PUBLICATIONS

Publications on Orphan Drugs

  1. Poddar, A, Innes, GK, Liu, Q, Saha, A, Hanger, M, Franzetti, K et al.. Mitigating Limited Data Challenges to Improve Artificial Intelligence Integration in Rare Disease Drug Development. NEJM AI. 2025;2 (12):. doi: 10.1056/AIp2500802. PubMed PMID:41383221 PubMed Central PMC12690552.
  2. Jiwani, B. From Justification to Legitimacy: A Deliberative Framework for Decisions Around Expensive Drugs for Rare Diseases. J Inherit Metab Dis. 2026;49 (1):e70126. doi: 10.1002/jimd.70126. PubMed PMID:41370849 .
  3. Delcroix, M, Lang, IM, D'Armini, AM, Fadel, E, Guth, S, Hoole, SP et al.. Long-term effects of medical treatment in patients with chronic thromboembolic pulmonary hypertension. ERJ Open Res. 2025;11 (6):. doi: 10.1183/23120541.00769-2025. PubMed PMID:41367646 PubMed Central PMC12683553.
  4. Samowitz, P, Radnai, L, Vaissiere, T, Michaelson, SD, Rojas, C, Mitchell, R et al.. The Endo-GeneScreen platform identifies drug-like probes that regulate endogenous protein levels within physiological contexts. Nat Commun. 2025;16 (1):10970. doi: 10.1038/s41467-025-65971-x. PubMed PMID:41366089 PubMed Central PMC12689758.
  5. Douglas, CMW, Kleinhout-Vliek, T, Hagendijk, R, Rabeharisoa, V, Boon, W, Aith, F et al.. How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases. Orphanet J Rare Dis. 2025;20 (1):618. doi: 10.1186/s13023-025-04132-1. PubMed PMID:41361762 PubMed Central PMC12683803.
  6. Doernberg, H, Wallach, JD, Jeffery, MM, Mooghali, M, Ramachandran, R, Ross, JS et al.. Postmarket Drug Safety-Related Actions Before and After the US Food and Drug Administration Amendments Act. JAMA Intern Med. 2025; :. doi: 10.1001/jamainternmed.2025.6566. PubMed PMID:41359349 PubMed Central PMC12687201.
  7. Frost, J, Widening Engagement Patient Advisory Group, Mandizha, J, van den Dungen, C, Asare, L, Pope, C et al.. Can the Development of Orphan Drugs Include Wider Patient Engagement? A Citizens' Jury to Explore a Promissory Notion. Health Expect. 2025;28 (6):e70524. doi: 10.1111/hex.70524. PubMed PMID:41347535 PubMed Central PMC12679173.
  8. Parker, S, El Hajjar, J, Jonker, AH, Kahn, SR, Kritikou, P, Kyryiakopoulou, C et al.. Non-oncology orphan drug development: Productivity and probability of success. Drug Discov Today. 2025; :104568. doi: 10.1016/j.drudis.2025.104568. PubMed PMID:41344392 .
  9. Oliveira, BA, Torres, A, Ricci-Júnior, E, Almeida, IF, Monteiro, MSSB. Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review. Pharmaceuticals (Basel). 2025;18 (11):. doi: 10.3390/ph18111762. PubMed PMID:41305004 PubMed Central PMC12655290.
  10. Hu, C, Dong, J, Yuan, J, Shang, S, Zhai, X, Wen, Y et al.. Effect of Brassinolide on the Growth and Physiological Indicators of Foxtail Millet Under Cyhalofop-Butyl Damage. Plants (Basel). 2025;14 (22):. doi: 10.3390/plants14223421. PubMed PMID:41304572 PubMed Central PMC12656274.
  11. Marcellusi, A, Cazzato, D, Guarnotta, G, Aiello, A, Bonfanti, M, Bitonti, R et al.. Horizon scanning and drug expenditure for rare diseases: three-year predictive model in Italy 2025-2027. Health Econ Rev. 2025; :. doi: 10.1186/s13561-025-00699-4. PubMed PMID:41296238 .
  12. Grynblat, J, Hlavaty, A, Savale, L, Weatherald, J, Le Bozec, A, Aguado, B et al.. Drugs and toxins associated with pulmonary arterial hypertension: from established culprits to novel threats. ERJ Open Res. 2025;11 (6):. doi: 10.1183/23120541.00382-2025. PubMed PMID:41293777 PubMed Central PMC12643032.
  13. Mooney, H, Kesselheim, AS, Rome, BN. US spending on high-revenue rare disease drugs in 2022. Am J Manag Care. 2025;31 (11):e329-e335. doi: 10.37765/ajmc.2025.89823. PubMed PMID:41289291 .
  14. Pan, I, Lin, C, Palestine, AG, Edwards Mayhew, RG, Jung, JL. Use of Tacrolimus for the Treatment of Pediatric Noninfectious Uveitis. Ophthalmol Ther. 2025; :. doi: 10.1007/s40123-025-01275-z. PubMed PMID:41275437 .
  15. Kumar, A, Shukla, S, Rai, A, Pathak, P, Narayan, KP. Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen). Orphanet J Rare Dis. 2025;20 (1):598. doi: 10.1186/s13023-025-04042-2. PubMed PMID:41272780 PubMed Central PMC12639972.
  16. Conduit, SE, Zhang, CXW, Pearce, W, Guillermet-Guibert, J, Sferruzzi-Perri, AN, Vanhaesebroeck, B et al.. Novel role for PI3Kβ in placental function through regulation of system A amino acid transporter expression, associated with embryonic lethality. Cell Mol Life Sci. 2025;82 (1):413. doi: 10.1007/s00018-025-05937-w. PubMed PMID:41258474 PubMed Central PMC12630484.
  17. Rosenthal, GL, Peiris, V, Torjusen, E, Federici, T, Schwartz, SB, Ricci, LJ et al.. A national strategic framework for developing medical devices for children. Pediatr Res. 2025; :. doi: 10.1038/s41390-025-04548-2. PubMed PMID:41254176 .
  18. Benchetrit, S, Chu, C, Athanasiou, D, Scherer, S, de Andres Trelles, F, Stoyanova-Beninska, V et al.. Paediatric medicines development for Duchenne muscular dystrophy: An EU regulatory perspective. J Neuromuscul Dis. 2025; :22143602251397736. doi: 10.1177/22143602251397736. PubMed PMID:41252306 .
  19. Versteeg, JW, Stam, N, Mantel-Teeuwisse, AK, Timmers, L, Goettsch, W, Leopold, C et al.. Coverage with evidence development for medicines with insufficient evidence of clinical benefit: experience from the Netherlands. Int J Technol Assess Health Care. 2025;41 (1):e83. doi: 10.1017/S0266462325103267. PubMed PMID:41243444 PubMed Central PMC12689239.
  20. Zarbock, A, Ostermann, M, Forni, L, Bode, C, Wild, L, Putensen, C et al.. A preventive care strategy to reduce moderate or severe acute kidney injury after major surgery (BigpAK-2); a multinational, randomised clinical trial. Lancet. 2025; :. doi: 10.1016/S0140-6736(25)01717-9. PubMed PMID:41242333 .
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