INFORMAZIONI SU QUESTO ARTICOLO

Cita

1. World Health Organization. 6. Priority diseases and reasons for inclusion. 6.19 Rare diseases. Available at: https://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf. [cited Jun 23 2021]. Search in Google Scholar

2. García-Pérez L, Linertová R, Valcárcel-Nazco C, Posada M, Gorostiza I, Serrano-Aguilar P. Cost-of-illness studies in rare diseases: a scoping review. Orphanet J Rare Dis. 2021;16(1):178.10.1186/s13023-021-01815-3804519933849613 Search in Google Scholar

3. European Parliament and Council. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. Off J Eur Communities [Internet]. 2000;I. 18/1(jenuary):1–5. Search in Google Scholar

4. Griggs RC, Batshaw M, Dunkle M, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96:20–26.10.1016/j.ymgme.2008.10.003313479519013090 Search in Google Scholar

5. Laimer M, Pohla-Gubo G, Diem A, Prodinger C, Bauer JW, Hintner H. Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease. Wien Klin Wochenschr. 2017;129(1-2):1-7.10.1007/s00508-016-1133-3524753727909793 Search in Google Scholar

6. Cannizzo S, Lorenzoni V, Palla I, et al. Rare diseases under different levels of economic analysis: current activities, challenges and perspectives. RMD Open. 2018;4(Suppl 1):e000794.10.1136/rmdopen-2018-000794624196730488003 Search in Google Scholar

7. Javaid MK, Forestier-Zhang L, Watts L, Turner A, Ponte C, Teare H, Gray D, Gray N, Popert R, Hogg J, Barrett J, Pinedo-Villanueva R, Cooper C, Eastell R, Bishop N, Luqmani R, Wordsworth P, Kaye J. The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases. Orphanet J Rare Dis. 2016;11(1):150.10.1186/s13023-016-0528-6510170927825362 Search in Google Scholar

8. Aronson JK. Rare diseases and orphan drugs. Br J Clin Pharmacol. 2006;61(3):243-245.10.1111/j.1365-2125.2006.02617.x188501716487216 Search in Google Scholar

9. Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Unintended effects of orphan product designation for rare neurological diseases. Ann Neurol. 2012;72(4):481-90.10.1002/ana.23672349044023109143 Search in Google Scholar

10. Sequeira AR, Mentzakis E, Archangelidi O, Paolucci F. The economic and health impact of rare diseases: A meta-analysis. Health Policy and Technology 2021; 10(1):32-44.10.1016/j.hlpt.2021.02.002 Search in Google Scholar

11. National Institutes of Health: Office of Rare Diseases Research. Rare Diseases and Related Terms. [cited Jun 23 2021]. Available at: http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1. Search in Google Scholar

12. Wellman-Labadie O, Zhou Y. The US Orphan Drug Act: rare disease research stimulator or commercial opportunity? Health Policy. 2010;95(2-3):216-28.10.1016/j.healthpol.2009.12.00120036435 Search in Google Scholar

13. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52 Suppl 2:3-9.10.1111/j.1528-1167.2011.02994.x21463272 Search in Google Scholar

14. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512-521.10.1111/epi.13709538684028276062 Search in Google Scholar

15. Rosander C, Hallböök T. Dravet syndrome in Sweden: a population-based study. Dev Med Child Neurol. 2015;57(7):628-633.10.1111/dmcn.1270925772213 Search in Google Scholar

16. Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, Miller I, Sullivan J, Welborn M, Berg AT. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. Pediatr Neurol. 2017;68:18-34.e3.10.1016/j.pediatrneurol.2017.01.02528284397 Search in Google Scholar

17. Mei D, Cetica V, Marini C, Guerrini R. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia 2019;60(S3):S2-S7.10.1111/epi.1605431904125 Search in Google Scholar

18. Samanta D. Changing Landscape of Dravet Syndrome Management: An Overview. Neuropediatrics. 2020;51(2):135-145.10.1055/s-0040-170169432079034 Search in Google Scholar

19. Anwar A, Saleem S, Patel UK, Arumaithurai K, Malik P. Dravet Syndrome: An Overview. Cureus. 2019;11(6):e5006.10.7759/cureus.5006671324931497436 Search in Google Scholar

20. Whittington MD, Knupp KG, Vanderveen G, Kim C, Gammaitoni A, Campbell JD. The direct and indirect costs of Dravet Syndrome. Epilepsy Behav. 2018;80:109-113.10.1016/j.yebeh.2017.12.03429414539 Search in Google Scholar

21. Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX, Kuzniewicz MW. Incidence of Dravet Syndrome in a US Population. Pediatrics. 2015;136(5):e1310-5.10.1542/peds.2015-1807462180026438699 Search in Google Scholar

22. Lee SK. Old versus new: why do we need new antiepileptic drugs? J Epilepsy Res. 2014;4(2):39–44.10.14581/jer.14010429505225625087 Search in Google Scholar

23. Catterall WA. Dravet Syndrome: A Sodium Channel Interneuronopathy. Curr Opin Physiol. 2018;2:42-50.10.1016/j.cophys.2017.12.007609122430123852 Search in Google Scholar

24. U.S. Food and Drug Administration. FDA Approves First Drug Comprised of an Active Ingredient Derived from Marijuana to Treat Rare, Severe Forms of Epilepsy. FDA. [cited 2021 Jun 25]. Available at: https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-comprised-active-ingredient-derived-marijuana-treat-rare-severe-forms. Search in Google Scholar

25. U.S. Food and Drug Administration. Drug Approval Package: Diacomit (stiripentol). [cited 2021 Jun 25]. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/nda/2018/206709Orig1s000,207223Orig1s000TOC.cfm. Search in Google Scholar

26. U.S. Food and Drug Administration. FDA Approves New Therapy for Dravet Syndrome. [cited 2021 Jun 25]. Available at: https://www.fda.gov/news-events/pressannouncements/fda-approves-new-therapy-dravet-syndrome. Search in Google Scholar

27. Strzelczyk A, Schubert-Bast S. Therapeutic advances in Dravet syndrome: a targeted literature review. Expert Rev Neurother. 2020;20(10):1065-1079.10.1080/14737175.2020.1801423 Search in Google Scholar

28. Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, Kieslich M, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, Herting A, von Spiczak S, Trollmann R, Wolff M, Irwin J, Carroll J, Macdonald D, Pritchard C, Klein KM, Rosenow F, Schubert-Bast S. Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany. Eur J Paediatr Neurol. 2019;23(3):392-403.10.1016/j.ejpn.2019.02.014 Search in Google Scholar

29. Elliott J, McCoy B, Clifford T, Wells GA, Coyle D. Economic Evaluation of Stiripentol for Dravet Syndrome: A Cost-Utility Analysis. Pharmacoeconomics. 2018;36 (10):1253-1261.10.1007/s40273-018-0669-7 Search in Google Scholar

30. Elliott J, McCoy B, Clifford T, Potter BK, Wells GA, Coyle D. Economic Evaluation of Cannabinoid Oil for Dravet Syndrome: A Cost-Utility Analysis. Pharmacoeconomics. 2020;38(9):971-980.10.1007/s40273-020-00923-5 Search in Google Scholar

31. Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O’Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S. Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 2018;22(5):738-748.10.1016/j.ejpn.2018.05.006 Search in Google Scholar

32. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733-45.10.1016/S1474-4422(15)00069-1 Search in Google Scholar

33. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345–1356.10.1056/NEJMra05532317005952 Search in Google Scholar

34. Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019;20:217-240.10.1146/annurev-genom-083118-01535431018109 Search in Google Scholar

35. Curatolo P, Bombardieri R, Jóźwiak S. Tuberous sclerosis. Lancet 2008; 372: 657–68. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236–41.10.1016/S0140-6736(08)61279-9 Search in Google Scholar

36. Vignoli A, La Briola F, Turner K, et al. Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia 2013; 54: 2134–42.10.1111/epi.1243024304436 Search in Google Scholar

37. de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015;52(1):25-35.10.1016/j.pediatrneurol.2014.10.004442734725532776 Search in Google Scholar

38. Ebrahimi-Fakhari D, Mann LL, Poryo M, et al. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study [published correction appears in Orphanet J Rare Dis. 2019;14(1):106]. Orphanet J Rare Dis. 2018;13(1):117.10.1186/s13023-018-0870-y605067330016967 Search in Google Scholar

39. Kingswood JC, Crawford P, Johnson SR, Sampson JR, Shepherd C, Demuth D, et al. The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink. J Med Econ. 2016;19(11):1087–98.10.1080/13696998.2016.119943227267148 Search in Google Scholar

40. Skalicky AM, Rentz AM, Liu Z, Said Q, Nakagawa JA, Frost MD, et al. Economic burden, work, and school productivity in individuals with tuberous sclerosis and their families. J Med Econ. 2018;21(10):953–9.10.1080/13696998.2018.148744729890870 Search in Google Scholar

41. Curatolo P, Jóźwiak S, Nabbout R, on behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 2012;16: 582–86.10.1016/j.ejpn.2012.05.00422695035 Search in Google Scholar

42. Zhang B, McDaniel SS, Rensing NR, Wong M. Vigabatrin inhibits seizures and mTOR pathway activation in a mouse model of tuberous sclerosis complex. PLoS One 2013; 8: e57445.10.1371/journal.pone.0057445357771023437388 Search in Google Scholar

43. U.S. Food and Drug Administration. FDA approves everolimus for tuberous sclerosis complex-associated partial-onset seizures. [cited 2021 Jun 26]. Available at: https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-everolimus-tuberous-sclerosis-complex-associated-partial-onset-seizures. Search in Google Scholar

44. Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother 2019;19:913–925.10.1080/14737175.2019.163545731335226 Search in Google Scholar

45. Nelson R. FDA Approves Everolimus for Renal Angiomyolipomas. [cited 2021 Jun 26]. Available at: https://www.medscape.com/viewarticle/762813. Search in Google Scholar

46. Nelson R. FDA Approves Pediatric Everolimus for Treatment of SEGA. [cited 2021 Jun 26]. Available at: https://www.medscape.com/viewarticle/770038. Search in Google Scholar

47. U.S. Food and Drug Administration. FDA Approves New Indication for Drug Containing an Active Ingredient Derived from Cannabis to Treat Seizures in Rare Genetic Disease. FDA. [cited 2021 Jan 1]. Available at: https://www.fda.gov/news-events/press-announcements/fda-approves-new-indication-drug-containingactive-ingredient-derived-cannabis-treat-seizures-rar. Search in Google Scholar

48. Amin S, Mallick AA, Lux A, O’Callaghan F. Quality of life in patients with tuberous sclerosis complex (TSC). Eur J Paediatr Neurol. 2019;23:801-7.10.1016/j.ejpn.2019.09.00631543331 Search in Google Scholar

49. Vergeer M, de Ranitz-Greven W, Neary M, Ionescu-Ittu R, Emond B, Duh MS, Jansen F, Zonnenberg B. Epilepsy, impaired functioning and quality of life in patients with tuberous sclerosis complex. Epilepsia Open. 2019;4:581-92.10.1002/epi4.12365688566431819914 Search in Google Scholar

50. Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature. Orphanet J Rare Dis. 2021;16(1):250.10.1186/s13023-021-01838-w817045834078440 Search in Google Scholar

51. Jansen AC, Vanclooster S, de Vries PJ, et al. Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study. Front Neurol. 2020;11:904.10.3389/fneur.2020.00904748555832982929 Search in Google Scholar

52. Zöllner JP, Franz DN, Hertzberg C, et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare Dis. 2020;15(1):23.10.1186/s13023-019-1258-3697509431964424 Search in Google Scholar

53. Samanta D. Management of Lennox-Gastaut syndrome beyond childhood: A comprehensive review. Epilepsy Behav. 2021;114(Pt A):107612.10.1016/j.yebeh.2020.10761233243685 Search in Google Scholar

54. Trevathan E, Murphy CC, Yeargin-Allsopp M. Prevalence and descriptive epidemiology of Lennox-Gastaut syndrome among Atlanta children. Epilepsia. 1997;38(12):1283-8.10.1111/j.1528-1157.1997.tb00065.x9578523 Search in Google Scholar

55. Amrutkar C, Riel-Romero RM. Lennox Gastaut Syndrome. [Updated 2020 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532965/. Search in Google Scholar

56. Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E., EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia. 2013;54(11):1898-904.10.1111/epi.1239524116958 Search in Google Scholar

57. Asadi-Pooya AA. Lennox-Gastaut syndrome: a comprehensive review. Neurol Sci. 2018;39(3):403-414.10.1007/s10072-017-3188-y29124439 Search in Google Scholar

58. Camfield PR. Definition and natural history of Lennox- Gastaut syndrome. Epilepsia. 2011;52 Suppl 5:3-9.10.1111/j.1528-1167.2011.03177.x21790560 Search in Google Scholar

59. Heiskala H. Community-based study of Lennox-Gastaut syndrome. Epilepsia. 1997;38(5):526-31.10.1111/j.1528-1157.1997.tb01136.x9184597 Search in Google Scholar

60. Bourgeois BF, Douglass LM, Sankar R. Lennox-Gastaut syndrome: a consensus approach to differential diagnosis. Epilepsia. 2014;55 Suppl 4:4-9.10.1111/epi.1256725284032 Search in Google Scholar

61. Mastrangelo M. Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics. 2017;48(3):143-151.10.1055/s-0037-160132428346953 Search in Google Scholar

62. European Medicines Agency. Epidyolex - European public assessment report. [cited 2021 Jun 28]. Available at: https://www.ema.europa.eu/en/medicines/human/EPAR/epidyolex. Search in Google Scholar

63. Meglio M. Fenfluramine Demonstrates Efficacy in Lennox- Gastaut Syndrome in Phase 3 Results. [cited 2021 Jun 28]. Available at: https://www.neurologylive.com/view/fenfluramine-demonstrates-efficacyin-lennox-gastaut-syndrome. Search in Google Scholar

64. Knupp K, Scheffer I, Ceulemans B, et al. Efficacy and safety of FINTEPLA (fenfluramine) for the treatment of seizures associated with Lennox-Gastaut syndrome: a randomized, double-blind, placebo-controlled clinical trial. Presented at the Virtual American Epilepsy Society (AES) 2020 Annual Meeting; December 4–8, 2020. Abstract 852. [cited 2021 Jun 28]. Available at: https://zogenix-pharmawrite.ipostersessions.com/Default.aspx?s=EB-5F-AF-35-5D-BD-B7-B4-45-A7-1DD6-E7-B4-72-94. Search in Google Scholar

65. Reaven NL, Funk SE, Montouris GD, Saurer TB, Story TJ. Burden of illness in patients with possible Lennox- Gastaut syndrome: A retrospective claims-based study. Epilepsy Behav. 2018;88:66-73.10.1016/j.yebeh.2018.08.03230241056 Search in Google Scholar

66. Neuberger EE, Carlson JJ, Veenstra DL. Cost-Effectiveness of Cannabidiol Adjunct Therapy versus Usual Care for the Treatment of Seizures in Lennox-Gastaut Syndrome. Pharmacoeconomics. 2020;38(11):1237-1245.10.1007/s40273-020-00945-z32715412 Search in Google Scholar

67. Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman Syndrome. Neurotherapeutics. 2015;12(3):641-50.10.1007/s13311-015-0361-y448996126040994 Search in Google Scholar

68. Bonello D, Camilleri F, Calleja-Agius J. Angelman Syndrome: Identification and Management. Neonatal Netw. 2017;36(3):142-151.10.1891/0730-0832.36.3.14228494826 Search in Google Scholar

69. Buiting K, Williams C, Horsthemke B. Angelman syndrome - insights into a rare neurogenetic disorder. Nat Rev Neurol. 2016;12(10):584-93.10.1038/nrneurol.2016.13327615419 Search in Google Scholar

70. Bialer M, Johannessen SI, Koepp MJ, Levy RH, Perucca E, Tomson T, White HS. Progress report on new antiepileptic drugs: A summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). I. Drugs in preclinical and early clinical development. Epilepsia. 2018;59(10):1811-1841.10.1111/epi.1455730368792 Search in Google Scholar

71. Angelman Syndrome Foundation., What is Angelman Syndrome. [cited Jun 28 2021]. Available at: https://www.angelman.org/what-is-as/. Search in Google Scholar

72. Tan WH, Bird LM. Angelman syndrome: Current and emerging therapies in 2016. Am J Med Genet C Semin Med Genet. 2016;172(4):384-401.10.1002/ajmg.c.3153627860204 Search in Google Scholar

73. Ovid Therapeutics Bold Medicine. Ovid Therapeutics Announces Phase 3 NEPTUNE Clinical Trial of OV101 for the Treatment of Angelman Syndrome Did Not Meet Primary Endpoint. [cited Jun 28 2021]. Available at: https://investors.ovidrx.com/news-releases/news-release-details/ovid-therapeutics-announces-phase-3-neptune-clinical-trial-ov101/. Search in Google Scholar

74. Madaan M, Mendez MD. Angelman Syndrome. 2021 Jan 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 32809705. Search in Google Scholar

75. Khan N, Cabo R, Tan WH, Tayag R, Bird LM. Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. Mol Genet Genomic Med. 2019;7(7):e00734.10.1002/mgg3.734662509131090212 Search in Google Scholar

76. Domínguez-Berjón MF, Zoni AC, Esteban-Vasallo MD, Sendra-Gutierrez JM, Astray-Mochales J. Main causes of hospitalization in people with Angelman syndrome. Journal of Applied Research in Intellectual Disabilities 2018; 31(3):466–469.10.1111/jar.1241128869323 Search in Google Scholar

77. Butler MG, Miller JL, Forster JL. Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. Curr Pediatr Rev. 2019;15(4):207-244.10.2174/1573396315666190716120925704052431333129 Search in Google Scholar

78. Butler MG, Manzardo AM, Forster JL. Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches. Curr Pediatr Rev. 2016;12(2):136-166.10.2174/1573396312666151123115250674251526592417 Search in Google Scholar

79. Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. Adv Pediatr. 2016;63(1):47-77.10.1016/j.yapd.2016.04.005495580927426895 Search in Google Scholar

80. Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol. 2013;2013(1):14.10.1186/1687-9856-2013-14375177523962041 Search in Google Scholar

81. Butler MG. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 1990; 35:319–32.10.1002/ajmg.132035030654930422309779 Search in Google Scholar

82. Butler MG, Thompson T. Prader-Willi syndrome: Clinical and genetic findings. Endocrinology 2000; 10:2S–16S.10.1097/00019616-200010041-00002499662027570435 Search in Google Scholar

83. Duis J, van Wattum PJ, Scheimann A, et al. A multidisciplinary approach to the clinical management of Prader- Willi syndrome. Mol Genet Genomic Med. 2019;7(3):e514.10.1002/mgg3.514641844030697974 Search in Google Scholar

84. Miller JL, Lynn CH, Shuster J, Driscoll DJ. A reducedenergy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome. J Hum Nutr Diet. 2013;26(1):2-9.10.1111/j.1365-277X.2012.01275.x411207823078343 Search in Google Scholar

85. Fermin Gutierrez MA, Mendez MD. Prader-Willi Syndrome. [Updated 2020 Oct 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK553161/. Search in Google Scholar

86. Prader-Willi Syndrome News. Clinical Trials Advance as Tesomet Granted FDA’s Orphan Drug Status. [cited Jun 29 2021]. Available at: https://praderwillinews.com/2021/03/04/tesomet-receives-fda-orphandrug-status-for-pws-clinical-trials-advance/. Search in Google Scholar

87. López-Bastida J, Linertová R, Oliva-Moreno J, Posadade- la-Paz M, Serrano-Aguilar P, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Baji P, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G; BURQOL-RD Research Network. Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe. Eur J Health Econ. 2016;17 Suppl 1:99-108.10.1007/s10198-016-0788-z27038627 Search in Google Scholar

88. Chevreul K, Berg Brigham K, Clément MC, Poitou C, Tauber M; Members of the BURQOL-RD Research Network listed in the Online Appendix. Economic burden and health-related quality of life associated with Prader- Willi syndrome in France. J Intellect Disabil Res. 2016;60(9):879-90.10.1111/jir.1228827174598 Search in Google Scholar

89. Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The pathogenesis and therapy of muscular dystrophies. Annu Rev Genomics Hum Genet. 2015;16:281–308.10.1146/annurev-genom-090314-02500326048046 Search in Google Scholar

90. Kornegay JN. The golden retriever model of Duchenne muscular dystrophy. Skelet Muscle. 2017;7(1):9.10.1186/s13395-017-0124-z543851928526070 Search in Google Scholar

91. Nozoe KT, Akamine RT, Mazzotti DR, et al. Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. Sleep Sci. 2016;9(3):129-133.10.1016/j.slsci.2016.07.004 Search in Google Scholar

92. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77-93.10.1016/S1474-4422(09)70271-6 Search in Google Scholar

93. Strehle EM, Straub V. Recent advances in the management of Duchenne muscular dystrophy. Arch Dis Child. 2015;100(12):1173-7.10.1136/archdischild-2014-307962 Search in Google Scholar

94. Rae MG, O’Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol. 2016;116(3):1304-1315.10.1152/jn.00248.2016 Search in Google Scholar

95. Alemdaroğlu I, Karaduman A, Yilmaz ÖT, Topaloğlu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2015;51(5):697-705.10.1002/mus.24451 Search in Google Scholar

96. Iftikhar M, Frey J, Shohan MJ, Malek S, Mousa SA. Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy. Pharmacol Ther. 2021;220:107719.10.1016/j.pharmthera.2020.107719 Search in Google Scholar

97. Ke Q, Zhao ZY, Mendell JR, Baker M, Wiley V, Kwon JM, Alfano LN, Connolly AM, Jay C, Polari H, Ciafaloni E, Qi M, Griggs RC, Gatheridge MA. Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. World J Pediatr. 2019;15(3):219-225.10.1007/s12519-019-00242-6 Search in Google Scholar

98. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, Cripe L, Herron AR, Kennedy A, Kinnett K, Naprawa J, Noritz G, Poysky J, Street N, Trout CJ, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455.10.1016/S1474-4422(18)30026-7 Search in Google Scholar

99. Cavazza M, Kodra Y, Armeni P, De Santis M, López- Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Péntek M, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G; BURQOL-RD Research Network. Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. Eur J Health Econ. 2016;17 Suppl 1:19-29.10.1007/s10198-016-0782-527038625 Search in Google Scholar

100. Landfeldt E, Lindgren P, Bell CF, et al. The burden of Duchenne muscular dystrophy: an international, crosssectional study. Neurology. 2014;83(6):529-536.10.1212/WNL.0000000000000669414199924991029 Search in Google Scholar

101. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.10.1186/1750-1172-6-71323187422047105 Search in Google Scholar

102. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115.10.1016/j.nmd.2017.11.00529290580 Search in Google Scholar

103. Farrar MA, Kiernan MC. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics. 2015;12(2):290-302.10.1007/s13311-014-0314-x440444125413156 Search in Google Scholar

104. Al Dakhoul S. Very severe spinal muscular atrophy (Type 0). Avicenna J Med. 2017;7(1):32-33.10.4103/2231-0770.197512525598028182029 Search in Google Scholar

105. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko- Osadsa DA, Allitto BA. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27-32.10.1038/ejhg.2011.134323450321811307 Search in Google Scholar

106. López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):1–7.10.1186/s13023-017-0695-0556303528821278 Search in Google Scholar

107. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2021 Jan 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/. Search in Google Scholar

108. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81(3):355-368.10.1002/ana.24864539627528026041 Search in Google Scholar

109. Acsadi G, Crawford TO, Müller-Felber W, Shieh PB, Richardson R, Natarajan N, Castro D, Ramirez- Schrempp D, Gambino G, Sun P, Farwell W. Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study. Muscle Nerve. 2021;63(5):668-677.10.1002/mus.27187824806133501671 Search in Google Scholar

110. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019;79(11):1255-1262.10.1007/s40265-019-01162-531270752 Search in Google Scholar

111. Kirschner J, Butoianu N, Goemans N, et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2020;28:38-43.10.1016/j.ejpn.2020.07.001734735132763124 Search in Google Scholar

112. Dhillon S. Risdiplam: First Approval. Drugs. 2020;80(17):1853-1858.10.1007/s40265-020-01410-z33044711 Search in Google Scholar

113. Belter L, Cruz R, Kulas S, McGinnis E, Dabbous O, Jarecki J. Economic burden of spinal muscular atrophy: an analysis of claims data. J Mark Access Health Policy. 2020;8(1):1843277.10.1080/20016689.2020.1843277765507033224449 Search in Google Scholar

114. Pharmacoeconomic Review Report: Nusinersen (Spinraza): (Biogen Canada Inc.): Indication: Treatment of patients with 5q SMA [Internet]. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2018 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK534118/. Search in Google Scholar

115. Zuluaga-Sanchez S, Teynor M, Knight C, Thompson R, Lundqvist T, Ekelund M, Forsmark A, Vickers AD, Lloyd A. Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden. Pharmacoeconomics. 2019;37(6):845-865.10.1007/s40273-019-00769-630714083 Search in Google Scholar

116. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res. 2019;9(3):127-128.10.4103/ijabmr.IJABMR_190_19665228131392173 Search in Google Scholar

117. Pearson SD, Thokala P, Stevenson M, Rind D. The Effectiveness and Value of Treatments for Spinal Muscular Atrophy. J Manag Care Spec Pharm. 2019;25(12):1300-1306.10.18553/jmcp.2019.25.12.130031778620 Search in Google Scholar

118. Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, et al. Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany. Orphanet J Rare Dis. 2014;9(1):210.10.1186/s13023-014-0210-9430271325519771 Search in Google Scholar

119. Frenzen PD. Economic cost of Guillain–Barré syndrome in the United States. Neurology. 2008;71:21–7.10.1212/01.wnl.0000316393.54258.d118591502 Search in Google Scholar

120. Mahdi-Rogers M, McCrone P, Hughes RAC. Economic costs and quality of life in chronic inflammatory neuropathies in southeast England. Eur J Neurol. 2014;21(1):34–9.10.1111/ene.1224523930744 Search in Google Scholar

121. Larkindale J, Yang W, Hogan PF, Simon CJ, Zhang Y, Jain A, et al. Cost of illness for neuromuscular diseases in the United States. Muscle and Nerve. 2014;49(3):431–8.10.1002/mus.2394223836444 Search in Google Scholar

122. Chevreul K, Gandré C, Brigham KB, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada- de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Gulácsi L, von der Schulenburg JM, Kanavos P, Persson U, Fattore G; BURQOL-RD Research Network. Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. Eur J Health Econ. 2016;17 Suppl 1:43-52.10.1007/s10198-016-0784-327072054 Search in Google Scholar

123. Divino V, Dekoven M, Warner JH, Giuliano J, Anderson KE, Langbehn D, Lee WC. The direct medical costs of Huntington’s disease by stage. A retrospective commercial and Medicaid claims data analysis. J Med Econ. 2013;16(8):1043-50.10.3111/13696998.2013.81854523789925 Search in Google Scholar

124. Hendrie D, Bebbington A, Bower C, Leonard H. Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome. Research in Autism Spectrum Disoreders 2011;5(2):901-909.10.1016/j.rasd.2010.10.004 Search in Google Scholar

125. Orphanet. Orphanet Reports Series / Procedures. Prevalence, incidence or reported number of published cases listed in alphabetical order of disease January 2021- n01. [cited 2021 July 3]. Available at: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. Search in Google Scholar

eISSN:
2335-075X
ISSN:
1820-8665
Lingua:
Inglese
Frequenza di pubblicazione:
4 volte all'anno
Argomenti della rivista:
Medicine, Clinical Medicine, other