PUBLICATIONS

Publications on Orphan Drugs

  1. Martin, P, Ding, J, Hanchard, M. Why is the pharmaceutical industry investing in targeted therapies? The emergence of "premium pharma". Soc Sci Med. 2025;392 :118888. doi: 10.1016/j.socscimed.2025.118888. PubMed PMID:41548522 .
  2. Hong, EH, Hyeong, J, Ahn, JH, Han, Y, Kim, S, Kim, SM et al.. Limosilactobacillus reuteri alleviates psoriasis via aryl hydrocarbon receptor-mediated regulation of Interkeukin-17A. Int Immunopharmacol. 2026;172 :116194. doi: 10.1016/j.intimp.2026.116194. PubMed PMID:41548440 .
  3. Minder, AE, Barman-Aksözen, J. From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria. JAAD Case Rep. 2026;68 :6-8. doi: 10.1016/j.jdcr.2025.11.022. PubMed PMID:41542313 PubMed Central PMC12800419.
  4. Havlik, J, Isaac, S, Radovan, C, Ostacher, MJ, Smith, D, Rhee, TG et al.. Innovation in Psychiatric Drug Development: A Quantitative Analysis of FDA-Approved Psychiatric Drugs, 2012-2024. J Clin Psychiatry. 2026;87 (1):. doi: 10.4088/JCP.25m16063. PubMed PMID:41532845 .
  5. Avxentyev, NA, Makarov, AS, Germanenko, OY, Vlodavets, DV, Kuzenkova, LM. [Pharmacoeconomic evaluation of spinal muscular atrophy therapy in patients with four SMN2 copies diagnosed through newborn screening]. Zh Nevrol Psikhiatr Im S S Korsakova. 2025;125 (12):188-199. doi: 10.17116/jnevro2025125121188. PubMed PMID:41524367 .
  6. Khalifa, A, Malden, DE, Ratmann, O, Chen, Y, Grabowski, MK, Chang, LW et al.. Incidence and prevalence of orphanhood in Rakai, Uganda: a population-based cohort study, 1995-2022. Lancet Glob Health. 2026;14 (2):e251-e260. doi: 10.1016/S2214-109X(25)00440-1. PubMed PMID:41519154 .
  7. Auernhammer, CJ, Wang, K, Maccio, U, Knösel, T, Hungbauer, MP, Schilbach, K et al.. Personalized drug screening and risk assessment in patient-derived gastroenteropancreatic neuroendocrine neoplasms. J Clin Endocrinol Metab. 2026; :. doi: 10.1210/clinem/dgaf705. PubMed PMID:41518601 .
  8. Lippi, D, Varotto, E, Galassi, FM, Baldanzi, F. Understanding and teaching rare diseases: from historical origins to modern classification. Postgrad Med J. 2026; :. doi: 10.1093/postmj/qgaf191. PubMed PMID:41518138 .
  9. Reid, B, Cohen, JT, Lin, PJ, Neumann, PJ. Communication of launch prices by drug companies, 2022-2024. Am J Manag Care. 2025;31 (12):e351-e352. doi: 10.37765/ajmc.2025.89838. PubMed PMID:41512263 .
  10. Walraven, J, Kaveh, M, Uyl-de Groot, C. Methodological challenges in Dutch HTA of non-oncological orphan drugs: a retrospective analysis and price comparison using different pricing models. Orphanet J Rare Dis. 2026; :. doi: 10.1186/s13023-025-04181-6. PubMed PMID:41501932 .
  11. Höger, P, Ries, M, Olivares Rivera, A, Ersöz, H, Buschulte, K, Fähndrich, S et al.. Advances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMA. Ther Adv Respir Dis. 2026;20 :17534666251411227. doi: 10.1177/17534666251411227. PubMed PMID:41499187 PubMed Central PMC12779913.
  12. Perlstein, I, Cherniakov, I, Elgart, A, Gomeni, R, Gutman, D, Merenlender Wagner, A et al.. Population Pharmacokinetic Model-Based Dose Selection of Extended-Release Injectable Olanzapine (TV-44749) for Subcutaneous Use in Phase 3 Clinical Trial in Adults with Schizophrenia. J Clin Pharmacol. 2026;66 (1):e70144. doi: 10.1002/jcph.70144. PubMed PMID:41496255 PubMed Central PMC12775547.
  13. 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 .
  14. 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 .
  15. 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 .
  16. 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 .
  17. 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.
  18. 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.
  19. 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 .
  20. 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.
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