PUBLICATIONS

Publications on Orphan Drugs

  1. Monroy, S, González-Zamora, JF. Acute hepatic porphyrias in Mexico: A tale of challenges and achievements facing rare diseases. Mol Genet Metab. 2026;149 (1-2):110206. doi: 10.1016/j.ymgme.2026.110206. PubMed PMID:42468372 .
  2. Jairath, V, Kierkuś, J, Duvall, GA, Danese, S, Sands, BE, Ratiu-Duma, B et al.. Efficacy and safety of duvakitug in patients with Crohn's disease (RELIEVE UCCD): a phase 2b, randomised, placebo-controlled trial. Lancet Gastroenterol Hepatol. 2026; :. doi: 10.1016/S2468-1253(26)00119-6. PubMed PMID:42462749 .
  3. Wani, S, Alsabti, H, Allamki, S, Almandhari, A, Alhajji, S, Alrashdi, I et al.. Establishing multiple cost-effectiveness thresholds in Oman: a stakeholder-driven approach. Health Econ Rev. 2026; :. doi: 10.1186/s13561-026-00817-w. PubMed PMID:42455234 .
  4. Yao, S, Yang, X, Ren, M, Zhang, H, Yu, S, Chen, T et al.. AI-powered therapeutic aptamer drug discovery: Targeting the CT-domain of CTGF for duchenne muscular dystrophy. Acta Pharm Sin B. 2026;16 (7):4552-4574. doi: 10.1016/j.apsb.2026.02.016. PubMed PMID:42453419 PubMed Central PMC13366227.
  5. Czarniak, P, Moorin, R, Hughes, J, Gruber, K, Youens, D. Medications That Regulate Pregnane X Receptor: A Systematic Review of Current Evidence. Pharmacol Res Perspect. 2026;14 (4):e70288. doi: 10.1002/prp2.70288. PubMed PMID:42444583 PubMed Central PMC13366386.
  6. Price, LC, Zeder, K, Prisco, SZ. Highlights of the 2026 Pulmonary Vascular Research Institute Conference: Celebrating 20 Years of Progress and Innovation. Pulm Circ. 2026;16 (2):e70275. doi: 10.1002/pul2.70275. PubMed PMID:42428586 PubMed Central PMC13348226.
  7. Phan, ND, Sharma, RR, Subramanian, S, Kartha, RV. Extracellular vesicles as minimally invasive biomarkers and therapeutic platforms in rare neurological diseases. Front Aging. 2026;7 :1813553. doi: 10.3389/fragi.2026.1813553. PubMed PMID:42421744 PubMed Central PMC13341616.
  8. Ding, J, Hopkins, MM, Martin, PA. Discordance in orphan drug approvals between the U.S. Food and Drug Administration and the European Medicines Agency: A retrospective observational analysis. PLoS Med. 2026;23 (7):e1004861. doi: 10.1371/journal.pmed.1004861. PubMed PMID:42406834 PubMed Central PMC13375132.
  9. Zhang, B, Li, Z, Li, D, Xiang, Z, Huo, G, Shi, C et al.. Discovery of N-(6-Acetylpyridin-3-yl)-2-(4-(ethylsulfonyl)phenyl)acetamide derivatives as a novel series of selective RORγt antagonists. Eur J Med Chem. 2026;317 :119106. doi: 10.1016/j.ejmech.2026.119106. PubMed PMID:42398399 .
  10. Wu, J, Sato, D, Suh, HS, Hsiao, FY, Li, H. Real-World Evidence in Asian Health Technology Assessment: Evolving Roles, Practices, and Future Directions (2015-2024). Value Health Reg Issues. 2026; :101645. doi: 10.1016/j.vhri.2026.101645. PubMed PMID:42390419 .
  11. Arora, R, Ahuja, N, Kumawat, S, Kaushal, V, Sharma, R, Gupta, P et al.. Integrated approaches to target nuclear receptors for managing the co-morbidity of tuberculosis and diabetes. Front Immunol. 2026;17 :1824354. doi: 10.3389/fimmu.2026.1824354. PubMed PMID:42358946 PubMed Central PMC13291132.
  12. Lund, LH, Barandiarán Aizpurua, A, Bollano, E, Braun, O, Brouwer, JLP, Buikema, JW et al.. Safety, pharmacokinetics, and exploratory efficacy of the oral ghrelin receptor agonist AC01 in heart failure with reduced ejection fraction (GOAL-HF1): a randomised, double-blind, placebo-controlled, phase 1b/2a study. Lancet. 2026;408 (10551):248-262. doi: 10.1016/S0140-6736(26)00904-9. PubMed PMID:42341796 .
  13. Wu, Y, Chen, J, Shao, J, Peng, H, Li, L, Chen, G et al.. What Drives Public Preference for Rare Drugs Coverage in China? Insights From a Multi-Center Discrete Choice Experiment. Health Expect. 2026;29 (4):e70735. doi: 10.1111/hex.70735. PubMed PMID:42340083 PubMed Central PMC13292014.
  14. Hirano, M, Garone, C, Haas, R, Paradas, C, Scaglia, F, Rebollo Mesa, I et al.. Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency. Brain Commun. 2026;8 (3):fcag201. doi: 10.1093/braincomms/fcag201. PubMed PMID:42318512 PubMed Central PMC13273412.
  15. Singh, S, Singh, R, Sharma, S. Navigating the uncharted: AI-driven advances in protein structure, dynamics, interactions and ligand interactions for understudied families. BioData Min. 2026; :. doi: 10.1186/s13040-026-00577-7. PubMed PMID:42310771 .
  16. Andriantafika, G, Janssen, H, Balkowiec-Iskra, E, Gartner, C, Sepodes, B, Van der Schueren, B et al.. From complexity to approval in the European Union: Regulatory pathways and data challenges in the evaluation of non-oncology orphan medicines. Drug Discov Today. 2026;31 (4):104715. doi: 10.1016/j.drudis.2026.104715. PubMed PMID:42303175 .
  17. Morihisa, K, Yoshitsugu, H, Wakuda, H, Uemura, N. Utilization of Healthy Volunteers in Oncology Drug Development in Japan: A 10-Year Analysis of Approved Anticancer Agents (2014-2024). Clin Transl Sci. 2026;19 (6):e70626. doi: 10.1111/cts.70626. PubMed PMID:42298318 PubMed Central PMC13269011.
  18. Zhai, C, Wang, J, Xia, B, Guo, Y, Zhang, Y, Jiao, Y et al.. Awareness of Duchenne muscular dystrophy among medical staff in China: a multicenter cross-sectional survey. Front Pediatr. 2026;14 :1735961. doi: 10.3389/fped.2026.1735961. PubMed PMID:42290726 PubMed Central PMC13253694.
  19. Li, X, Qiao, S, Li, Z, Zhou, S, Wang, J, Wang, B et al.. Predicting protein-protein interaction sites based on dynamic perception mechanism within a hierarchical E(n)-equivariant graph. Brief Bioinform. 2026;27 (3):. doi: 10.1093/bib/bbag304. PubMed PMID:42289050 PubMed Central PMC13264840.
  20. Malherbe, HL, Odendaal, S, Kukava, A, Lucano, C. The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis. Orphanet J Rare Dis. 2026; :. doi: 10.1186/s13023-026-04444-w. PubMed PMID:42277930 .
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