publication . Article . 2016

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; ...
Open Access English
  • Published: 01 Dec 2016 Journal: Molecular Genetics and Metabolism Reports, volume 9, pages 98-105 (issn: 2214-4269, eissn: 2214-4269, Copyright policy)
  • Publisher: Elsevier
Abstract
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD. However, the efficacy of ERT in patients with IOPD is affected by the presence of symptoms and cross-reactive immunologic material (CRIM) status. W...
Subjects
mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
free text keywords: Research Paper
21 references, page 1 of 2

Hirschhorn, R., Reuser, A.J., Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D.. The Metabolic and Molecular Bases of Inherited Disease. 2001; 8: 3389-3420

van der Ploeg, A.T., Reuser, A.J.. Pompe's disease. Lancet. 2008; 372: 1342-1353 [OpenAIRE] [PubMed]

Güngör, D., Reuser, A.J.. How to describe the clinical spectrum in Pompe disease?. Am. J. Med. Genet. A. 2013; 161A: 399-400 [PubMed]

Kishnani, P.S., Howell, R.R.. Pompe disease in infants and children. J. Pediatr.. 2004; 144: 35-43

Kishnani, P.S., Corzo, D., Nicolino, M.. Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007; 68: 99-109 [PubMed]

van der Ploeg, A.T., Clemens, P.R., Corzo, D., Escolar, D.M., Florence, J., Groeneveld, G.J., Herson, S., Kishnani, P.S., Laforet, P., Lake, S.L., Lange, D.J., Leshner, R.T., Mayhew, J.E., Morgan, C., Nozaki, K., Park, D.J., Pestronk, A., Rosenbloom, B., Skrinar, A., van Capelle, C.I., van der Beek, N.A., Wasserstein, M., Zivkovic, S.A.. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N. Engl. J. Med.. 2010; 15: 1396-1406

Kishnani, P.S., Corzo, D., Leslie, N.D.. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr. Res.. 2009; 66: 329-335 [OpenAIRE] [PubMed]

Prater, S.N., Banugaria, S.G., DeArmey, S.M., Botha, E.G., Stege, E.M., Case, L.E., Jones, H.N., Phornphutkul, C., Wang, R.Y., Young, S.P., Kishnani, P.S.. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet. Med.. 2012; 14: 800-810 [OpenAIRE] [PubMed]

Kemper, A.R., Hwu, W.L., Lloyd-Puryear, M.. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007; 120: 1327-1334

Chien, Y.H., Lee, N.C., Thurberg, B.L., Chiang, S.C., Zhang, X.K., Keutzer, J., Huang, A.C., Wu, M.H., Huang, P.H., Tsai, F.J., Chen, Y.T., Hwu, W.L.. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009; 124: 1116-1125

Chien, Y.H., Hwu, W.L., Lee, N.C.. Pompe disease: early diagnosis and early treatment make a difference. Pediatr. Neonatol.. 2013; 54: 219-227 [PubMed]

Yang, C.F., Liu, H.C., Hsu, T.R., Tsai, F.C., Chiang, S.F., Chiang, C.C., Ho, H.C., Lai, C.J., Yang, T.F., Chuang, S.Y., Lin, C.Y., Niu, D.M.. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am. J. Med. Genet. A. 2014; 164A: 54-61 [PubMed]

Hamoud, H., Khallaf, H.H., Propst, J., Geffrard, S., Botha, E., Pervaiz, M.A.. CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy. JIMD Rep.. 2013; 9: 133-137 [OpenAIRE] [PubMed]

Stenger, E.O., Kazi, Z., Lisi, E., Gambello, M.J., Kishnani, P.. Immune tolerance strategies in siblings with infantile Pompe disease-advantages for a preemptive approach to high-sustained antibody titers. Mol. Genet. Metab. Rep.. 2015; 1 (4): 30-34 [OpenAIRE]

Mendelsohn, N.J., Messinger, Y.H., Rosenberg, A.S., Kishnani, P.S.. Elimination of antibodies to recombinant enzyme in Pompe's disease. N. Engl. J. Med.. 2009; 8 (360): 194-195

21 references, page 1 of 2
Similar Outcomes
20 research outcomes, page 1 of 2
20 research outcomes, page 1 of 2
Abstract
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD. However, the efficacy of ERT in patients with IOPD is affected by the presence of symptoms and cross-reactive immunologic material (CRIM) status. W...
Subjects
mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
free text keywords: Research Paper
21 references, page 1 of 2

Hirschhorn, R., Reuser, A.J., Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D.. The Metabolic and Molecular Bases of Inherited Disease. 2001; 8: 3389-3420

van der Ploeg, A.T., Reuser, A.J.. Pompe's disease. Lancet. 2008; 372: 1342-1353 [OpenAIRE] [PubMed]

Güngör, D., Reuser, A.J.. How to describe the clinical spectrum in Pompe disease?. Am. J. Med. Genet. A. 2013; 161A: 399-400 [PubMed]

Kishnani, P.S., Howell, R.R.. Pompe disease in infants and children. J. Pediatr.. 2004; 144: 35-43

Kishnani, P.S., Corzo, D., Nicolino, M.. Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007; 68: 99-109 [PubMed]

van der Ploeg, A.T., Clemens, P.R., Corzo, D., Escolar, D.M., Florence, J., Groeneveld, G.J., Herson, S., Kishnani, P.S., Laforet, P., Lake, S.L., Lange, D.J., Leshner, R.T., Mayhew, J.E., Morgan, C., Nozaki, K., Park, D.J., Pestronk, A., Rosenbloom, B., Skrinar, A., van Capelle, C.I., van der Beek, N.A., Wasserstein, M., Zivkovic, S.A.. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N. Engl. J. Med.. 2010; 15: 1396-1406

Kishnani, P.S., Corzo, D., Leslie, N.D.. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr. Res.. 2009; 66: 329-335 [OpenAIRE] [PubMed]

Prater, S.N., Banugaria, S.G., DeArmey, S.M., Botha, E.G., Stege, E.M., Case, L.E., Jones, H.N., Phornphutkul, C., Wang, R.Y., Young, S.P., Kishnani, P.S.. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet. Med.. 2012; 14: 800-810 [OpenAIRE] [PubMed]

Kemper, A.R., Hwu, W.L., Lloyd-Puryear, M.. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007; 120: 1327-1334

Chien, Y.H., Lee, N.C., Thurberg, B.L., Chiang, S.C., Zhang, X.K., Keutzer, J., Huang, A.C., Wu, M.H., Huang, P.H., Tsai, F.J., Chen, Y.T., Hwu, W.L.. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009; 124: 1116-1125

Chien, Y.H., Hwu, W.L., Lee, N.C.. Pompe disease: early diagnosis and early treatment make a difference. Pediatr. Neonatol.. 2013; 54: 219-227 [PubMed]

Yang, C.F., Liu, H.C., Hsu, T.R., Tsai, F.C., Chiang, S.F., Chiang, C.C., Ho, H.C., Lai, C.J., Yang, T.F., Chuang, S.Y., Lin, C.Y., Niu, D.M.. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am. J. Med. Genet. A. 2014; 164A: 54-61 [PubMed]

Hamoud, H., Khallaf, H.H., Propst, J., Geffrard, S., Botha, E., Pervaiz, M.A.. CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy. JIMD Rep.. 2013; 9: 133-137 [OpenAIRE] [PubMed]

Stenger, E.O., Kazi, Z., Lisi, E., Gambello, M.J., Kishnani, P.. Immune tolerance strategies in siblings with infantile Pompe disease-advantages for a preemptive approach to high-sustained antibody titers. Mol. Genet. Metab. Rep.. 2015; 1 (4): 30-34 [OpenAIRE]

Mendelsohn, N.J., Messinger, Y.H., Rosenberg, A.S., Kishnani, P.S.. Elimination of antibodies to recombinant enzyme in Pompe's disease. N. Engl. J. Med.. 2009; 8 (360): 194-195

21 references, page 1 of 2
Similar Outcomes
20 research outcomes, page 1 of 2
20 research outcomes, page 1 of 2
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publication . Article . 2016

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; ...