Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort

2020 ◽  
Vol 129 (2) ◽  
pp. S48
Author(s):  
Ankit K. Desai ◽  
Cindy Li ◽  
Amy S. Rosenberg ◽  
Priya S. Kishnani
Keyword(s):  
Pompe Disease ◽  
Large Cohort ◽  
Safety And Efficacy ◽  
Short Course ◽  
Infantile Pompe Disease

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S20
Author(s):  
Suhrad Banugaria ◽  
Sean Prater ◽  
Deeksha Bali ◽  
Catherine Rehder ◽  
Amy Rosenberg ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Immune Tolerance ◽  
Pompe Disease ◽  
Tolerance Induction ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Immune Tolerance Induction ◽  
Infantile Pompe Disease

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

2018 ◽  
Vol 266 (1) ◽  
pp. 133-147 ◽  
Author(s):  
Stephan Wenninger ◽  
Eva Greckl ◽  
Haris Babačić ◽  
Kristina Stahl ◽  
Benedikt Schoser
Keyword(s):  
Pilot Study ◽  
Pompe Disease ◽  
Late Onset ◽  
Inspiratory Muscle ◽  
Inspiratory Muscle Training ◽  
Muscle Training ◽  
Safety And Efficacy ◽  
Short And Long Term

scholarly journals Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

2013 ◽  
Vol 8 (1) ◽  
pp. 90 ◽  
Author(s):  
Sean N Prater ◽  
Trusha T Patel ◽  
Anne F Buckley ◽  
Hanna Mandel ◽  
Eugene Vlodavski ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscle Pathology ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

scholarly journals The emerging phenotype of long-term survivors with infantile Pompe disease

2012 ◽  
Vol 14 (9) ◽  
pp. 800-810 ◽  
Author(s):  
Sean N. Prater ◽  
Suhrad G. Banugaria ◽  
Stephanie M. DeArmey ◽  
Eleanor G. Botha ◽  
Erin M. Stege ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

2020 ◽  
Vol 11 ◽  
Author(s):  
Matteo Paoletti ◽  
Anna Pichiecchio ◽  
Giovanna Stefania Colafati ◽  
Giorgio Conte ◽  
Federica Deodato ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Brain Mri ◽  
Enzyme Replacement ◽  
Median Period ◽  
Long Term Follow Up ◽  
Small Cohort ◽  
Infantile Pompe Disease

White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatment (n = 5, median age at MRI = 7.4 years, median period of treatment = 85 months) that showed the classic features of extensive supratentorial WM abnormalities but also unusual findings such as early infratentorial WM abnormalities and late supratentorial U-fiber involvement. Given the recent implementation of ERT and the rarity of the disease, a complete spectrum of presentation and understanding of progressive pathology in the brain of IOPD subjects in treatment remains underacknowledged. The availability of long-term follow-up of IOPD subjects under ERT treatment allows a better insight into the evolution of brain abnormalities in such disease.

scholarly journals Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn

2013 ◽  
Vol 108 (2) ◽  
pp. S29-S30
Author(s):  
Yin-Hsiu Chien ◽  
Wuh-Liang Hwu ◽  
Ni-Chung Lee ◽  
Chun-An Chen ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Enzyme Therapy ◽  
Long Term Follow Up ◽  
Infantile Pompe Disease
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