PUBLICATIONS

Publications on Orphan Drugs

  1. 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.
  2. 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.
  3. 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.
  4. 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 .
  5. 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; :104715. doi: 10.1016/j.drudis.2026.104715. PubMed PMID:42303175 .
  6. 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.
  7. 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.
  8. 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.
  9. 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 .
  10. Shi, Q, Wang, G, Zhang, T, Zhao, Y, Meng, F, Feng, K et al.. Melatonin-Mediated Modulation of Polyamines Enhances Drought Tolerance in Foxtail Millet (Setaria italica L.). J Pineal Res. 2026;78 (4):e70157. doi: 10.1111/jpi.70157. PubMed PMID:42267978 .
  11. Andersen, DB, Albertsen, AB, Wadmann, S, Bech, M. Size Does Matter! Prioritizing Rare Diseases for Luck Egalitarian Reasons. Bioethics. 2026; :. doi: 10.1111/bioe.70136. PubMed PMID:42250269 .
  12. Prisciandaro, M, Morano, F, Citterio, D, Flores Reyes, M, Barella, M, Mazzaferro, V et al.. Rarity within rarity: complete response to chemoimmunotherapy in a patient with polymerase epsilon (POLE)-mutated locally advanced jejunal carcinoma. Oncologist. 2026;31 (7):. doi: 10.1093/oncolo/oyag223. PubMed PMID:42241221 PubMed Central PMC13295133.
  13. Xie, G, Wang, Q, Du, M, Zhou, Y, Chen, Z, Peng, S et al.. Cdk1-phosphorylated Nur77 accumulates at the centrosome during mitosis to regulate the Cep192-PLK1 signaling axis. Cell Death Dis. 2026; :. doi: 10.1038/s41419-026-08870-3. PubMed PMID:42236697 .
  14. Aguado, B, Lacoste-Palasset, T, Ruffenach, G, Bauer, F, Savale, L, Humbert, M et al.. Exploring the therapeutic potential of GLP-1 receptor agonists in pulmonary arterial hypertension. ERJ Open Res. 2026;12 (3):. doi: 10.1183/23120541.01479-2025. PubMed PMID:42232566 PubMed Central PMC13224206.
  15. Wang, YZ, Li, LY, Chen, YZ, Song, DX, Liu, FY, Zhang, ZY et al.. Structural characterization and in vitro evaluation of the hypolipidemic activity of the HSP-Ia, a bioactive polysaccharide derived from hemp (Cannabis sativa L.) seeds. Carbohydr Polym. 2026;386 :125439. doi: 10.1016/j.carbpol.2026.125439. PubMed PMID:42230038 .
  16. Al-Baldawi, Z, Erzingatzian, A, Ruel, I, Brown, L, Sherman, MH, Laflamme, N et al.. Homozygous familial hypercholesterolemia (HoFH) in Canada. Atherosclerosis. 2026;418 :120792. doi: 10.1016/j.atherosclerosis.2026.120792. PubMed PMID:42229223 .
  17. Costa, E, Ross, JS, Kesselheim, AS. Orphan Designation for Drugs Approved in the United States and European Union: A Comparative Analysis. Clin Pharmacol Ther. 2026; :. doi: 10.1002/cpt.70349. PubMed PMID:42218735 .
  18. Vincze, K, Szwajda, A, Ploner, A, Karlsson, R, Kang, X, Tang, B et al.. Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset. NPJ Parkinsons Dis. 2026;12 (1):. doi: 10.1038/s41531-026-01398-5. PubMed PMID:42209523 PubMed Central PMC13219586.
  19. Nikolcheva, T, Pagano, G, Anzures-Cabrera, J, Trundell, D, Kustermann, T, Simuni, T et al.. Efficacy and safety of intravenous prasinezumab in individuals with early-stage Parkinson's disease on stable symptomatic monotherapy (PADOVA): a phase 2b, multicentre, randomised, double-blind, placebo-controlled study. Lancet. 2026;407 (10544):2227-2240. doi: 10.1016/S0140-6736(26)00865-2. PubMed PMID:42208564 .
  20. Blandy, O, Lembo, P, Folorunso, R, Myren, KJ, Chevrou-Severac, H, Thomas, SK et al.. Use of Real-World Evidence in Health Technology Assessments of Non-Oncology Rare Disease Therapies. J Mark Access Health Policy. 2026;14 (2):. doi: 10.3390/jmahp14020032. PubMed PMID:42200984 PubMed Central PMC13214738.
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