Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

2012 ◽  
Vol 160C (1) ◽  
pp. 22-29 ◽  
Author(s):  
Gail A. Spiridigliozzi ◽  
James H. Heller ◽  
Priya S. Kishnani
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Adaptive Functioning ◽  
Enzyme Replacement ◽  
Long Term Follow Up ◽  
Infantile Pompe Disease

scholarly journals Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

2018 ◽  
Vol 41 (6) ◽  
pp. 1205-1214 ◽  
Author(s):  
Jan C. van der Meijden ◽  
Michelle E. Kruijshaar ◽  
Laurike Harlaar ◽  
Dimitris Rizopoulos ◽  
Nadine A. M. E. van der Beek ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

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.

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

2010 ◽  
Vol 33 (S3) ◽  
pp. 389-393 ◽  
Author(s):  
Monica Del Rizzo ◽  
Marina Fanin ◽  
Alessia Cerutti ◽  
Chiara Cazzorla ◽  
Ornella Milanesi ◽  
...  
Keyword(s):  
Case Report ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

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 Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tanguy Demaret ◽  
Florence Lacaille ◽  
Camille Wicker ◽  
Jean-Baptiste Arnoux ◽  
Juliette Bouchereau ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Growth Parameters ◽  
Plasma Lipid ◽  
Hematopoietic Stem ◽  
Wolman Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

Abstract Background Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age. In clinical trials, enzyme replacement therapy (ERT) with sebelipase alfa led to improved survival, growth and biological parameters in WD patients followed up to 5 years. Long-term follow-up and health-related quality of life (HRQoL) evaluation are lacking. Results We performed a nationwide, retrospective study of sebelipase alfa in WD patients. Five patients with abolished LAL activity and bi-allelic LIPA mutations were included with a median follow-up of 7 years (1–10). ERT was initiated at a median age of 1 month (0–4). Infusion tolerance was excellent on the long-term with only one patient requiring systematic pre-medication. Cholestyramine, fat-soluble vitamin supplements and a specific diet (high in medium-chain triglycerides and low in long-chain fatty acids) were prescribed. Liver function tests, plasma lipid profiles, fat-soluble vitamin levels and growth parameters improved. Three patients transiently exhibited a neuromyopathic phenotype (footdrop gait, waddling walk or muscle fatigue) but electromyography and muscle strength testing were normal. At last follow-up, all patients were alive with normal growth parameters and a satisfactory HRQoL, no patient had special education needs, and one patient required parenteral nutrition since an acute gastroenteritis. Conclusions Early ERT initiation allowed 100% survival with positive outcomes. Very long-term follow-up and hematopoietic stem cell transplantation while on ERT should be evaluated to strengthen the benefits of sebelipase alfa.

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
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