PUBLICATIONS

Publications on Orphan Drugs

  1. Alfaqeeh, M, Suwantika, AA, Postma, MJ, Putra, RA, Aisyah, JR, Rahayu, FP et al.. Economic Evaluations of Orphan Drugs for Rare Kidney Diseases in Low- and Middle-Income Countries: A Bibliometric Systematic Review with Policy and Evidence Gaps Analysis. Value Health. 2025; :. doi: 10.1016/j.jval.2025.12.008. PubMed PMID:41453685 .
  2. Wang, S, Liu, X, Zou, Y, Tang, Y, Zuo, W, Jiang, R et al.. Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022. Orphanet J Rare Dis. 2025; :. doi: 10.1186/s13023-025-04175-4. PubMed PMID:41430297 .
  3. Zhang, Y, Li, J, Liu, H, Xia, H, Su, J, Liu, F et al.. DADS Regulates EMT and Chemotherapy Resistance by Inhibiting RORα/β-Catenin Signaling through PKCα-Dependent Phosphorylation in Gastric Cancer. Oncol Res. 2025;33 (12):3869-3886. doi: 10.32604/or.2025.068689. PubMed PMID:41425709 PubMed Central PMC12712668.
  4. Lieve, KV, van der Werf, C, Kallas, D, Denjoy, I, Bos, JM, Aiba, T et al.. Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification. Eur Heart J. 2025; :. doi: 10.1093/eurheartj/ehaf965. PubMed PMID:41416846 .
  5. Yogeswaran, A, Annis, JS, Fünderich, M, Wilhelm, J, Kiely, DG, Howard, L et al.. Male survival disadvantage in pulmonary hypertension: independent of aetiology, age, disease severity, comorbidities and treatment. EBioMedicine. 2025;123 :106063. doi: 10.1016/j.ebiom.2025.106063. PubMed PMID:41406504 .
  6. Tam, NT, Sayed, AM, Dadam, MN, Elsheikh, R, Aziz, JMA, Gad, AG et al.. Regulatory alignment in FDA expedited pathways for infectious diseases: a decadal review with predictive modeling insights. Sci Rep. 2025; :. doi: 10.1038/s41598-025-30452-0. PubMed PMID:41390829 .
  7. Poddar, A, Innes, GK, Liu, Q, Saha, A, Hanger, M, Franzetti, K et al.. Mitigating Limited Data Challenges to Improve Artificial Intelligence Integration in Rare Disease Drug Development. NEJM AI. 2025;2 (12):. doi: 10.1056/AIp2500802. PubMed PMID:41383221 PubMed Central PMC12690552.
  8. Jiwani, B. From Justification to Legitimacy: A Deliberative Framework for Decisions Around Expensive Drugs for Rare Diseases. J Inherit Metab Dis. 2026;49 (1):e70126. doi: 10.1002/jimd.70126. PubMed PMID:41370849 .
  9. Delcroix, M, Lang, IM, D'Armini, AM, Fadel, E, Guth, S, Hoole, SP et al.. Long-term effects of medical treatment in patients with chronic thromboembolic pulmonary hypertension. ERJ Open Res. 2025;11 (6):. doi: 10.1183/23120541.00769-2025. PubMed PMID:41367646 PubMed Central PMC12683553.
  10. Samowitz, P, Radnai, L, Vaissiere, T, Michaelson, SD, Rojas, C, Mitchell, R et al.. The Endo-GeneScreen platform identifies drug-like probes that regulate endogenous protein levels within physiological contexts. Nat Commun. 2025;16 (1):10970. doi: 10.1038/s41467-025-65971-x. PubMed PMID:41366089 PubMed Central PMC12689758.
  11. Douglas, CMW, Kleinhout-Vliek, T, Hagendijk, R, Rabeharisoa, V, Boon, W, Aith, F et al.. How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases. Orphanet J Rare Dis. 2025;20 (1):618. doi: 10.1186/s13023-025-04132-1. PubMed PMID:41361762 PubMed Central PMC12683803.
  12. Doernberg, H, Wallach, JD, Jeffery, MM, Mooghali, M, Ramachandran, R, Ross, JS et al.. Postmarket Drug Safety-Related Actions Before and After the US Food and Drug Administration Amendments Act. JAMA Intern Med. 2025; :. doi: 10.1001/jamainternmed.2025.6566. PubMed PMID:41359349 PubMed Central PMC12687201.
  13. Frost, J, Widening Engagement Patient Advisory Group, Mandizha, J, van den Dungen, C, Asare, L, Pope, C et al.. Can the Development of Orphan Drugs Include Wider Patient Engagement? A Citizens' Jury to Explore a Promissory Notion. Health Expect. 2025;28 (6):e70524. doi: 10.1111/hex.70524. PubMed PMID:41347535 PubMed Central PMC12679173.
  14. Parker, S, El Hajjar, J, Jonker, AH, Kahn, SR, Kritikou, P, Kyriakopoulou, C et al.. Non-oncology orphan drug development: Productivity and probability of success. Drug Discov Today. 2025;31 (1):104568. doi: 10.1016/j.drudis.2025.104568. PubMed PMID:41344392 .
  15. Oliveira, BA, Torres, A, Ricci-Júnior, E, Almeida, IF, Monteiro, MSSB. Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review. Pharmaceuticals (Basel). 2025;18 (11):. doi: 10.3390/ph18111762. PubMed PMID:41305004 PubMed Central PMC12655290.
  16. Hu, C, Dong, J, Yuan, J, Shang, S, Zhai, X, Wen, Y et al.. Effect of Brassinolide on the Growth and Physiological Indicators of Foxtail Millet Under Cyhalofop-Butyl Damage. Plants (Basel). 2025;14 (22):. doi: 10.3390/plants14223421. PubMed PMID:41304572 PubMed Central PMC12656274.
  17. Marcellusi, A, Cazzato, D, Guarnotta, G, Aiello, A, Bonfanti, M, Bitonti, R et al.. Horizon scanning and drug expenditure for rare diseases: three-year predictive model in Italy 2025-2027. Health Econ Rev. 2025; :. doi: 10.1186/s13561-025-00699-4. PubMed PMID:41296238 .
  18. Grynblat, J, Hlavaty, A, Savale, L, Weatherald, J, Le Bozec, A, Aguado, B et al.. Drugs and toxins associated with pulmonary arterial hypertension: from established culprits to novel threats. ERJ Open Res. 2025;11 (6):. doi: 10.1183/23120541.00382-2025. PubMed PMID:41293777 PubMed Central PMC12643032.
  19. Mooney, H, Kesselheim, AS, Rome, BN. US spending on high-revenue rare disease drugs in 2022. Am J Manag Care. 2025;31 (11):e329-e335. doi: 10.37765/ajmc.2025.89823. PubMed PMID:41289291 .
  20. Pan, I, Lin, C, Palestine, AG, Edwards Mayhew, RG, Jung, JL. Use of Tacrolimus for the Treatment of Pediatric Noninfectious Uveitis. Ophthalmol Ther. 2025; :. doi: 10.1007/s40123-025-01275-z. PubMed PMID:41275437 .
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