PUBLICATIONS

Publications on Orphan Drugs

  1. Distler, JHW, Assassi, S, Gabrielli, A, Allanore, Y, Chung, L, Cutolo, M et al.. Conceptual framework for the definition of disease modification in systemic sclerosis and potential implications for drug development and clinical study design. Ann Rheum Dis. 2026; :. doi: 10.1016/j.ard.2026.08.006. PubMed PMID:42736088 .
  2. Mokrysheva, NG, Bardymova, TP, Bibik, EE, Eremkina, AK, Karonova, TL, Kovaleva, EV et al.. [Resolution of the Joint Meeting of the Expert Council "Hypoparathyroidism in the Era of Complex Problems and Breakthrough Technologies"]. Probl Endokrinol (Mosk). 2026;72 (4):10-17. doi: 10.14341/probl13805. PubMed PMID:42733369 PubMed Central PMC13585288.
  3. Vargas, C, Goodall, S, Espinoza, M, De Abreu Lourenco, R. Rare disease definitions across regulatory and reimbursement systems: policy objectives and implications for patient access. Health Policy. 2026;174 :105761. doi: 10.1016/j.healthpol.2026.105761. PubMed PMID:42727519 .
  4. Río Gómez, PD, López, SC, Dávila Pousa, MDC. Regulation and analysis of the access to orphan drugs in the pediatric population in Spain. An Pediatr (Engl Ed). 2026; :504315. doi: 10.1016/j.anpede.2026.504315. PubMed PMID:42716904 .
  5. Hitsch, F, Seifert, R. Analysis of marketing authorizations, withdrawals, and refusals by the European Medicines Agency (EMA): trends in approval procedures 1995-2025. Naunyn Schmiedebergs Arch Pharmacol. 2026; :. doi: 10.1007/s00210-026-05887-5. PubMed PMID:42706333 .
  6. Rodriguez, A, Krishnan, V, Polli, JE, Schwendeman, A. Importance of Single Global Regulatory Standards for the Assessment of Generic and Biosimilar Medicines to Advance Patient Access. AAPS J. 2026;28 (5):. doi: 10.1208/s12248-026-01272-5. PubMed PMID:42693311 .
  7. Alshaikh, RA, Cronin, DJ, Hughes, DA, O'Driscoll, CM. Navigating patient access pathways for non-viral RNA-based therapeutics: a comparative review of health technology assessment and reimbursement pathways across six countries. Eur J Pharm Sci. 2026;227 :107652. doi: 10.1016/j.ejps.2026.107652. PubMed PMID:42685807 .
  8. Szucs, TD. [Innovative drug development: ethical and regulatory challenges]. Ther Umsch. 2026;83 (4):151-156. doi: 10.23785/TU.2026.04.007. PubMed PMID:42678140 .
  9. Xu, M, Wang, C, An, X. Development Timelines of Innovative Drugs in China: A 15-Year Cross-Sectional Analysis of Characteristics and Influencing Factors. Clin Transl Sci. 2026;19 (9):e70702. doi: 10.1111/cts.70702. PubMed PMID:42678023 PubMed Central PMC13531702.
  10. Ilicki, J, Spicer, AJ. Rare disease benchmarks: Investment professionals' accuracy and beliefs. Drug Discov Today. 2026;31 (5):104792. doi: 10.1016/j.drudis.2026.104792. PubMed PMID:42674209 .
  11. Prusty, M, Muduli, K, Pradhan, J, Samal, AP, Tripathy, J, Reddy, KS et al.. Estrogen-related receptor α promotes breast cancer cell migration and invasion by activating transforming growth factor β signaling. Anticancer Drugs. 2026; :. doi: 10.1097/CAD.0000000000001840. PubMed PMID:42669034 .
  12. Nuijten, M, Gelder, PV. Valuation of Medical Innovation in Orphan Diseases with a Focus on Small Investors and Limited Diversifiable Risks. J Mark Access Health Policy. 2026;14 (3):. doi: 10.3390/jmahp14030047. PubMed PMID:42647213 PubMed Central PMC13510584.
  13. Zhu, Y, Brennan, CH, Tian, H, Tran, JN, Neumann, PJ, Chambers, JD et al.. The Timing and Characteristics of Supplemental Indications for Medicines. Am J Manag Care. 2026;32 (7):380-382. doi: 10.37765/ajmc.2026.89982. PubMed PMID:42640206 .
  14. Tibbe, D, Kiel, C, Ielesicheva, O, Robles de Maruri, K, Mahboobi, H, Züghart, J et al.. The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome. Genome Med. 2026;18 (1):. doi: 10.1186/s13073-026-01745-4. PubMed PMID:42638108 PubMed Central PMC13501643.
  15. Hirano, M, Berardo, A, Barca, E, Emmanuele, V, Larson, A, Spinazzola, A et al.. Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS). Neurotherapeutics. 2026; :e01048. doi: 10.1016/j.neurot.2026.e01048. PubMed PMID:42608214 .
  16. Dollfus, H, Arzimanoglou, A, Evangelista, T, Graessner, H, Mosca, M, Sangiorgi, L et al.. Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks. Lancet Reg Health Eur. 2026;69 :101801. doi: 10.1016/j.lanepe.2026.101801. PubMed PMID:42604059 PubMed Central PMC13476765.
  17. Schuhmacher, A, Witting, M, Hartl, D, Hinder, M, Gassmann, O. Reassessing R&D outcomes of leading pharmaceutical companies. Drug Discov Today. 2026;31 (5):104763. doi: 10.1016/j.drudis.2026.104763. PubMed PMID:42580436 .
  18. Stevens, H, Siotis, G, Castanheira, M, Dewatripont, M, Akodad, S, Daems, S et al.. Rebalancing innovation, affordability, and access for orphan drugs in the European Union. Lancet Reg Health Eur. 2026;68 :101778. doi: 10.1016/j.lanepe.2026.101778. PubMed PMID:42571386 PubMed Central PMC13452220.
  19. Perhal, AF, Bertaina, L, González, JEH, Chen, Y, Schwarz, PF, Stamou, P et al.. Tetracyclic triterpenes from Chios Mastic Gum act as TGR5 and RORγ modulators. Biomed Pharmacother. 2026;202 :119829. doi: 10.1016/j.biopha.2026.119829. PubMed PMID:42570635 .
  20. Quan, G, Zhou, Y, Liu, Y, Wu, Y, Yan, Y. Reconceiving orphan drug market exclusivity as a conditional public-law entitlement: a sustainable regulatory governance model with comparative lessons for China. Front Med (Lausanne). 2026;13 :1896433. doi: 10.3389/fmed.2026.1896433. PubMed PMID:42558582 PubMed Central PMC13437677.
Search PubMed