Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
Open accessAbstract
This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.
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Delays in diagnosis lead to delays in treatment and poor prognosis.
“delays in diagnosis lead to delays in treatment and poor prognosis7,8.”
From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [7]
Section 3.2, “The Patient Journey” (page unavailable), says that delayed diagnosis leads to disease progression and worse health outcomes, supporting the poor-prognosis part of the claim. It discusses delays and barriers to treatment, but does not establish that diagnostic delays themselves cause treatment delays. (LLM, conf=0.84)
Experimental — accuracy not yet measuredTimely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world.
“Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world”
From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [7]
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Luzzatto, L., & Makani, J. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.770640 · Cited by 30 · see citing works
Nguyen, C. Q., Kariyawasam, D. S. T., Concepcion, K., Grattan, S., Hetherington, K., Wakefield, C. E., Woolfenden, S. R., Dale, R. C., Palmer, E. E., & Farrar, M. A. (2022) · Health Expectations · doi:10.1111/hex.13625 · Cited by 30 · cited 1× · see citing works
“Patient organizations could support patients facing such odyssey by providing institutional information tools (such as websites and helplines), as well as social and psychological services [102].”
BackgroundLi, X., Liu, M., Lin, J., Li, B., Zhang, X., Zhang, S., Lu, Z., Zhang, J., Zhou, J., & Ou, L. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01954-7 · Cited by 28 · see citing works
Cost-of-Illness in Rare Diseases
Linertová, R., García‐Pérez, L., & Gorostiza, I. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-67144-4_17 · Cited by 26 · cited 1× · see citing works
“Moreover, cost-of-illness studies of RDs rarely analyze the outcomes or benefits of possible treatments [65].”
BackgroundMolecular response to imatinib in patients with chronic myeloid leukemia in Tanzania
Nasser, A., Hussein, A. K., Chamba, C. C., Yonazi, M., Mushi, R., Schuh, A., & Luzzatto, L. (2021) · Blood Advances · doi:10.1182/bloodadvances.2020002973 · Cited by 26 · cited 1× · see citing works
“One example is of a drug made available to patients with chronic myeloid leukemia in some African countries through pharmaceutical and foundation partnerships [104].”
BackgroundShaping national plans and strategies for rare diseases in Europe: past, present, and future
Hedley, V., Bottarelli, V., Weinman, A., & Taruscio, D. (2021) · Journal of Community Genetics · doi:10.1007/s12687-021-00525-4 · Cited by 26 · see citing works
Rosselli, D., Rueda, J. D., & Solano, M. L. (2012) · Journal of Medical Ethics · doi:10.1136/medethics-2011-100204 · Cited by 25 · cited 1× · see citing works
“This is, for example, the case of patients with mucopolysaccharidosis VI in Colombia, who face the responsibility of costs associated with complications, frequent healthcare encounters, and caregiver dedication [16].”
BackgroundThe Orphan Drug Act at 35: Observations and an Outlook for the Twenty-First Century
Bagley, N., Berger, B., Chandra, A., Garthwaite, C., & Stern, A. D. (2018) · Innovation Policy and the Economy · doi:10.1086/699934 · Cited by 25 · see citing works
Ninomiya, K., & Okura, M. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02290-0 · Cited by 25 · cited 6× · see citing works
“While some countries such as Australia, France, Italy, Japan, and the United States have established dedicated RD diagnosis programs to speed up the process of diagnosing patients with RDs [97–101], this is not the case for most countries.”
BackgroundInfluentialGreene, J., & Guanais, F. C. (2018) · Revista Panamericana de Salud Pública · doi:10.26633/rpsp.2018.127 · Cited by 24 · see citing works
Rare diseases, common challenges
(2022) · Nature Genetics · doi:10.1038/s41588-022-01037-8 · Cited by 24 · see citing works
Health inequity in workers of Latin America and the Caribbean
Silva-Peñaherrera, M., López-Ruiz, M., Merino-Salazar, P., Gómez-García, A., & Benavides, F. (2020) · International Journal for Equity in Health · doi:10.1186/s12939-020-01228-x · Cited by 23 · see citing works
Vieira, T. A., Trapp, F. B., de Souza, C. F. M., Schüler‐Faccini, L., Jardim, L. B., Schwartz, I. V. D., Riegel, M., Vargas, C. R., Burin, M. G., Leistner‐Segal, S., et al. (2019) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2018-0214 · Cited by 20 · see citing works
Human whole genome sequencing in South Africa
Glanzmann, B., Jooste, T., Ghoor, S., Gordon, R. K., Mia, R., Mao, J. X., Li, H., Charls, P., Douman, C., Kotze, M. J., et al. (2021) · Scientific Reports · doi:10.1038/s41598-020-79794-x · Cited by 20 · see citing works
Conradie, E. H., Malherbe, H. L., Hendriksz, C. J., Dercksen, M., & Vorster, B. C. (2021) · Biopreservation and Biobanking · doi:10.1089/bio.2020.0108 · Cited by 20 · cited 11× · see citing works
“RDs are only recently and progressively becoming a policy priority for the UN and WHO, extending an invitation to increase health policies and initiatives at the regional and country levels.”
BackgroundInfluentialAnalysis of patient access to orphan drugs in Turkey
Kockaya, G., Atalay, S., Oğuzhan, G. E., KURNAZ, M., Ökçün, S., Gedik, C. S., Şaylan, M., & Şencan, N. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01718-3 · Cited by 16 · see citing works
Cost of hemophilia A in Turkey: an economic disease burden analysis
Malhan, S., Öksüz, E., Antmen, B., Ar, M. C., Balkan, C., & Kavaklı, K. (2021) · Journal of Medical Economics · doi:10.1080/13696998.2021.1965388 · Cited by 16 · cited 1× · see citing works
“• Lack of reimbursement of orphan drugs [7,83].”
BackgroundVilla, F., Filippo, A. D., Pierantozzi, A., Genazzani, A. A., Addis, A., Trifirò, G., Cangini, A., Tafuri, G., Settesoldi, D., & Trotta, F. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.820757 · Cited by 16 · cited 1× · see citing works
“Orphan drugs cost roughly five times more than non-orphan drugs [22], which poses challenges and concerns in terms of the sustainability of health systems [23].”
BackgroundDrivers of Orphan Drug Development
Mingorance, A. (2018) · ACS Medicinal Chemistry Letters · doi:10.1021/acsmedchemlett.8b00438 · Cited by 11 · see citing works
Adachi, T., Imanishi, N., Ogawa, Y., Furusawa, Y., Izumida, Y., Izumi, Y., & Suematsu, M. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0943-y · Cited by 11 · see citing works
Self-citationRare Diseases in India:Time for Cure-Driven Policy Initiatives and Action
Taneja, A., Shashidhara, L. S., & Bhattacharya, A. (2020) · Current Science · doi:10.18520/cs/v118/i10/1500-1506 · Cited by 9 · see citing works
An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
Volgina, S. Y., & Sokolov, A. A. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.754073 · Cited by 9 · see citing works
Garrison, S. R., Kennedy, A., Manetto, N., Pariser, A., Rutter, J. L., & Yang, G. (2022) · Forefront Group · doi:10.1377/forefront.20220128.987667 · Cited by 9 · cited 2× · see citing works
“The limited availability of medical history and epidemiologic data regarding RDs, as well as a standardized methodological approach to calculate cost-of-illness, constrains the possibility to estimate direct and indirect costs associated with RDs and, consequently, the estimation of potential economic benefits of trea…”
BackgroundWhy children do not receive treatment
Choonara, I. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-305257 · Cited by 8 · cited 1× · see citing works
“younger and the poorer segments of populations, similar to what happens regarding the treatment of other diseases [87,88].”
Butti, N., Castagna, A., & Montirosso, R. (2022) · Children · doi:10.3390/children9040551 · Cited by 7 · see citing works
An Overview About Rare Diseases in Saudi Arabia and Reimbursement of Orphan Drugs
Alsaqa’aby, M., & Ibrahim, N. A. R. (2019) · Global Journal of Medical Therapeutics · doi:10.46982/gjmt.2019.105 · Cited by 6 · see citing works
Access to Affordable Orphan Medicines in Europe: An EHA Position Paper
Merlini, G., Gribben, J. G., Macintyre, E. A., Piggin, M., & Doeswijk, R. (2020) · HemaSphere · doi:10.1097/hs9.0000000000000477 · Cited by 6 · cited 1× · see citing works
“This, in turn, affects the quality of care and treatment that RD patients receive [51,52].”
BackgroundGlobal Data Access for Solving Rare Disease, A Health Economics Value Framework.
Belsey, J., Chaihorsky, L., Chediak, L., Currie, G. R., Goranitis, I., & Marshall, D. A. (2020) · Minerva Access (University of Melbourne) · Cited by 5 · see citing works
PRO11 COSTS OF TREATMENT OF ATYPICAL HEMOLYTIC UREMIC SYNDROME IN POOR POPULATION OF COLOMBIA.
Zakzuk, J. A., Gamero, K., Mercado, J. C. F., Alvis‐Guzmán, N., & Wilchez, J. P. (2020) · Value in Health · doi:10.1016/j.jval.2020.04.1242 · Cited by 3 · see citing works
Impacto económico de los inhibidores en hemofilia tipo A pediátrica
Facundo, N. A. L., Rodríguez‐Castillejos, C., Romero, Y., Gay, J. G., & Prada, D. (2019) · Gaceta Médica de México · doi:10.24875/gmm.19004674 · Cited by 2 · see citing works
Gilardino, R. E., Cabra, H., & Zanela, O. O. (2016) · Value in Health · doi:10.1016/j.jval.2016.03.775 · Cited by 1 · cited 1× · see citing works
“In Argentina, around 50% of patients consult three or more centers, many of which require traveling to other towns or provinces [70] since the large urban centers contain most of the healthcare facilities in the country [90].”
Background
Flagged first, then by citations
Research works printed but not linked: 5
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Cited by
Sorted by citations
Enhancing diagnostic capability with multi-agents conversational large language models
Chen, X., Yi, H., You, M., Liu, W., Wang, L., Li, H., Zhang, X., Guo, Y., Fan, L., Chen, G., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01550-0 · Cited by 117 · see citing works
“Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world, and delays in diagnosis lead to delays in treatment and poor prognosis 7,8 .”
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Jonker, A. H., Tãtaru, E.-A., Graeßner, H., Dimmock, D., Jaffé, A., Baynam, G. S., Davies, J. O. J., Mitkus, S., Iliach, O., Horgan, R., et al. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-01059-3 · Cited by 41 · see citing works
“For example, these inequities are due to the lack of detailed standardized diagnostic criteria, for which availability varies from region to region 91 , or due to the costs of obtaining a diagnosis 92 .”
The impact of rare diseases on the quality of life in paediatric patients: current status
Dumbuya, J., Zeng, C.-Z., Deng, L., Li, Y.-L., Chen, X.-L., Ahmad, B., & Lu, J. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1531583 · Cited by 34 · see citing works
Global insight into rare disease and orphan drug definitions: a systematic literature review
Abo-Zaid, G., Kerr, K., Alomary, H., Al‐Omar, H. A., & McKnight, A. J. (2025) · BMJ Open · doi:10.1136/bmjopen-2024-086527 · Cited by 19 · see citing works
Khaskheli, M. A., Nizamani, M. M., Tarafder, E., Das, D., Nosheen, S., Muhae‐Ud‐Din, G., Khaskheli, R. A., Ren, M.-J., Wang, Y., & Yang, S. (2025) · Journal of Fungi · doi:10.3390/jof11030207 · Cited by 18 · see citing works
“The following are some key policy recommendations [319].”
den Hollander, B., van Konijnenburg, E. M. M. H., Hewitson, B., van der Meijden, J. C., Balfoort, B. M., Winter, B., Müller, A. R., Wasserman, W. W., Ferreira, C. R., & van Karnebeek, C. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12835 · Cited by 17 · see citing works
Poli, M. C., Rebolledo‐Jaramillo, B., Lagos, C., Orellana, J., Moreno, G., Martin, L., Encina, G., Böhme, D., Faùndes, V., Zavala, M. J., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-023-01523-5 · Cited by 17 · see citing works
“In some countries, patients and clinicians opt to outsource testing, but this usually requires substantial personal out-of-pocket payments, which also limits access to only those who can afford these payments [15, 16].”
Backgroundvan Karnebeek, C., O’Donnell‐Luria, A., Baynam, G. S., Baudot, A., Groza, T., Jans, J. J. M., Lassmann, T., Letinturier, M. C. V., Montgomery, S. B., Robinson, P. N., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03361-0 · Cited by 17 · see citing works
“There are multiple factors to address the need for better diversity and equity in diagnostics, and a detailed discussion of these is out of the scope of this review and has been discussed elsewhere [113].”
BackgroundThe role of public health in rare diseases: hemophilia as an example
El-Sayed, A., Reiss, U. M., Hanna, D. A., & Bolous, N. S. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1450625 · Cited by 16 · see citing works
Liu, G. G., Guan, H., Peng, N., Xie, S., Wang, K., Liu, L. Z., Zhou, Y., & Jin, H. (2024) · Value in Health · doi:10.1016/j.jval.2024.06.020 · Cited by 14 · see citing works
Osteogenesis Imperfecta: A study of the patient journey in 13 European countries
Westerheim, I., Cormier‐Daire, V., Gilbert, S. F., O’Malley, S. M., & Keen, R. W. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03345-0 · Cited by 13 · see citing works
Briscoe, S., Pintado, C. M., Sutcliffe, K., Meléndez‐Torres, G. J., Garside, R., Lawal, H., Orr, N., Shaw, L., & Coon, J. T. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03818-w · Cited by 12 · see citing works
“They may also lead to differences in health outcome within the rare disease community, e.g. where resources are unevenly distributed regionally [3].”
Beraza-Millor, M., Rodríguez-Castejón, J., del Pozo‐Rodríguez, A., Rodríguez‐Gascón, A., & Solinís, M. Á. (2024) · BioDrugs · doi:10.1007/s40259-024-00674-1 · Cited by 13 · see citing works
“The condition of rare disease contributes to the difficulty in the development of new treatments since clinical trials present challenges for several reasons [193, 194].”
Neves, S. R., & Kaddi, C. D. (2024) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.3451 · Cited by 12 · see citing works
Rare disease challenges and potential actions in the Middle East
Fasseeh, A. N., Korra, N., Al-Jedai, A. H., Seyam, A. M., Almudaiheem, H., Alabdulkarim, H. A., Janahi, M., Gamal, M., Fahmy, S., Dallal, S. A. M. A., et al. (2025) · International Journal for Equity in Health · doi:10.1186/s12939-025-02388-4 · Cited by 11 · see citing works
“Additionally, the limited number of rare disease experts and the heterogeneity of these conditions in terms of pathogenesis, symptom presentation, natural history, disease severity, and progression results in misdiagnosis and an underestimation of the true frequency of these diseases [1, 37, 40].”
Macaluso, M., Rothenberg, M. E., Ferkol, T. W., Kuhnell, P., Kaminski, H. J., Kimberlin, D. W., Benatar, M. G., & Chehade, M. (2024) · JMIR Public Health and Surveillance · doi:10.2196/48430 · Cited by 11 · see citing works
“Underrepresentation of minority groups may be related to the globally recognized barriers to access to RD diagnosis, specialized care and social support [72,73], and other determinants of lack of participation in research [74,75].”
BackgroundWeber, M. T., Noll, R., Marchl, A., Facchinello, C., Grünewaldt, A., Hügel, C., Musleh, K., Wagner, T. O. F., Storf, H., & Schaaf, J. (2025) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocaf034 · Cited by 12 · see citing works
“15”
Ibrahim, A. M., Elioba, J. L. R., Ali, F. A., Mohamed, M. M., Omar, A. M., J.Osman, A., Warsame, F. D., Ali, R. A., Okurut, E., & Hakizimana, T. (2025) · International Journal of Reproduction Contraception Obstetrics and Gynecology · doi:10.18203/2320-1770.ijrcog20252373 · Cited by 11 · see citing works
Graeßner, H., Ripp, S., Pereira, A. M., Schaefer, F. S., Mathijssen, I. M. J., Blay, J., Mulders, P., Evangelista, T., Ligtenberg, M. J. L., Wilde, A. A. M., et al. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04341-2 · Cited by 11 · see citing works
Self-citationEletti, F., Tagi, V., Greco, I. P., Stucchi, E., Fiore, G., Bonaventura, E., Bruschi, F., Tonduti, D., Verduci, E., & Zuccotti, G. (2025) · Nutrients · doi:10.3390/nu17030455 · Cited by 11 · see citing works
“%) is to ensure integrated patient care by combining various services to provide diagnosis, treatment, monitoring, and rehabilitation [2].”
Edu, E., Okesanya, O. J., & Lucero‐Prisno, D. E. (2023) · Journal of Medicine Surgery and Public Health · doi:10.1016/j.glmedi.2023.100032 · Cited by 10 · see citing works
Economic Burden of Haemophilia from a Societal Perspective: A Scoping Review
El-Sayed, A. A., & Bolous, N. S. (2024) · PharmacoEconomics - Open · doi:10.1007/s41669-024-00540-4 · Cited by 9 · see citing works
“This patient-centric mindset should serve as a reminder that economic outcomes need to be estimated from a societal perspective [38, 79, 84, 114, 120, 121, 123].”
Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics
Cacoub, E., Lefebvre, N. B., Milunov, D., Sarkar, M., & Saha, S. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1520467 · Cited by 9 · see citing works
“Collaborative efforts between researchers, pharmaceutical companies, and policymakers are crucial to bridge this gap and ensure that everyone has the opportunity to benefit from these advancements.”
The International/Canadian hereditary angioedema guideline
Betschel, S., Binkley, K. E., Borici‐Mazi, R., Chapdelaine, H., Hébert, J., Kanani, A. S., Keith, P. K., Lacuesta, G., Waserman, S., Yang, W., et al. (2026) · Allergy Asthma and Clinical Immunology · doi:10.1186/s13223-025-00999-8 · Cited by 9 · see citing works
Health services interventions to improve the quality of care in rare disease: a scoping review
Chou, C., Wiredu, S. O., Imhof, L. V., Tan, A., Agarwal, S., Lydston, M., & Merker, V. L. (2024) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040241262810 · Cited by 8 · see citing works
“36 The high-lighted intervention trends emphasize the challenges patients with rare diseases face in accessing specialized expertise and receiving appropriate care.”
Kang, Q., Fang, Y., Yang, Y., Li, D., Lin, Z., Chen, X., Tu, X., & Jin, C. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03333-4 · Cited by 8 · see citing works
“However, specific treatments are expensive [26, 27] and may be not covered by national health insurance [28, 29], which places a heavy economic burden on patients [30, 31].”
BackgroundClark, A., Wallingford, C. K., Krause, M., Renton, H., Yanes, T., Jacobs, C., Brett, G. R., & McInerney-Leo, A. M. (2024) · Journal of Genetic Counseling · doi:10.1002/jgc4.1996 · Cited by 10 · see citing works
“These attributes are recognized as essential in the promotion of equitable care path - ways for rare condition families (Adachi et al., 2023) and uniquely position genetic counselors to create partnerships necessary for ongoing coordinated care.”
From roadmap to a sustainable end-to-end individualized therapy pathway
Jonker, A., Tataru, E., Dimmock, D., Bateman-House, A., Graessner, H., Baynam, G., Augustine, E., Jaffe, A., Pasmooij, A. M., Iliach, O., et al. (2025) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040251339204 · Cited by 9 · see citing works
Grant, A. M., Taylor, N. J., Maguire, J. M., Graves, S. D., Signorelli, C., Fuentes-Bolanos, N., Tucker, K., & Cruickshank, M. (2025) · Familial Cancer · doi:10.1007/s10689-025-00474-8 · Cited by 8 · see citing works
Balkhi, B. S., Almuaither, A., & Alqahtani, S. (2023) · Saudi Pharmaceutical Journal · doi:10.1016/j.jsps.2023.101738 · Cited by 8 · see citing works
“The market for ODs is limited in the absence of such policies, and pharmaceutical companies may not invest in the development of these drugs because of financial constraints (Adachi et al., 2023).”
Málaga, M., Rodríguez-Calienes, A., Chavez‐Ecos, F. A., Huerta‐Rosario, A., Alvarado‐Gamarra, G., Cabanillas‐Lazo, M., Moran-Ballon, P., Velásquez‐Rimachi, V., Martínez-Esteban, P. C., & Alva‐Díaz, C. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2023.1260610 · Cited by 9 · see citing works
The Plight of Rare Diseases in Southern Africa: Health and Social Services Policy RecommendationsPreprint
Mwakilili, A. D., Alimohamed, M. Z., Modern, G., Mbarak, S., Ahmad, H., Ozcan, B., Mtshali, N., Tshijila, H., du Plessis, K., Selebatso, E., et al. (2023) · doi:10.32388/lghfl8 · Cited by 8 · see citing works
Toward an ethical future for orphan drugs: balancing access, affordability, and innovation
Alum, E. U., Ekpang, J. E., Ekpang, P. O., Ainebyoona, C., Nwagu, K. E., Nwuruku, O. A., & Muhammad, K. (2025) · Journal of Medical Economics · doi:10.1080/13696998.2025.2577514 · Cited by 8 · see citing works
“Unlike common diseases, rare conditions frequently do not attract the attention of large-scale pharmaceutical research due to their limited market potential 12 .”
Khuntha, S., Prawjaeng, J., Ponragdee, K., Sanmaneechai, O., Srinonprasert, V., & Leelahavarong, P. (2024) · Applied Health Economics and Health Policy · doi:10.1007/s40258-024-00915-y · Cited by 8 · see citing works
Haneveld, M. J. K., de Mortier, C. A., Hugon, A., Cornel, M. C., Gaasterland, C. M. W., & van Eeghen, A. M. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03673-9 · Cited by 8 · see citing works
“Individuals with rare conditions, such as rare congenital malformations and/or intellectual disability, often face long diagnostic journeys and unmet healthcare needs [1].”
Potential of Artificial Intelligence to Accelerate Drug Development for Rare Diseases
Napolitano, G., Has, C., Schwerk, A. M. K., Yuan, J.-H., & Ullrich, C. (2024) · Pharmaceutical Medicine · doi:10.1007/s40290-023-00504-9 · Cited by 7 · see citing works
“Around half of the RDs affect children, a third of them will not see their fifth birth-day [16].”
Origa, R., & Issa, L. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13226966 · Cited by 6 · see citing works
“Achieving these objectives requires the full commitment and engagement of policymakers, as per the Standard Development Goals that share the vision of a world in which health equity is promoted [135].”
Impact on the family of a child’s rare disease: A large cross-sectional study
Jobling, J., Teutsch, S. M., Eslick, G. D., & Elliott, E. J. (2025) · Rare · doi:10.1016/j.rare.2025.100066 · Cited by 6 · see citing works
Abo-Zaid, G., Al‐Omar, H. A., Alrabiah, A., Almuaither, A., & McKnight, A. J. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1583477 · Cited by 6 · see citing works
Optimizing Patient Access to Orphan Medicinal Products: Lessons from Central and Eastern Europe
Kluszczynski, T., Németh, B., Władysiuk, M., Czech, M., Kamusheva, M., Fotin, N., Rose, S., Doležal, T., & Hren, R. (2025) · Journal of Market Access & Health Policy · doi:10.3390/jmahp13020024 · Cited by 6 · see citing works
“Timely diagnosis and the selection of an appropriate therapeutic strategy can not only improve care for these patients but can also reduce or offset the direct and indirect costs associated with supportive treatment or a lack of treatment [3].”
Hamad, A. A., Al-Jedai, A. H., Ojeil, R., Al‐Jazairi, A. S., AlAssy, A., AlRuthia, Y. S., Naeem, W. A., Almudaiheem, H., Alsaadi, M., Alagil, N. A., et al. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1667846 · Cited by 6 · see citing works
Richardson, T., Rice, M., Lyon, M. E., Kobernick, M. S., & Brackbill, L. (2024) · Journal of Managed Care & Specialty Pharmacy · doi:10.18553/jmcp.2024.30.7-b.s1 · Cited by 6 · see citing works
Castaman, G., Linari, S., Barbato, A., Costantino, N., Dionisi‐Vici, C., Menni, F., Procopio, E., Ramat, S., Torquati, F., Verrecchia, E., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13226981 · Cited by 5 · see citing works
“In Europe, delayed diagnosis, disparities in available medical treatment across countries, access to treatment, and reimbursement issues were identified as crucial aspects among them [6].”
Self-citationSingh, K., Usman, S., Zeeshan, S., Yanamala, N. V. K., Nichols, M., Bhise, V. V., Bokhari, S., Sengupta, P. P., & Ahmed, Z. (2025) · Methods in cell biology · doi:10.1016/bs.mcb.2025.03.018 · Cited by 5 · see citing works
Obeagu, E. I. (2025) · Blood and Lymphatic Cancer Targets and Therapy · doi:10.2147/blctt.s518005 · Cited by 5 · see citing works
Zaph, S., Leiser, R. J., Tao, M., Kaddi, C. D., & Xu, C. R. (2024) · Handbook of experimental pharmacology · doi:10.1007/164_2024_734 · Cited by 5 · see citing works
Refolo, P., Raimondi, C., Battaglia, L., Borràs, J. M., Closa, P., Scalzo, A. L., Marchetti, M., López, S. M., Pérez, J. M. S., Sampietro-Colom, L., et al. (2025) · Healthcare · doi:10.3390/healthcare13030321 · Cited by 5 · see citing works
“Children diagnosed with melanoma and other rare diseases, along with their care-givers, often experience significant psychological challenges, including anxiety, depression, and feelings of isolation [18].”
Influentialvan Hooff, L. C., Merz, E., Gebremeskel, A., de Jong, J. A., Burchell, G. L., & Lunshof, J. E. (2025) · BMC Medical Ethics · doi:10.1186/s12910-025-01188-3 · Cited by 5 · see citing works
“Without research specifically addressing the needs of patients with rare diseases like DBAS, there is a risk of overlooking important factors influencing treatment decisions, access to care, and the successful implementation of emerging therapies [7, 92].”
Merker, V. L., Ma, Y., Chibnik, L. B., Radtke, H. B., Kelts, K., Yohay, K. H., Ullrich, N. J., Plotkin, S. R., & Jordan, J. T. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03677-5 · Cited by 5 · see citing works
“Limited access to rare disease care, exacerbated by insurance denials for specialist care, is a known problem across many rare diseases, [13, 14] and may be worse for adults due to barriers in transitioning from pediatric to adult centers [15].”
Automating evaluation of LLM-generated responses to patient questions about rare diseases
Zhao, M., Oh, I. Y., Gupta, A., Cohen‐Cutler, S., Harmoney, K. M., Lai, A. M., & Sisk, B. A. (2026) · JAMIA Open · doi:10.1093/jamiaopen/ooag054 · Cited by 4 · see citing works
Information content as a health system screening tool for rare diseases
Groza, T., Robinson, P. N., Lim, W. K., Narasimhalu, K., Hsieh, J. Y. C., Yeo, K. K., Goh, B. K., Thomas, T. G. S., Wong, T. Y., Karnani, N., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-02096-x · Cited by 4 · see citing works
Xie, J., Jin, Y., Shen, M., Chen, L., & Zhang, S. (2023) · NEJM Catalyst · doi:10.1056/cat.23.0297 · Cited by 4 · see citing works
Durmuş, S., Yücesan, E., Aktug, S., Utz, B., Çağlayan, A. O., Gençpınar, P., Günay, Ç., Oktay, Y., Yildirim, R. N., Yigit, A., et al. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2024.1501942 · Cited by 4 · see citing works
Enhancing diagnostic precision for rare diseases using case-based reasoning
Noll, R., Berger, A., Facchinello, C., Stratmann, K., Schaaf, J., & Storf, H. (2025) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocaf092 · Cited by 4 · see citing works
Skouw‐Rasmussen, N., & Savini, L. (2023) · The Journal of Haemophilia Practice · doi:10.2478/jhp-2023-0011 · Cited by 4 · see citing works
Wehrli, S., Dwyer, A. A., Baumgartner, M. R., Lehmann, C. U., & Landolt, M. A. (2024) · International Journal of Public Health · doi:10.3389/ijph.2024.1607548 · Cited by 4 · see citing works
“Frequent healthcare utilization is a driver of increased healthcare costs that can negatively affect accessible services, especially for individuals with reduced mobility [58, 59].”
BackgroundStudy on the disease burden of patients with mucopolysaccharidosis type II in China
Ni, Y., Li, M., Wang, S., Yu, H., Wang, Y.-Q., Dong, F.-Y., Chen, H.-X., Duan, S., & Luo, J. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03432-2 · Cited by 4 · see citing works
“This indicates that the overall diagnosis and treatment capacity of rare diseases is insufficient, resulting in rare diseases being mainly concentrated in large tertiary-level public hospitals and less involved in primary hospitals, which delays patient treatment to a certain extent [16].”
BackgroundStoesz, A., Joers, B. J., & Gaviglio, A. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03459-5 · Cited by 4 · see citing works
Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis
Goel, D., Wilson, A. C., Baynam, G. S., Waters, K. A., Pillow, J. J., & Rao, S. C. (2024) · Early Human Development · doi:10.1016/j.earlhumdev.2024.106185 · Cited by 4 · see citing works
Paradox of possibilities: the rare landscape in the Asia Pacific Region
Jain, R., Wang, C. M., Foster, L., Li, E. Y., Nishimura, Y., & Tsang, K. P. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.42 · Cited by 4 · see citing works
Self-citationLanguage in rare disease: a call for systemic and empathetic action
Baynam, G. S., Boycott, K. M., Johnson, K., & Mckay, L. (2026) · The Lancet · doi:10.1016/s0140-6736(26)00359-4 · Cited by 3 · see citing works
Al-Jedai, A. H., Almudaiheem, H., Aburas, W., Almutairi, E., Eshmawi, M. T., Sulaiman, K. A. A., Tawfik, E. A., Alluhidan, M., Alowairdhi, M. A., Awad, N. S., et al. (2026) · Frontiers in Public Health · doi:10.3389/fpubh.2026.1765428 · Cited by 3 · see citing works
Smartphone-Based Proactive Self-Screening for Ocular Surface Malignancies
Wang, R., Bi, S., Lin, D., Li, M., Zhao, L., Zhou, Y., Jin, L., Chen, W., Li, R., Shang, Y., et al. (2026) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2026.1609 · Cited by 3 · see citing works
Ih, D., Amaral, K., Shi, H., Jamal, A., Kikuta, N. T., Martin, G., Ren, L. Y., Srinivasan, M., Palaniappan, L. P., & Geng, L. N. (2024) · Journal of Asian Health · doi:10.59448/jah.v4i1.59 · Cited by 3 · see citing works
Lei, C., Zuo, Y., Kong, F., Chen, H., Cheng, H., Song, X., Zhang, L., & Zhou, H. (2025) · Journal of Global Health · doi:10.7189/jogh.15.03005 · Cited by 3 · see citing works
“These campaigns could include multilingual informational materials, community outreach programmes, and digital tools such as mobile apps for navigation and appointment scheduling [ 19 ].”
Abo-Zaid, G., Al‐Omar, H. A., Alrabiah, A., Alomary, H., & McKnight, A. J. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1595967 · Cited by 3 · see citing works
Lawal, O. P., Orobator, E. T., Dorcas, S. I., Ezeamii, V. C., Foster-Pagaebi, E., & Attahiru, M. (2025) · Journal of Life Science and Public Health · doi:10.69739/jlsph.v1i1.538 · Cited by 3 · see citing works
Access in the rare diseases landscape
Jonker, A. H., Cavaller-Bellaubi, M., Nishimura, Y., & Pearce, D. A. (2024) · The Lancet Global Health · doi:10.1016/s2214-109x(24)00341-3 · Cited by 3 · see citing works
Yahya, D., Stoyanova, M., Hachmeriyan, M., & Levkova, M. (2025) · Egyptian Pediatric Association Gazette · doi:10.1186/s43054-025-00344-z · Cited by 2 · see citing works
“Another key part of the usual process is much-needed advanced multidisciplinary collaboration [5].”
Hernández‐Rodríguez, J., Martínez‐Valle, F., Acebes, X., Alerany, C., Antón, J., Calvo, G., Corral, M., Cruz, J., Mangues, M. A., Mateo, J., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03518-x · Cited by 2 · see citing works
“In fact, it is estimated that a PLWRD in Europe spends between 5 to 30 years to obtain a diagnosis, a quarter of patients need to travel to a different region to be diagnosed, and more than 40% of them are misdiagnosed multiple times [10].”
InfluentialVenture philanthropy in rare disease therapy
Levine, J. (2025) · Rare · doi:10.1016/j.rare.2025.100099 · Cited by 2 · see citing works
Obeagu, E. I. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000003553 · Cited by 2 · see citing works
“Without reliable data, healthcare systems struggle to develop targeted strategies to tackle leukemia effectively [ 56 , 57 ] .”
Coca, J. R., Gómez, N. P., Díaz, A. P., Caramés-Vila, N., Vilas, E. F., Redondo, S. G., & Sánchez, J. A. R. (2025) · Humanities and Social Sciences Communications · doi:10.1057/s41599-025-05597-y · Cited by 2 · see citing works
“Currently, only a few countries consider a broader set of dimensions that are relevant from a health policy perspective, capturing aspects of vulnerability and socioeconomic impact (Adachi et al., 2023).”
Clinical Status, Treatment, and Disease Burden of Generalised Myasthenia Gravis in the Asia–Pacific
Webb, T., Kasahara‐Kiritani, M., Herr, K. J., Yu, D. Y., Lee, B., Barlow, S. G., Birija, S. L., Conyers, J., Connolly, H., Gibson, G. A., et al. (2025) · Neurology and Therapy · doi:10.1007/s40120-025-00845-4 · Cited by 2 · see citing works
Decoding Genetic Disease Through the Skin: Lessons From the UDN
Sivadas, A., Moore, K., Ezell, K. M., McMinn, A., Furuta, Y., Bunick, C. G., Cassini, T. A., Hamid, R., Phillips, J. A., Undiagnosed Disease Network, et al. (2026) · International Journal of Dermatology · doi:10.1111/ijd.70247 · Cited by 2 · see citing works
Spreafico, A. M. C., Neri, L., Angel, K., Bellettato, C. M., & Scarpa, M. (2026) · Journal of Medical Internet Research · doi:10.2196/73612 · Cited by 2 · see citing works
“They exemplify rare, chronic, and multisystem diseases that require coordinated, longitudinal, multispecialty care [1-4].”
Self-citationAging and rare diseases: from epidemiology to a call to action
Mazzucato, M., Fanton, G., Vianello, A., Minichiello, C., Pozza, L. V. D., Toto, E., Pastori, L., Ceolin, C., RUI, M. D., Coin, A., et al. (2026) · European Geriatric Medicine · doi:10.1007/s41999-025-01351-4 · Cited by 2 · see citing works
Bennett, L., & Officer, T. N. (2026) · Health Expectations · doi:10.1111/hex.70668 · Cited by 2 · see citing works
“Formal recognition may further support recognition of PLWRD and carer rare disorders clinical practice expertise, without the need for patients to feel required to fight for care without discrimination, something that should be a fundamental right [61, 62].”
Meressa, A., Girma, B., Negassa, T., Nigussie, G., Kassahun, M., Abdisa, N., Ashenef, S., Taye, S., Belitibo, D. B., Animaw, Z., et al. (2025) · The BRICS Health Journal · doi:10.47093/3034-4700.2025.2.1.53-68 · Cited by 2 · see citing works
Rarer dementias, limited options, and unaddressed needs
Cummings, J. L. (2023) · International Psychogeriatrics · doi:10.1017/s1041610223000431 · Cited by 2 · see citing works
Perolla, A., Çalliku, E., Cili, A., Caja, T., Pulluqi, P., & Ivanaj, A. (2024) · Cureus · doi:10.7759/cureus.52091 · Cited by 2 · see citing works
Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
Sáenz, S., Reyes, C., & Romero, V. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e28024 · Cited by 2 · see citing works
“In a different study, it is mentioned that many countries, including countries in Latin America, lack or have limited evidence of the economic impact of rare diseases [24].”
BackgroundFuller, M., Ireland, C. M., Zmora, R., & Jenkins, K. J. (2024) · Children · doi:10.3390/children11081008 · Cited by 1 · see citing works
“Within the rare disease community, larger systems of inequities exist, leading to less funding for research, patient organizations or foundations, policy initiatives, and other programs [24].”
BackgroundThe implications of waiving local clinical trials for drugs in India: a double-edged sword?
Seetharaman, R. (2024) · The Lancet Regional Health - Southeast Asia · doi:10.1016/j.lansea.2024.100501 · Cited by 1 · see citing works
Taruscio, D., Cicerchia, A., Ferrara, V., Scaletti, C., Seia, C., & Morricone, M. V. (2024) · Integrated science · doi:10.1007/978-3-031-64288-3_5 · Cited by 1 · see citing works
Approaches to reduce the uncertainty in the clinical efficacy of orphan drugs
Omelyanovskiy, V. V., Kutsev, S. I., Мухортова, П. А., Геннадиевна, Х. А., Slabikova, A. A., Ignatyeva, N. V., Александровна, К. А., Teptsova, Т. S., & Bogdanova, V. O. (2025) · Kachestvennaya Klinicheskaya Praktika = Good Clinical Practice · doi:10.37489/2588-0519-2024-4-82-96 · Cited by 1 · see citing works
Revolutionizing Healthcare: Innovations in Medical Devices for Diagnosis and Treatment
Habo, A. S., Al-Shwekhi, M. M. L., Hussein, M. M., Jawad, R. A., Shamkhi, A. N., & Ardanel, A. M. (2025) · Bright Sky Publications eBooks · doi:10.62906/bs.book.312 · Cited by 1 · see citing works
Expediting the integration of China into the global rare disease drug development and approval
Ding, J., Huang, H., Wang, Y., Hou, Y., Zhao, G., Cai, Y., Wang, S., Zhang, X., & Li, N. (2025) · 中国科学通报：英文版 · doi:10.1016/j.scib.2025.04.036 · Cited by 1 · see citing works
Advancing Narcolepsy Advocacy: Bridging Patient Narratives and Systemic Change
Bahammam, A., Jesteadt, L., Dhafar, H. O., & Sharafkhaneh, A. (2025) · Nature and Science of Sleep · doi:10.2147/nss.s537298 · Cited by 1 · see citing works
Bryzik, A., Larysz, D., Larysz, P., Karpierz, J. I., & Paprocka, J. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1622185 · Cited by 1 · see citing works
Merchán-Arjona, R., Velarde‐García, J. F., del Cerro, E. P., & Monroy, A. M. (2025) · Nursing Reports · doi:10.3390/nursrep15080271 · Cited by 1 · see citing works
“These conditions emphasize the need to establish emergency protocols and specialized support networks [48,49].”
Advances in Cell and Gene Therapy for Rare Disease Treatment
Baek, H. J., Nam, Y., Rim, Y. A., & Ju, J. H. (2025) · International Journal of Stem Cells · doi:10.15283/ijsc25028 · Cited by 2 · see citing works
“Recruiting sufficient patients with rare genetic diseases to participate in clinical trials can be difficult because their number is small, and the diseases may be geographically dispersed (88).”
Standardizing rare disease data in Brazil: a Delphi-based approach for the First National Registry
Bernardi, F. A., Komoto, T. T., Vinci, A. L. T., Seixas, M. D. S., Lorea, C. F., de Oliveira, B. M., Yamada, D. B., Félix, T. M., Alves, D., & Raras Network Group (2025) · Journal of Rare Diseases · doi:10.1007/s44162-025-00123-9 · Cited by 1 · see citing works
Pflock, S., Mücke, H. C., Somasundaram, R., & Diehl-Wiesenecker, E. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04111-6 · Cited by 1 · see citing works
Model-Based Economic Analyses of Haemophilia from a Societal Perspective: A Scoping Review
El-Sayed, A. A., & Bolous, N. S. (2025) · PharmacoEconomics - Open · doi:10.1007/s41669-025-00618-7 · Cited by 1 · see citing works
“Second, HTA agencies should advocate for developing comparable, reliable, and consistent economic studies to facilitate informed reimbursement decisions and promote equitable access to treatment for people with haemophilia [76, 77].”
Adverse events experienced by people living with chronic rare diseases: A scoping review
Kwaan, L., Aldous, C. M., & Malherbe, H. L. (2025) · Rare · doi:10.1016/j.rare.2025.100116 · Cited by 1 · see citing works
Regenerative Medicine in China: Current Regulatory Challenges and Global Advancements
Wang, M., & Du, L. (2025) · Collaborative bioethics · doi:10.1007/978-3-032-07289-4_10 · Cited by 1 · see citing works
Golestaneh, L., Ames, E. G., Doyle, M. H., Ghossein, C., Grimm, P. C., Hewlett, J. L., Lim, A., Marzinelli, L. S., Schmidt, K. J., Smeryage, B., et al. (2025) · Kidney International Reports · doi:10.1016/j.ekir.2025.103735 · Cited by 1 · see citing works
“59 Recent data from the North American Pediatric Renal Trials and Collaborative Studies Cystinosis Registry reported that 42% of the 72 children and young adults surveyed live farther than 50 miles from their care center, with another 26% living 20 to 50 miles away, highlighting a significant…”
Ewans, L., Pierce, K., Farley, E., Bowden, R., Shalhoub, C., & Palmer, E. E. (2025) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.70267 · Cited by 1 · see citing works
Australia’s top 10 rare disease research priorities: a priority setting partnership
Sivaramakrishnan, H., Reilly, M., Jaffe, A. B., Baynam, G., Helwani, F., McKenzie, A., & Finlay-Jones, A. (2026) · Journal of Rare Diseases · doi:10.1007/s44162-026-00146-w
“Rare disease can also have an impact on families who may experience significant caregiver burden and poor financial stability [1, 12].”
- Authors
- Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M., & Wattanasirichaigoon, D.
- Affiliations
- Keio University (JP)
- Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates
- Nanyang Technological University (SG)
- Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico
- Health Technology Assessment Unit, Cancer Research Department, Arturo López Perez Foundation, Santiago 7500921, Chile
- University of Udine (IT)
- National Institutes of Health (US)
- Mahidol University (TH)
- ORCID
- Venue
- International Journal of Environmental Research and Public Health
- Publisher
- MDPI AG
- Published
- 2023-03-08
- Volume
- 20
- Issue
- 6
- Pages
- 4732
- ISSN
- 1660-4601 (ISSN-L)
- PMC
- PMC10049067
- OpenAlex
- W4323568260
- Cited by
- 168
- References
- 103
- Citations by year
- 2026: 47 · 2025: 70 · 2024: 42 · 2023: 9
- FWCI
- 6.44
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Environmental Research and Public Health (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DR-NTU (Nanyang Technological University) (submittedVersion, cc-by)
- Funders
- Takeda Pharmaceutical Company Limited
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Pharmaceutical Economics and Policy
- Health Sciences › Medicine › Physiology › Biomedical Ethics and Regulation
- Keywords
- rare diseases, access to treatment, health policy, regulatory framework, disease burden, patient journey, disease management, barriers to care, patient advocacy
- MeSH terms
- Health Policy, Humans, Rare Diseases
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