관련근거
1.GeneReviews®[Internet]
2.Goldman-Cecil Medicine 27e> Chapter 192: Lysosomal Storage Diseases
3.Nelson Textbook of Pediatrics 22e> Chapter 106 Defects in Metabolism of lipids
4.Interdisciplinary Guideline for the Diagnosis and Treatment of Fabry Disease. Guidelines of the German Neurological Society (2022)
5.Preventing the consequences: An evidence-driven proposal for a change in the treatment paradigm for Fabry disease to ensure timely and equitable access to treatment after confirmatory diagnosis. Fabry Australia (2022)
6.Guidelines for the treatment of Fabry Disease. British Inherited Metabolic Disease Group (2020)
7. 2020 Canadian Fabry Disease Treatment Guidelines
8. 2024 Update of the TSOC Expert Consensus of Fabry Disease. Acta Cardiol Sin 2024;40:544-68.
9.An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease Mol Genet Metab 2022;137:49？61.
10.Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study Front. Med. 2023;10:1220637.
11.D.P. Germain et al, Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat, N Engl J Med 2016;375:545-55.
12.D.A. Hughes et al, Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study, J Med Genet 2017;54:288？96.
13.M.E .Christine et al, Safety and efficacy of recombinant human a-galactosidase a replacement therapy in fabry's disease N Engl J Med 2001;345:9-16.
14.R Schiffmann et al, Enzyme Replacement Therapy. A randomized Controlled Trial, JAMA 2001;285:2743-49.
15.E.L. Wallace et al, Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study, J Med Genet 2024;61:520？30.
16.U. Ramaswami et al, Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension, Mol Genet Metab 2025;145:109102
17.J.E. WRAITH et al, Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease, J Pediatr 2008;152:563-70
18.M. Ries et al, Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease, Pediatrics 2006;118:924-32.
19.M. Lenders et al, Treatment of Fabry’s Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS), Clin. Pharmacol. Ther. 2020;108:326-37.
20.A. Pisani et al, Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis, J Inherit Metab Dis. 2024;47:1080？1095.
21.PBAC Public Summary Document - March 2024 PBAC Meeting, December 2022 PBAC Meeting
22.CADTH Canadian Drug Expert Committee Recommendation
23.ALBERTA BLUECROSS MIGALASTAT SPECIAL AUTHORIZATION REQUEST FORM
24.SMC migalastat, 123mg hard capsules (Galafold®) SMC No. (1196/16) (2016.10.7.)
25.Aetna Galafold 2650-A SGM P2021Specialty Pharmacy Clinical Policy Bulletins Aetna Non-Medicare Prescription Drug Plan
26.NICE Migalastat for treating Fabry disease (HST4)(2017.2.22.)