Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

2004 ◽  
Vol 344 (1-2) ◽  
pp. 101-107 ◽  
Author(s):  
Mario A Cabrera-Salazar ◽  
Erin O'Rourke ◽  
Nadene Henderson ◽  
Howard Wessel ◽  
John A Barranger
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Surrogate Markers ◽  
Enzyme Replacement ◽  
Long Term Follow Up

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 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 Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy

2015 ◽  
Vol 2 (s1) ◽  
pp. S65-S66
Author(s):  
Hanna Mandel ◽  
Eli Hershkovitz ◽  
Abraham Zecharia ◽  
Abraham Lorber ◽  
Lea Bentur ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Therapeutic Effects ◽  
Enzyme Replacement ◽  
Long Term Follow Up

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
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