REFERENCES

1. Global Genes. Rare disease facts. Available from: https://globalgenes.org/learn/rare-disease-facts/ [Last accessed on 30 Oct 2023].

2. Farnaes L, Hildreth A, Sweeney NM, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med 2018;3:10.

3. European Commission. Rare diseases. Available from: https://health.ec.europa.eu/non-communicable-diseases/expert-group-public-health/rare-diseases_en [Last accessed on 30 Oct 2023].

4. Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there? Nat Rev Drug Discov 2020;19:77-8.

5. Orpha.net. Orphanet-homepage. Available from: http://www.orpha.net/consor/www/cgi-bin/index.php?lng=FR [Last accessed on 30 Oct 2023].

6. Tambuyzer E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat Rev Drug Discov 2010;9:921-9.

7. Tambuyzer E, Vandendriessche B, Austin CP, et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat Rev Drug Discov 2020;19:93-111.

8. Maldonado R, Jalil S, Wartiovaara K. Curative gene therapies for rare diseases. J Commun Genet 2021;12:267-76.

9. McKinsey & company. A call to action: opportunities and challenges for CGTs in Europe. Available from: https://www.mckinsey.com/industries/life-sciences/our-insights/a-call-to-action-opportunities-and-challenges-for-cgts-in-europe [Last accessed on 30 Oct 2023].

10. Friedmann T, Roblin R. Gene therapy for human genetic disease? Science 1972;175:949-55.

11. Terheggen HG, Lowenthal A, Lavinha F, Colombo JP, Rogers S. Unsuccessful trial of gene replacement in arginase deficiency. Z Kinderheilkd 1975;119:1-3.

12. Culver KW, Anderson WF, Blaese RM. Lymphocyte gene therapy. Hum Gene Ther 1991;2:107-9.

13. Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science 1995;270:475-80.

14. Young CM, Quinn C, Trusheim MR. Durable cell and gene therapy potential patient and financial impact: US projections of product approvals, patients treated, and product revenues. Drug Discov Today 2022;27:17-30.

15. Mitha F. The return of gene therapy. Available from: https://www.labiotech.eu/in-depth/gene-therapy-history/ [Last accessed on 30 Oct 2023].

16. Arabi F, Mansouri V, Ahmadbeigi N. Gene therapy clinical trials, where do we go? An overview. Biomed Pharmacother 2022;153:113324.

17. Bulaklak K, Gersbach CA. The once and future gene therapy. Nat Commun 2020;11:5820.

18. European Medicines Agency. Glybera. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/glybera [Last accessed on 30 Oct 2023].

19. European Medicines Agency. Strimvelis. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/strimvelis [Last accessed on 30 Oct 2023].

20. European Medicines Agency. Luxturna. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/luxturna [Last accessed on 30 Oct 2023].

21. European Medicines Agency. Upstaza. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/upstaza [Last accessed on 30 Oct 2023].

22. EU Clinical Trials Register. Clinical trial results: a phase 1/2 clinical trial for treatment of aromatic l-amino acid decarboxylase (AADC) deficiency using AAV2-hAADC (eladocagene exuparvovec). Available from: https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003032-23/results [Last accessed on 30 Oct 2023].

23. Abrahamyan L, Feldman BM, Tomlinson G, et al. Alternative designs for clinical trials in rare diseases. Am J Med Genet C Semin Med Genet 2016;172:313-31.

24. Kempf L, Goldsmith JC, Temple R. Challenges of developing and conducting clinical trials in rare disorders. Am J Med Genet A 2018;176:773-83.

25. Pizzamiglio C, Vernon HJ, Hanna MG, Pitceathly RDS. Designing clinical trials for rare diseases: unique challenges and opportunities. Nat Rev Methods Primers 2022;2:13.

26. European Medicines Agency. Yescarta. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/yescarta [Last accessed on 30 Oct 2023].

27. FDA. YESCARTA (axicabtagene ciloleucel). Available from: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/yescarta-axicabtagene-ciloleucel [Last accessed on 30 Oct 2023].

28. European Medicines Agency. Kymriah. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/kymriah [Last accessed on 30 Oct 2023].

29. FDA. KYMRIAH (tisagenlecleucel). Available from: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/kymriah-tisagenlecleucel [Last accessed on 30 Oct 2023].

30. Abecma. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/abecma [Last accessed on 30 Oct 2023].

31. ABECMA (idecabtagene vicleucel). Available from: https://www.fda.gov/vaccines-blood-biologics/abecma-idecabtagene-vicleucel [Last accessed on 30 Oct 2023].

32. Carvykti. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/carvykti [Last accessed on 30 Oct 2023].

33. FDA. Carvykti. https://www.fda.gov/vaccines-blood-biologics/carvykti Available from: [Last accessed on 30 Oct 2023].

34. European Medicines Agency. Tecartus. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/tecartus [Last accessed on 30 Oct 2023].

35. FDA. Tecartus (brexucabtagene autoleucel). Available from: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/tecartus-brexucabtagene-autoleucel [Last accessed on 30 Oct 2023].

36. Roctavian. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/roctavian-0 [Last accessed on 30 Oct 2023].

37. Libmeldy. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/libmeldy [Last accessed on 30 Oct 2023].

38. Zolgensma. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma [Last accessed on 30 Oct 2023].

39. FDA. Zolgensma. Available from: https://www.fda.gov/vaccines-blood-biologics/zolgensma [Last accessed on 30 Oct 2023].

40. Skysona. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/skysona [Last accessed on 30 Oct 2023].

41. FDA. Skysona. Available from: https://www.fda.gov/vaccines-blood-biologics/skysona [Last accessed on 30 Oct 2023].

42. Gardner RV. Sickle cell disease: advances in treatment. Ochsner J 2018;18:377-89.

43. Zafar SY, Abernethy AP. Financial toxicity, Part I: a new name for a growing problem. Oncology 2013;2:80-149.

44. Green A. Biotech companies defend prices of one-off gene therapy. Available from: https://www.ft.com/content/edd639fc-9755-11e9-98b9-e38c177b152f [Last accessed on 30 Oct 2023].

45. Gardner J. How many million-dollar drugs can health systems tolerate? Available from: https://www.evaluate.com/vantage/articles/analysis/spotlight/how-many-million-dollar-drugs-can-health-systems-tolerate [Last accessed on 30 Oct 2023].

46. Schmickel B, Perry K, Sanchez H, et al. Exploring the Truth of reimbursement challenges for cell and gene therapies. Available from: https://trinitylifesciences.com/wp-content/uploads/2021/05/Trinity_Reimbursement_Challenges-6.10.19-1.pdf [Last accessed on 30 Oct 2023].