PUBLICATIONS

Publications on Orphan Drugs

  1. Goto, R, Sengoku, S, Kodama, K. [Programmed Medical Device (SaMD) and Orphan Drug Innovation Processes and Industrial Systems]. Yakugaku Zasshi. 2026;146 (1):35-46. doi: 10.1248/yakushi.25-00140-3. PubMed PMID:41485960 .
  2. Kodama, K. [Current Status of Drug Lag in Rare Disease Treatment and a Multifaceted Approach to Resolving It]. Yakugaku Zasshi. 2026;146 (1):25-34. doi: 10.1248/yakushi.25-00140-2. PubMed PMID:41485959 .
  3. Enya, K. [Increasing Orphan Drug Loss in Japan: Trends and R&D Strategy for Rare Diseases]. Yakugaku Zasshi. 2026;146 (1):15-24. doi: 10.1248/yakushi.25-00140-1. PubMed PMID:41485958 .
  4. Santamaria, X, Pardo-Figuerez, M, González-Fernández, J, Querol, S, Rodríguez, L, Valcárcel, D et al.. Autologous cell therapy with CD133+ bone marrow-derived stem cells for Asherman Syndrome: a phase 1/2 trial. Nat Commun. 2026; :. doi: 10.1038/s41467-025-67850-x. PubMed PMID:41484096 .
  5. Huang, X, Lin, S, Lin, R, Luo, S, Huang, P, Zeng, D et al.. Inavolisib-Based Therapy for PIK3CA-Mutated Advanced Male Breast Cancer: A Cost-Effectiveness Analysis. Breast Cancer (Dove Med Press). 2025;17 :1385-1396. doi: 10.2147/BCTT.S566088. PubMed PMID:41480371 PubMed Central PMC12753842.
  6. Kitahara, K, Kano, S. Assessing rare disease understanding: a novel disease readiness level framework. Orphanet J Rare Dis. 2025;20 (1):628. doi: 10.1186/s13023-025-04135-y. PubMed PMID:41466293 PubMed Central PMC12751994.
  7. Sharma, R, Gulati, A, Chopra, K. Accelerated approvals in oncology: Trial design strategies and insights driving successful regulatory outcomes across three decades. Int J Cancer. 2025; :. doi: 10.1002/ijc.70317. PubMed PMID:41460153 .
  8. Awada, N, Varughese, A. From care to cure: a patient engagement framework for rare disease and orphan drug research. Ther Adv Rare Dis. 2025;6 :26330040251404519. doi: 10.1177/26330040251404519. PubMed PMID:41459352 PubMed Central PMC12739095.
  9. 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 .
  10. 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;20 (1):635. doi: 10.1186/s13023-025-04175-4. PubMed PMID:41430297 PubMed Central PMC12750715.
  11. 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.
  12. 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 .
  13. 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 PubMed Central PMC12768861.
  14. 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 .
  15. 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.
  16. 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 .
  17. 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.
  18. 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.
  19. 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.
  20. 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.
Search PubMed