PUBLICATIONS

Publications on Orphan Drugs

  1. GBD 2023 IHD & Dietary Risk Factors Collaborators. Global, regional and national burden of ischemic heart disease attributable to suboptimal diet, 1990-2023: a Global Burden of Disease study. Nat Med. 2026; :. doi: 10.1038/s41591-026-04250-8. PubMed PMID:41912805 .
  2. Hailemariam, A, Upadhyay, S, Oany, AR, Tsui, WNT, Srivastava, V, Sivaram, G et al.. Brewed Coffee and Its Components Act Through Orphan Nuclear Receptor 4A1 (NR4A1). Nutrients. 2026;18 (6):. doi: 10.3390/nu18060877. PubMed PMID:41901052 PubMed Central PMC13029766.
  3. Roesch, EW, Colpani, V, Dória, GAA, de Oliveira, KHD, Oliveira, C, Peixoto, HM et al.. Cost-Utility Analysis of the Treatment With Ataluren Plus Standard of Care Compared With Standard of Care Alone in Patients With Duchenne Muscular Dystrophy in Brazil. Value Health Reg Issues. 2026; :101623. doi: 10.1016/j.vhri.2026.101623. PubMed PMID:41885666 .
  4. McAllister-Williams, RH, Alva, G, Banov, M, Conway, CR, Cusin, C, De Beer, JC et al.. The Use of Vagus Nerve Stimulation (VNS) in the Management of Patients with Difficult-to-Treat Major Depressive Disorder (MDD): An Expert Consensus Statement. Neuropsychiatr Dis Treat. 2026;22 :554007. doi: 10.2147/NDT.S554007. PubMed PMID:41884079 PubMed Central PMC13008595.
  5. Guglielmelli, P, Breccia, M, Mendicino, F, Martelli, M, Di Renzo, N, Palumbo, GA et al.. Clinical Outcomes of Ruxolitinib Treatment in Patients With IPSS Intermediate-1-Risk Myelofibrosis: Interim Analysis From an Italian, Prospective Study (ROMEI). Hematol Oncol. 2026;44 (2):e70178. doi: 10.1002/hon.70178. PubMed PMID:41877599 PubMed Central PMC13014119.
  6. Beninger, P. Menkes Disease: Another Example of Progress in the Development of Pharmaceuticals for Rare Childhood Diseases, But Much Still Remains to Be Done. Clin Ther. 2026; :. doi: 10.1016/j.clinthera.2026.02.014. PubMed PMID:41876279 .
  7. Heling, LWHJ, Kovač, K, de Vries, CJM, Mashaghi, A. Modulation of Nur77-DNA interactions by the glucocorticoid receptor. Biochem J. 2026;483 (4):429-440. doi: 10.1042/BCJ20250293. PubMed PMID:41847979 .
  8. Rajasekharan, S, Barragan Torres, VA, Pinheiro Gomes, YC, Wilken, L, Overhoff, K, Lin, YC et al.. A genus-wide interaction atlas across NS4B orthologues identifies a conserved role for UFMylation in orthoflavivirus replication. Nat Commun. 2026;17 (1):. doi: 10.1038/s41467-026-70437-9. PubMed PMID:41826287 PubMed Central PMC12992610.
  9. Khan, MS, Borlaug, BA, Butler, J, Gomberg-Maitland, M, Humbert, M, Lam, CSP et al.. Pulmonary Hypertension Associated With Left Heart Disease: Challenges, Emerging Strategies, and Future Directions. J Am Coll Cardiol. 2026; :. doi: 10.1016/j.jacc.2026.01.024. PubMed PMID:41811276 .
  10. Kayki-Mutlu, G, Aksoyalp, ZS, Wojnowski, L, Michel, MC. A year in pharmacology: new drugs approved by the US food and drug administration in 2025. Naunyn Schmiedebergs Arch Pharmacol. 2026; :. doi: 10.1007/s00210-026-05193-0. PubMed PMID:41807809 .
  11. Manders, E, Keestra, S, Bannenberg, W, van der Wel, V, de Visser, S, Hollak, C et al.. A cost-based-plus pricing approach for repurposed tiratricol in the treatment of Allan-Herndon-Dudley syndrome. Orphanet J Rare Dis. 2026; :. doi: 10.1186/s13023-026-04269-7. PubMed PMID:41787529 .
  12. Papapetropoulos, A, Topouzis, S, Alexander, SPH, Cortese-Krott, MM, Helyes, Z, Martemyanov, K et al.. Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review. Br J Pharmacol. 2026; :. doi: 10.1111/bph.70376. PubMed PMID:41771767 .
  13. Baynam, G, Boycott, KM, Johnson, K, Mckay, L. Language in rare disease: a call for systemic and empathetic action. Lancet. 2026;407 (10535):1216-1218. doi: 10.1016/S0140-6736(26)00359-4. PubMed PMID:41765026 .
  14. Miri, M, Abuloha, S, Niu, S, Alshehri, A, Harvey, BP, Svensson, M et al.. Do U.S. cancer drug sales reflect clinical benefit? Evidence from solid tumor drugs from 2008 to 2022. J Cancer Policy. 2026;48 :100723. doi: 10.1016/j.jcpo.2026.100723. PubMed PMID:41763649 .
  15. Jeon, CW, Yoon, JH, Kim, JE. QbD-Based Formulation Development of Amiodarone Hydrochloride Tablet. Pharmaceutics. 2026;18 (2):. doi: 10.3390/pharmaceutics18020264. PubMed PMID:41755005 PubMed Central PMC12944620.
  16. Dorgó, AM, Gunkl-Tóth, L, Nagy, G. Pathogenic Drivers of Difficult-to-Treat Rheumatoid Arthritis: Synovium and Beyond. Int J Mol Sci. 2026;27 (4):. doi: 10.3390/ijms27041860. PubMed PMID:41751996 PubMed Central PMC12940380.
  17. Afonso, S, Gonçalves, J, Brinca, AT, Rosendo, LM, Rosado, T, Duarte, AP et al.. Cannabinoid Therapies in Less-Common Disorders: Clinical Evidence and Formulation Strategies. Diseases. 2026;14 (2):. doi: 10.3390/diseases14020083. PubMed PMID:41745121 PubMed Central PMC12939546.
  18. Piccaluga, PP, Cimmino, L, Tsekhovska, V, Cimatti, P, Innocenti, C, Seidenari, S et al.. From Cell Lines to Avatars: Charting the Future of Preclinical Modeling in T-Cell Malignancies. Cells. 2026;15 (4):. doi: 10.3390/cells15040368. PubMed PMID:41744811 PubMed Central PMC12939640.
  19. Li, Y, Liu, Z, Huang, R, Liu, Y. The imperative for national legislation on rare diseases in China: A policy review and call to action. Intractable Rare Dis Res. 2026;15 (1):4-10. doi: 10.5582/irdr.2025.01058. PubMed PMID:41744018 PubMed Central PMC12932008.
  20. Tang, W. From system building to global engagement: Current significance of and future directions for rare disease research in China. Intractable Rare Dis Res. 2026;15 (1):1-3. doi: 10.5582/irdr.2026.01015. PubMed PMID:41744017 PubMed Central PMC12932007.
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