遗传代谢病的治疗进展

doi:10.11852/zgetbjzz2024-0988

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R722.1
R450

梁雁, 罗小平. 遗传代谢病的治疗进展[J]. 中国儿童保健杂志, 2024, 32(9): 929-933.

[1] Ferreira CR,Rahman S,Keller M,et al.An international classification of inherited metabolic disorders (ICIMD)[J].J Inherit Metab Dis,2021,44(1):164-177.
[2] Turner A,Glinton KE,Sutton VR.Advancements in therapeuticsfor inborn errors of metabolism[J].Curr Opin Pediatr,2022,34(6):559-564.
[3] Vernon HJ, Manoli I.Milestones in treatments for inborn errors of metabolism:Reflections on where chemistry and medicine meet[J].Am J Med Genet A,2021,185(11):3350-3358.
[4] Weinreb NJ,Goldblatt J,Villalobos J,et al.Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment[J].J Inherit Metab Dis,2013,36(3):543-553.
[5] Rastall DPW,Amalfitano A.Current and future treatments for lysosomal storage disorders[J].Curr Treat Options Neurol,2017,19(12):45.
[6] Parenti G,Andria G,Ballabio A.Lysosomal storage diseases:From pathophysiology to therapy[J].Annu Rev Med,2015,66:471-486.
[7] Kaplan P,Baris H,De Meirleir L,et al.Revised recommendations for the management of Gaucher disease in children[J].Eur J Pediatr,2013,172(4):447-458.
[8] Sifuentes M,Doroshow R,Hoft R,et al.A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years[J].Mol Genet Metab,2007,90(2):171.
[9] Zhu DQ,Zhu JC,Qiu WJ,et al.A Multi-centre prospective study of the efficacy and safety of alglucosidase alfa in chinese patients with infantile-onset pompe disease[J].Front Pharmacol,2022,13:903488.
[10] Sifuentes M,Doroshow R,Hoft R,et al.A follow-up study of MPS I patients treated with laronidase enzymereplacement therapy for 6 years[J].Mol Genet Metab,2007,90(2):171.
[11] Ebbink BJ,Poelman E,Aarsen FK,et al.Classic infantile Pompe patients approaching adulthood:A cohort study on consequences for the brain[J].Dev Med Child Neurol,2018,60(6):579.
[12] Critchley BJ,Gaspar HB,Benedetti S.Targeting the central nervous system in lysosomal storage diseases:Strategies to deliver therapeutics across the blood-brain barrier[J].Mol Ther,2023,31(3):657-675.
[13] Lewis G,Morrill AM,Conway-Allen SL,et al.Review ofcerliponase alfa:Recombinant human enzyme replacement therapy for late-infantile neuronal ceroid lipofuscinosis type 2 [J].J Child Neurol,2020,35(5):348.
[14] Schulz A,Ajayi T,Specchio N,et al.CLN2study group.Study of intraventricular cerliponase alfa for CLN2 disease[J].N Engl J Med,2018,378(20):1898.
[15] Nestrasil I,Shapiro E,Svatkova A,et al.Intrathecal enzyme replacement therapy reverses cognitive declinein mucopolysaccharidosis type I[J].Am J Med Genet A,2017,173(3):780.
[16] van Gelder CM,Poelman E,Plug I,et al.Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease:An open-label single-center study [J].J Inherit Metab Dis,2016,39(3):383.
[17] Cohen JL,Chakraborty P,Fung-Kee-Fung K,et al.Inutero enzyme-replacement therapy for infantile-onset Pompe's disease[J].N Engl J Med,2022,387(23):2150-2158.
[18] Platt FM,d'Azzo A,Davidson BL,et al.Lysosomal storage diseases[J].Nat Rev Dis Primers,2018,4(1):27-52.
[19] Taylor M,Khan S,Stapleton M,et al.Hematopoieticstem cell transplantation for mucopolysaccharidoses:Past,present,and future [J].Biol Blood Marrow Transplant,2019,25(7):e226-e246.
[20] Prasad VK,Kurtzberg J.Transplant outcomes in mucopolysaccharidoses[J].Semin Hematol,2010,47(1):59-69.
[21] Guffon N,Guffon N,Pettazzoni M,et al.Long term disease burden post-transplantation:Three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT) [J].Orphanet J Rare Dis,2021,16(1):60.
[22] Allewelt H,Taskindoust M,Troy J,et al.Long-term functional outcomes after hematopoietic stem cell transplant for early infantile krabbe disease[J].Biol Blood Marrow Transplant,2018,24(11):2233-2238.
[23] Yoon IC,Bascou NA,Poe MD,et al.Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease[J].Blood,2021,137(13):1719-1730.
[24] Donald A,Björkvall CK,Vellodi A,et al.Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease[J].Orphanet J Rare Dis,2022,17(1):234.
[25] Brunetti-Pierri N,Ferla R,Ginocchio VM,et al.Liver-directed adeno-associated virus-mediated gene therapy for mucopolysaccharidosis type Ⅵ[J].NEJM Evid,2022,1(7):EVIDoa2200052.
[26] Hannah WB,Case LE,Smith EC,et al.Screening data from 19 patients with late-onset Pompe disease for a phase Ⅰ clinical trial of AAV8 vector-mediated gene therapy[J].JIMD Rep,2023,64(5):393-400.
[27] Jensen TL,Gøtzsche CR,Woldbye DPD.Current andfuture prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord[J].Front Mol Neurosci,2021,14:695937.
[28] Biffi A,Montini E,Lorioli L,et al.Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy[J].Science,2013,341:1233158.
[29] Fumagalli F,Calbi V,Natali Sora MG,et al.Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy:Long-term results from a non-randomised,open-label,phase 1/2 trial and expanded access[J].Lancet,2022,399(10322):372-383.
[30] Khan A,Barber DL,Huang J,et al.Lentivirus-mediated gene therapy for Fabry disease [J].Nat Commun,2021,12(1):1178.
[31] Enquist IB,Nilsson E,Ooka A,et al.Effective cell and gene therapy in amurine model of Gaucher disease[J].Proc Natl Acad Sci U S A,2006,103:13819.
[32] Baek R,Coughlan K,Jiang L,et al.Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia,methylmalonic acidemia,and phenylketonuria[J].Nat Commun,2024,15(1):3804.
[33] Kwon JH,Lee YM,Cho JH,et al.Liver-directed gene therapy for murine glycogen storage disease type Ib [J].Hum Mol Genet,2017,26:4395.
[34] Leal AF,Fnu N,Benincore-Flórez E,et al.The landscape of CRISPR/Cas9 for inborn errors of metabolism [J].Mol Genet Metab,2023,138(1):106968.
[35] McCafferty EH,Scott LJ.Migalastat:A review in fabry disease[J].Drugs,2019,79(5):543-554.
[36] Ficicioglu C.Review of miglustat for clinical management in Gaucher disease type 1[J].Ther Clin Risk Manag,2008,4(2):425-431.
[37] Patterson MC,Vecchio D,Prady H,et al.Miglustat for treatment of Niemann-Pick C disease:A randomised controlled study[J].Lancet Neurol,2007,6(9):765-772.
[38] Mengel E,Patterson MC,Da Riol RM,et al.Efficacy and safety of arimoclomol in Niemann-Pick disease type C:Results from a double-blind,randomised,placebo-controlled,multinational phase 2/3 trial of a novel treatment[J].J Inherit Metab Dis,2021,44(6):1463-1480.
[39] Belmatoug N,Di Rocco M,Fraga C,et al.Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe[J].Eur J Intern Med,2017,37:25-32.
[40] Becquemont L.Type 1 Gaucher disease (CYP2D6-eliglustat)[J].Therapie,2017,72(2):323-326.
[41] Daniotti M,la Marca G,Fiorini P,et al.New developments in the treatment of hyperammonemia:Emerging use of carglumic acid [J].Int J Gen Med,2011,4:21-28.
[42] Yap S,Lamireau D,Feillet F,et al.Real-world experience of carglumic acid for methylmalonic and propionic acidurias:An interim analysis of the multicentre observational PROTECT study[J].Drugs RD,2024,24(1):69-80.
[43] Narita A,Shirai K,Itamura S,et al.Ambroxol chaperone therapy for neuronopathic Gaucher disease:A pilot study[J].Ann Clin Transl Neurol,2016,3(3):200-215.
[44] Zhan X,Zhang H,Maegawa GHB,et al.Use ofambroxol as therapy for gaucher disease[J].JAMA Netw Open,2023,6(6):e2319364.
[45] Istaiti M,Revel-Vilk S,Becker-Cohen M,et al.Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson:Investigator initiated registry based on real life data[J].Am J Hematol,2021,96(5):545-551.

遗传代谢病的治疗进展

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