PUBLICATIONS

Publications on Orphan Drugs

  1. Mo, Q, He, J, Guo, Q, Yang, Y. Drug lag and associated factors of orphan drugs approved by the U.S. in China. Front Pharmacol. 2025;16 :1595497. doi: 10.3389/fphar.2025.1595497. PubMed PMID:40949125 PubMed Central PMC12425770.
  2. Dieu, DC, Pernice, HF, Muratovic, H, Wetzel, PJ, Barzen, G, Wieder, NW et al.. Real-world treatment management in hereditary transthyretin amyloidosis - an experience report and proposal for therapy switch decision criteria. Neurol Res Pract. 2025;7 (1):65. doi: 10.1186/s42466-025-00428-6. PubMed PMID:40940654 PubMed Central PMC12432994.
  3. Valinejad, J, Xu, Y, Zhu, Q. An application of studying FAERS data to Enhance Drug Safety and Treatment Outcomes in Rare Diseases. Proceedings (IEEE Int Conf Bioinformatics Biomed). 2024;2024 :4575-4578. doi: 10.1109/bibm62325.2024.10822513. PubMed PMID:40933844 PubMed Central PMC12419809.
  4. Basu, A, Thomas, SK, Chapman, RH, Spangler, J. HTA Evidence in Rare Diseases: Just Rare or Also Special?. Pharmacoeconomics. 2025; :. doi: 10.1007/s40273-025-01538-4. PubMed PMID:40924270 .
  5. Papadopoulos, F, Visintin, E, Kyriopoulos, I, Kanavos, P. Why drugs fail health technology assessment: a comparative analysis of health technology assessment rejections across seven OECD countries. Health Econ Policy Law. 2025;20 (3):264-283. doi: 10.1017/S1744133125100212. PubMed PMID:40922553 .
  6. Han, Y, Zhuo, Q, Chen, N, Zhang, H, Lin, L, Song, P et al.. Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China. Intractable Rare Dis Res. 2025;14 (3):151-161. doi: 10.5582/irdr.2025.01039. PubMed PMID:40904638 PubMed Central PMC12403912.
  7. Costa, E, Ajith, V, Al Khaldi, AF, Isgrò, A, Lee, KJ, Luigetti, R et al.. Addressing global regulatory challenges in rare disease drug development. Drug Discov Today. 2025;30 (10):104462. doi: 10.1016/j.drudis.2025.104462. PubMed PMID:40889637 .
  8. Timsit, JF, Ling, L, de Montmollin, E, Bracht, H, Conway-Morris, A, De Bus, L et al.. Antibiotic therapy for severe bacterial infections. Intensive Care Med. 2025; :. doi: 10.1007/s00134-025-08063-0. PubMed PMID:40888899 .
  9. Baek, HJ, Nam, Y, Rim, YA, Ju, JH. Advances in Cell and Gene Therapy for Rare Disease Treatment. Int J Stem Cells. 2025; :. doi: 10.15283/ijsc25028. PubMed PMID:40887306 .
  10. Jung, MS, Choi, WY, Zhang, W, Barrera, FN, Perkins, RS. The Role of Receptor Tyrosine Kinase-like Orphan Receptor 1 (ROR1) in Cancer Stem Cell Signaling. Int J Mol Sci. 2025;26 (16):. doi: 10.3390/ijms26167828. PubMed PMID:40869147 PubMed Central PMC12386924.
  11. Anguera, G, Gallego, O, Llobet, M, Berga, N, Moreno-Martinez, ME, Leon, X et al.. Opening of a phase Ib/II study to investigate the safety and efficacy of Afatinib in patients with Fanconi anemia and unresectable locally advanced or metastatic head and neck squamous cell carcinoma. BMC Cancer. 2025;25 (1):1374. doi: 10.1186/s12885-025-14619-6. PubMed PMID:40859225 PubMed Central PMC12379517.
  12. Fluck, C. [Gene therapy methods for rare ophthalmological diseases in the light of distributional justice-An overview]. Ophthalmologie. 2025; :. doi: 10.1007/s00347-025-02308-5. PubMed PMID:40864185 .
  13. Gleeson, D, Chapman, S, McAteer, H, Qin, A, Gregory, J, Pizzato, J et al.. Janus kinase inhibitors in palmoplantar pustulosis: a mixed-methods feasibility (JAKPPPOT) trial protocol. BMJ Open. 2025;15 (8):e106361. doi: 10.1136/bmjopen-2025-106361. PubMed PMID:40840981 PubMed Central PMC12374624.
  14. Sajwani, N, Suchitha, GP, Keshava Prasad, TS, Dagamajalu, S. Drug repurposing in oncology: a path beyond the bottleneck. Med Oncol. 2025;42 (10):443. doi: 10.1007/s12032-025-02994-w. PubMed PMID:40849858 .
  15. Palandri, F, Branzanti, F, Bonifacio, M, Elli, EM, Morsia, E, Farina, M et al.. Revised "iRR6" model in intermediate-1 risk myelofibrosis patients treated with ruxolitinib. Cancer. 2025;131 (17):e70062. doi: 10.1002/cncr.70062. PubMed PMID:40839414 PubMed Central PMC12369922.
  16. Bassi, I, Jabali, A, Levin, L, Lambiase, G, Moshe, N, Farag, N et al.. A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA). J Exp Med. 2025;222 (11):. doi: 10.1084/jem.20240513. PubMed PMID:40838953 .
  17. Li, N, Yan, L, Peng, A, Fu, X, Qin, H, Yao, K et al.. Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions. Neural Regen Res. 2025; :. doi: 10.4103/NRR.NRR-D-25-00260. PubMed PMID:40808385 .
  18. Stacchiotti, S, Pantziarka, P, Leonard, H, Voltz, C, Abatedaga, L, Bouche, G et al.. How to foster new treatment development in ultra-rare tumours? Joint EMA-EORTC multi-stakeholder workshops on ultra-rare sarcomas as a model for rare cancers. Cancer Treat Rev. 2025;140 :103003. doi: 10.1016/j.ctrv.2025.103003. PubMed PMID:40789252 .
  19. Sitbon, O, Sahay, S, Escribano Subías, P, Zolty, RL, Kingrey, JF, Ryan, JJ et al.. Seralutinib for the Treatment of Pulmonary Arterial Hypertension in Adults: TORREY Open-Label Extension Study. Adv Ther. 2025; :. doi: 10.1007/s12325-025-03297-2. PubMed PMID:40788460 .
  20. Knox, RP, Sarpatwari, A. Legal challenges to the 340B drug pricing program: administration, regulation, and reform. Health Aff Sch. 2025;3 (8):qxaf125. doi: 10.1093/haschl/qxaf125. PubMed PMID:40765838 PubMed Central PMC12319670.
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