Page 40 - Read Online

Page 14 of 14 Brooks et al. Rare Dis Orphan Drugs J 2024;3:15 https://dx.doi.org/10.20517/rdodj.2023.27

11. Applied Therapeutics. Applied therapeutics announces positive sorbitol reduction data from the ongoing phase 3 INSPIRE trial in
sorbitol dehydrogenase (SORD) deficiency. 2023. Available from: https://ir.appliedtherapeutics.com/news-releases/news-release-
details/applied-therapeutics-announces-positive-sorbitol-reduction-data
12. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet
database. Eur J Hum Genet 2020;28:165-73. DOI PubMed PMC
13. Beaverson KL, Julkowska D, Letinturier MCV, et al. The IRDiRC chrysalis task force: making rare disease research attractive to
companies. Ther Adv Rare Dis 2023;4:26330040231188979. DOI PubMed PMC
14. Brooks PJ, Tagle DA, Groft S. Expanding rare disease drug trials based on shared molecular etiology. Nat Biotechnol 2014;32:515-8.
DOI PubMed PMC
15. Park JJH, Hsu G, Siden EG, Thorlund K, Mills EJ. An overview of precision oncology basket and umbrella trials for clinicians. CA
Cancer J Clin 2020;70:125-37. DOI PubMed PMC
16. Zanello G, Garrido-Estepa M, Crespo A, et al. Targeting shared molecular etiologies to accelerate drug development for rare diseases.
EMBO Mol Med 2023;15:e17159. DOI PubMed PMC
17. Lomash RM, Shchelochkov O, Chandler RJ, Venditti CP, Pariser AR, Ottinger EA; NIH PaVe-GT Team. Successfully navigating
food and drug administration orphan drug and rare pediatric disease designations for AAV9-hPCCA gene therapy: the national
institutes of health platform vector gene therapy experience. Hum Gene Ther 2023;34:217-27. DOI PubMed PMC
18. Table of contents, volume 193, number 1, March 2023. Am J Med Genetics 2023;193:1-2. DOI
19. Yu TW, Kingsmore SF, Green RC, et al. Are we prepared to deliver gene-targeted therapies for rare diseases? Am J Med Genet C
Semin Med Genet 2023;193:7-12. DOI
20. Gaviglio AM, Skinner MW, Lou LJ, Finkel RS, Augustine EF, Goldenberg AJ. Gene-targeted therapies: towards equitable
development, diagnosis, and access. Am J Med Genet C Semin Med Genet 2023;193:56-63. DOI PubMed
21. Vockley J, Aartsma-Rus A, Cohen JL, et al. Whole-genome sequencing holds the key to the success of gene-targeted therapies. Am J
Med Genet C Semin Med Genet 2023;193:19-29. DOI
22. Garrison LP Jr, Lo AW, Finkel RS, Deverka PA. A review of economic issues for gene-targeted therapies: value, affordability, and
access. Am J Med Genet C Semin Med Genet 2023;193:64-76. DOI PubMed