000003 - AdvaNcedTechnologies for Human-centrEdMedicine” and “THCS23HF_00084 - ARMS4elderly” awarded to MC. Data availability No datasets were generated or analysed during the current study. Declarations Table A comparative table of available telehealth solutions in the field of (genetic) rare diseases. Competing interests The authors declare no competing interests. Footnotes Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. 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