Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII

Molecular Genetics and Metabolism - Tập 136 - Trang 28-37 - 2022
Heather A. Lau1, David Viskochil2, Pranoot Tanpaiboon3, Antonio Gonzalez-Meneses Lopez4, Esmeralda Martins5, Julie Taylor6, Betsy Malkus6, Lin Zhang6, Agnieszka Jurecka6, Deborah Marsden6
1NYU Grossman School of Medicine, Department of Neurology, New York, NY, USA
2University of Utah, Department of Pediatrics, Salt Lake City, UT, USA
3Rare Disease Institute, Children's National Health System, Washington DC, USA
4Hospital Universitario Virgen del Rocío and Universidad de Sevilla, Seville, Spain
5Centro Hospitalar Universitário do Porto, Hospital de Santo António, Porto, Portugal
6Ultragenyx Pharmaceutical Inc., Novato, CA, USA

Tài liệu tham khảo

Muenzer, 2006, A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome), Genet. Med., 8, 465, 10.1097/01.gim.0000232477.37660.fb Sly, 1973, Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis, J. Pediatr., 82, 249, 10.1016/S0022-3476(73)80162-3 McCafferty, 2019, Vestronidase alfa: a review in mucopolysaccharidosis, 33, 233 Tomatsu, 2009, Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly syndrome), Hum. Mutat., 30, 511, 10.1002/humu.20828 Holtz, 2020, Association between mucopolysaccharidosis type VII and hydrops fetalis, Ultrasound Obstet. Gynecol., 55, 416, 10.1002/uog.20371 Kakkis, 2001, Enzyme-replacement therapy in mucopolysaccharidosis I, N. Engl. J. Med., 344, 182, 10.1056/NEJM200101183440304 Wraith, 2007, Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase), Pediatrics, 120, e37, 10.1542/peds.2006-2156 Wraith, 2004, Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase), J. Pediatr., 144, 581, 10.1016/j.jpeds.2004.01.046 Harmatz, 2006, J. Pediatr., 148, 533, 10.1016/j.jpeds.2005.12.014 Jones, 2020, Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses, Mol. Genet. Metab., 130, 255, 10.1016/j.ymgme.2020.06.004 Melbouci, 2018, Growth impairment in mucopolysaccharidoses, Mol. Genet. Metab., 124, 1, 10.1016/j.ymgme.2018.03.004 Różdżyńska-Świątkowska, 2016, Bioimpedance analysis as a method to evaluate the proportion of fatty and muscle tissues in progressive myopathy in Pompe disease, JIMD Rep., 26, 45, 10.1007/8904_2015_473 Montaño, 2016, Clinical course of Sly syndrome (mucopolysaccharidosis type VII), J. Med. Genet., 53, 403, 10.1136/jmedgenet-2015-103322 O’Connor, 1998, Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function, J. Clin. Invest., 101, 1394, 10.1172/JCI1773 Vogler, 1998, Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease, J. Inherit. Metab. Dis., 21, 575, 10.1023/A:1005423222927 Vogler, 1996, Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis type VII: impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival, Pediatr. Res., 39, 1050, 10.1203/00006450-199606000-00019 Harmatz, 2018, A novel blind start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease, Mol. Genet. Metab., 123, 488, 10.1016/j.ymgme.2018.02.006 Wang, 2020, The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII, Mol. Genet. Metab., 129, 219, 10.1016/j.ymgme.2020.01.003 Gabrielli, 2016, 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment, BMC Med. Genet., 17, 19, 10.1186/s12881-016-0284-4 Lampe, 2014, Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age, JIMD Rep., 14, 99, 10.1007/8904_2013_289 Laraway, 2016, Outcomes of long-term treatment with laronidase in patients with mucopolysaccharidosis type I, J. Pediatr., 178, 219, 10.1016/j.jpeds.2016.08.033 McGill, 2010, Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age—a sibling control study, Clin. Genet., 77, 492, 10.1111/j.1399-0004.2009.01324.x Tajima, 2013, Effects of idursulfase enzyme replacement therapy for mucopolysaccharidosis type II when started in early infancy: comparison in two siblings, Mol. Genet. Metab., 108, 172, 10.1016/j.ymgme.2012.12.010 Tylki-Szymanska, 2012, Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up, Acta Paediatr., 101, e42, 10.1111/j.1651-2227.2011.02385.x Rosenberg, 1991, Normal splenic size in infants and children: sonographic measurements, AJR Am. J. Roentgenol., 157, 119, 10.2214/ajr.157.1.2048509 Dhingra, 2010, Normal values of liver and spleen size by ultrasonography in Indian children, Ind. Pediatr., 47, 487, 10.1007/s13312-010-0090-6 Busner, 2007, The clinical global impressions scale: applying a research tool in clinical practice, Psychiatry (Edgmont.), 4, 28 Bayley, 2006 Tanner, 1985, Clinical longitudinal standards for height and height velocity for North American children, J. Pediatr., 107, 317, 10.1016/S0022-3476(85)80501-1 Komosinska-Vassev, 2014, Urinary glycosaminoglycan (uGAG) excretion in healthy pediatric and adolescent population, Clin. Biochem., 47, 1341, 10.1016/j.clinbiochem.2014.06.012 Beaudet, 1975, Variation in the phenotypic expression of β-glucuronidase deficiency, J. Pediatr., 86, 388, 10.1016/S0022-3476(75)80968-1 Gillett, 2001, Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly, J. Pediatr. Gastroenterol. Nutr., 33, 216, 10.1097/00005176-200108000-00025 Lee, 1985, Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis, Am. J. Dis. Child., 139, 57, 10.1001/archpedi.1985.02140030059029 Staretz-Chacham, 2009, Lysosomal storage disorders in the newborn, Pediatrics, 123, 1191, 10.1542/peds.2008-0635 Vervoort, 1996, Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII, Am. J. Hum. Genet., 58, 457