Orphan drug development: Challenges, regulation, and success stories

Abrahamyan L, Feldman BM, Tomlinson G, et al. 2016 Alternative designs for clinical trials in rare diseases. Am. J. Med. Genet. C Semin. Med. Genet. 172 313–331

Article  PubMed  Google Scholar 

Al-Chalabi A and Hardiman O 2013 The epidemiology of ALS: a conspiracy of genes, environment and time. Nat. Rev. Neurol. 9 617–628

Article  PubMed  Google Scholar 

Asher DR, Thapa K, Dharia SD, et al. 2020 Clinical development on the frontier: gene therapy for duchenne muscular dystrophy. Expert Opin. Biol. Ther. 20 263–274

Article  PubMed  Google Scholar 

CDSCO 2019 New drugs and clinical trials rule. The Gazette of India (https://cdsco.gov.in/opencms/export/sites/CDSCO_WEB/Pdf-documents/NewDrugs_CTRules_2019.pdf)

Chakraborty M, Choudhury MC, Chakraborty I, et al. 2022 Rare disease patients in India are rarely involved in international orphan drug trials. PLoS Glob. Public Health 2 e0000890

Article  PubMed  PubMed Central  Google Scholar 

Cheung K and Mitsumoto H 2022 Evaluating personalized (n-of-1) trials in rare diseases: how much experimentation is enough? (Harv: Data Sci. Rev) https://doi.org/10.1162/99608f92.e11adff0

Book  Google Scholar 

Choudhury MC and Saberwal G 2019 The role of patient organizations in the rare disease ecosystem in India: an interview based study. Orphanet J. Rare Dis. 14 117

Article  PubMed  PubMed Central  Google Scholar 

Ciszewski P 2023 Orphan drugs: PDUFA dates and FDA approvals (https://checkrare.com/2023-orphan-drugs-pdufa-dates-and-fda-approvals/)

Davies N 2023 Orphan Drugs: 2022 Thepharmaletter (https://www.thepharmaletter.com/article/orphan-drugs-2022-in-review )

Defelippe VM, van Thiel GJMW, Otte WM, et al. 2023 Toward responsible clinical n-of-1 strategies for rare diseases. Drug Discov. Today 28 103688

Article  PubMed  Google Scholar 

Duan D 2023 Duchenne muscular dystrophy gene therapy in 2023: status, perspective, and beyond. Hum. Gene Ther. 34 345–349

Article  PubMed  Google Scholar 

Haffner ME 2016 History of orphan drug regulation-united states and beyond. Clin. Pharmacol. Ther. 100 342–343

Article  PubMed  Google Scholar 

Jayasundara K, Hollis A, Krahn M, et al. 2019 Estimating the clinical cost of drug development for orphan versus non-orphan drugs. Orphanet J. Rare Dis. 14 12

Article  PubMed  PubMed Central  Google Scholar 

Kacetl J, Marešová P, Maskuriy R, et al. 2020 Ethical questions linked to rare diseases and orphan drugs - a systematic review. Risk Manag. Healthc. Policy 13 2125–2148

Article  PubMed  PubMed Central  Google Scholar 

Liao Z, Qian M, Kronish IM, et al. 2023 Analysis of N-of-1 trials using Bayesian distributed lag model with autocorrelated errors. Stat. Med. 42 2044–2060

Article  MathSciNet  PubMed  Google Scholar 

Marks P and Wilson JM 2023 How can the FDA improve processes for rare diseases? 2023 RARE Drug Development Symposium; Global Genes (https://globalgenes.org/blog/how-can-the-fda-improve-processes-for-rare-diseases-2023-rare-drug-development-symposium/)

Maynard K, Browning-McNee LA, Nizar N, et al. 2023 The regulatory landscape: pathways, end points, and clinical trials. 2023 RARE Drug Development Symposium; Global Genes. (https://globalgenes.org/blog/the-regulatory-landscape-pathways-end-points-and-clinical-trials-2023-rare-drug-development-symposium/)

Ministry of Health 2016 The Right of Persons with Disabilities Act, 2016 (https://www.indiacode.nic.in/bitstream/123456789/15939/1/the_rights_of_persons_with_disabilities_act%2C_2016.pdf)

Ministry of Health 2021 National Policy for Treatment of Rare Diseases (NPTRD). (https://main.mohfw.gov.in/sites/default/files/Final%20NPRD%2C%202021.pdf)

Ministry of Health and Family Welfare 2023 Digital portal for crowdfunding & voluntary donations for patients of rare diseases (https://rarediseases.mohfw.gov.in/Hospital_Treating_Rare_Diseases)

Ministry of Social Justice and Empowerment 2000 The Rehabilitation Council of India (Amendment) Act, 2000. The Gazette of India (https://rehabcouncil.nic.in/sites/default/files/rciact-amendment-2000.pdf)

Mishra M and Satija B 2022 Amgen dives deeper into rare disease drugs with $27.8 bln Horizon deal (Reuters) (https://www.reuters.com/markets/deals/amgen-set-buy-biotech-firm-horizon-26-bln-valuation-bloomberg-news-2022-12-12/)

Mulero A 2023 CBER to launch operation warp speed for rare diseases by year’s end (Biospace) (https://www.biospace.com/article/cber-to-launch-operation-warp-speed-for-rare-diseases-by-year-s-end/)

Müller AR, Brands M, van de Ven PM, et al. 2021 Systematic review of N-of-1 studies in rare genetic neurodevelopmental disorders: The power of 1. Neurology 96 529–540

Article  PubMed  PubMed Central  Google Scholar 

Nikles J and McDonald S 2021 N-of-1 trials in healthcare. Healthcare 9 330

Article  PubMed  PubMed Central  Google Scholar 

Orphan-Drug-Approvals 2023 Search orphan drug designation approvals (U.S. Food and Drug Administration) (https://www.accessdata.fda.gov/scripts/opdlisting/oopd/)

Pingali V and Das N 2021 Rare diseases require support too. Vikalpa 46 129–134

Article  Google Scholar 

Rajasimha HK, Shirol PB, Ramamoorthy P, et al. 2014 Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases’ community. Genet Res. 96 e009

Article  Google Scholar 

Ramanan S and Dave SK 2021 Orphan drug development for rare diseases (Regulatory Affairs Professionals Society) (https://www.raps.org/products/orphan-drug-development-for-rare-diseases-e-book)

Rotenstreich Y, Harats D, Shaish A, et al. 2010 Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-β-carotene. Br. J. Ophthalmol. 94 616–621

Article  PubMed  Google Scholar 

Scholl HP, Moore AT, Koenekoop RK, et al. 2015 Safety and proof-of-concept study of oral QLT091001 in retinitis pigmentosa due to inherited deficiencies of retinal pigment epithelial 65 protein (RPE65) or lecithin:retinol acyltransferase (LRAT). PLoS One 10 e0143846

Article  PubMed  PubMed Central  Google Scholar 

Smith LD and Kingsmore SF 2014 N-of-1 genomic medicine for the rare pediatric genetic diseases. Expert Opin. Orphan Drugs 2 1279–1290

Article  Google Scholar 

Srivastava G and Wislow A 2023 Orphan drugs: Understanding the FDA approval process (Academic Enterpreneurship for Medial and Health Scientists) (https://academicentrepreneurship.pubpub.org/pub/einr3b30/release/3#summary)

Synofzik M, van Roon-Mom WMC, Marckmann G, et al. 2022 Preparing N-of-1 antisense oligonucleotide treatments for rare neurological diseases in Europe: Genetic, regulatory, and ethical perspectives. Nucleic Acid Ther. 32 83–94

Article  PubMed  PubMed Central  Google Scholar 

US-FDA 2022 Medical products for rare diseases and conditions (U.S. Food and Drug Administration) (https://www.fda.gov/industry/medical-products-rare-diseases-and-conditions)

US-FDA 2023a Cellular, Tissue, and Gene Therapies Advisory Committee May 12, 2023 meeting announcement (U.S. Food and Drug Administration) (https://www.fda.gov/advisory-committees/advisory-committee-calendar/cellular-tissue-and-gene-therapies-advisory-committee-may-12-2023-meeting-announcement-05122023)

US-FDA 2023b Rare diseases at FDA (U.S. Food and Drug Administration) (https://www.fda.gov/patients/rare-diseases-fda)

US-FDA 2023c Rare diseases at the FDA (U.S. Food and Drug Administration) (https://www.fda.gov/patients/rare-diseases-fda)

US-FDA 2023d Rare diseases: common issues in drug development guidance for industry (U.S. Food and Drug Administration) (https://www.fda.gov/regulatory-information/search-fda-guidance-documents/rare-diseases-common-issues-drug-development-guidance-industry)

Vashishta L, Bapat P, Bhattacharya Y, et al. 2023 A survey of rare disease awareness among healthcare professionals and researchers in India. J. Biosci. 48 37

Article  PubMed  Google Scholar 

Zarbin MA and Novack G 2021 N-of-1 clinical trials: A scientific approach to personalized medicine for patients with rare retinal diseases such as retinitis pigmentosa. J. Ocul. Pharmacol. Ther. 37 495–501

Article  PubMed  Google Scholar 

留言 (0)

沒有登入
gif