Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Priya S. Kishnani,Paula Goldenberg,Stephanie L. Dearmey,James H. Heller,Daniel K. Benjamin,Sarah P. Young,Deeksha Bali,Sue Ann Smith,Jennifer S. Li,Hanna Mandel,Dwight D. Koeberl,Amy S. Rosenberg,Yuan-Tsong Chen,Yuan-Tsong Chen +13 more
TLDR
The effect of CRIM status on outcome appears to be mediated by antibody responses to the exogenous protein, which predicted reduced overall survival and invasive ventilator-free survival and poorer clinical outcomes in infants with Pompe disease treated with rhGAA.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2010-01-01 and is currently open access. It has received 334 citations till now. The article focuses on the topics: Alglucosidase alfa & Enzyme replacement therapy.read more
Citations
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Journal ArticleDOI
AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer
TL;DR: Data emerging from clinical trials across a broad range of gene therapy applications is reviewed, suggesting common features of immune responses to AAV can be found, suggesting that vector immunogenicity is dose-dependent, and that innate immunity plays an important role in the outcome of gene transfer.
Journal ArticleDOI
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
Carmine Spampanato,Erin J. Feeney,Lishu Li,Monica Cardone,Jeong-A Lim,Fabio Annunziata,Hossein Zare,Roman S. Polishchuk,Rosa Puertollano,Giancarlo Parenti,Andrea Ballabio,Nina Raben +11 more
TL;DR: It is shown that TFEB is a viable therapeutic target in PD: overexpression of T FEB in a new muscle cell culture system and in mouse models of the disease reduced glycogen load and lysosomal size, improved autophagosome processing, and alleviated excessive accumulation of autophagic vacuoles.
Journal ArticleDOI
Immunogenicity to Therapeutic Proteins: Impact on PK/PD and Efficacy
TL;DR: These recommendations are based on risk assessment and include the determination of ADA content (concentration/titer), affinity, immunoglobulin isotype/subtype, and neutralization capacity.
Journal ArticleDOI
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
Suhrad G. Banugaria,Sean N. Prater,Yiu Ki Ng,Joyce A. Kobori,Richard S. Finkel,Roger L. Ladda,Yuan-Tsong Chen,Amy S. Rosenberg,Priya S. Kishnani +8 more
TL;DR: It is indicated that, irrespective of crossreactive immunologic material status, patients with infantile Pompe disease with high sustained antibody titer have an attenuated therapeutic response to enzyme replacement therapy.
Journal ArticleDOI
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Yoav H. Messinger,Nancy J. Mendelsohn,William J. Rhead,David Dimmock,Eli Hershkovitz,Michael Champion,Simon Jones,Rebecca A. Olson,Amy L. White,Cara Wells,Deeksha Bali,Laura E. Case,Sarah P. Young,Amy S. Rosenberg,Priya S. Kishnani +14 more
TL;DR: The combination of rituximab with methotrexate ± intravenous gammaglobulins (IVIG) is an option for tolerance induction of CRIM-negative Pompe to ERT when instituted in the naïve setting or following antibody development.
References
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Nonparametric Estimation from Incomplete Observations
Edward L. Kaplan,Paul Meier +1 more
TL;DR: In this article, the product-limit (PL) estimator was proposed to estimate the proportion of items in the population whose lifetimes would exceed t (in the absence of such losses), without making any assumption about the form of the function P(t).
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Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
TL;DR: Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.
Journal ArticleDOI
Recombinant human acid α-glucosidase Major clinical benefits in infantile-onset Pompe disease
Priya S. Kishnani,Deyanira Corzo,Marc Nicolino,Barry J. Byrne,Hanna Mandel,Wuh-Liang Hwu,Nancy D. Leslie,J. Levine,Carolyn T. Spencer,Marie T. McDonald,Jennifer S. Li,J. Dumontier,M. Halberthal,Yin-Hsiu Chien,Robert J. Hopkin,S. Vijayaraghavan,Daniel Gruskin,D. Bartholomew,A.T. van der Ploeg,John P. Clancy,R. Parini,G. Morin,M Beck,G. S. De la Gastine,M. Jokic,Beth L. Thurberg,Susan M. Richards,Deeksha Bali,M. Davison,M. A. Worden,Yuan-Tsong Chen,James E. Wraith +31 more
TL;DR: Recombinant human acid α-glucosidase is safe and effective for treatment of infantile-onset Pompe disease and may have contributed to their improved response compared to previous trials with recombinant human acids in which patients were older.
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Motor Assessment of the Developing Infant
Martha C. Piper,Johanna Darrah +1 more
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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)
James E. Wraith,Lorne A. Clarke,Michael Beck,Edwin H. Kolodny,Gregory M. Pastores,Joseph Muenzer,David M. Rapoport,Kenneth I. Berger,Stuart J. Swiedler,Emil D. Kakkis,Tanja Braakman,Elenie Chadbourne,Karen Walton-Bowen,Gerald F. Cox +13 more
TL;DR: In patients with MPS I, laronidase significantly improves respiratory function and physical capacity, reduces glycosaminoglycan storage, and has a favorable safety profile.
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