Individualization of long-term enzyme replacement therapy for Gaucher disease

Andersson, Hans; Charrow, Joel; Kaplan, Paige; Mistry, Pramod K.; Pastores, Gregory M.; Prakesh-Cheng, Ainu; Rosenbloom, Barry E.; Scott, C. Ronald; Wappner, Rebecca S.; Weinreb, Neal J.

doi:10.1097/01.gim.0000153660.88672.3c

Cited by 114 publications

(76 citation statements)

References 19 publications

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“…Therapeutic goals and monitoring guidelines for treatment of type 1 Gaucher disease were outlined in 2004 and have been assisting treating physicians in the individualized management of patients with this disease [8][9][10] . However, these guidelines make no specific reference to female patients during pregnancy and lactation.…”

Section: Discussionmentioning

confidence: 99%

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

Sekijima

Ohashi

Ohira

et al. 2010

Clinical Therapeutics

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Enzyme replacement therapy (ERT) with imiglucerase is a well-established, effective treatment for Gaucher disease. However, there have been no reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant.Here, we report a Gaucher disease patient who had successful pregnancies and lactation under ERT, and describe the distribution and excretion of imiglucerase in human milk. Following the peak of serum β-glucocerebrosidase activity, slightly increased enzymatic activity (0.0.16 nmol/h/mL) was observed in the first breast milk after imiglucerase infusion. Our data indicate that a small amount of imiglucerase is excreted into human breast milk.3

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Section: Discussionmentioning

confidence: 99%

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

Sekijima

Ohashi

Ohira

et al. 2010

Clinical Therapeutics

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“…Algunas lesiones focales en los adultos también mejoran. La terapia de reemplazo enzimático ha sido especialmente efectiva entre pacientes pediátricos con afectación ósea, ya que no sólo puede detener la progresión de la enfermedad sino también inducir a la regresión de algunas de las lesiones preexistentes 36 . Actualmente, se ha establecido una dosificación individual según la extensión de la enfermedad.…”

Section: Tratamiento En El Paciente Pediátricounclassified

Enfermedad de Gaucher y su manejo clínico en el paciente pediátrico

et al. 2010

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RESUMENLa enfermedad de Gaucher constituye una enfermedad lisosomal hereditaria que tiene su origen en un defecto a nivel del gen que codifica el enzima betaglucosidasa ácida, cuya deficiencia condiciona la acumulación de glucocerebrósidos en los lisosomas de macrófagos, causando las manifestaciones clínicas del cuadro. En el niño la forma más frecuente es la tipo 2 o variante neuropática, caracterizada por la presencia de visceromegalias, trastornos hematológicos y alteraciones óseas estructurales. A menudo, presenta mal pronóstico, especialmente cuando sólo se disponía de la esplenectomía y trasplante de medula ósea como únicas terapias. Representa la primera enfermedad en la que se ha utilizado terapia enzimática sustitutiva demostrando su seguridad y eficacia durante la última década, permitiendo mejorar la calidad de vida de los pacientes y disminuyendo su morbimortalidad. El objetivo de este trabajo ha sido mostrar una revisión actualizada acerca de la fisiopatología, diagnóstico y manejo clínico-terapéutico de este complejo proceso. Palabras clave. Enfermedad de Gaucher, Niño. ABSTRACT Gaucher's disease and its clinical management in the pediatric patientGaucher disease is an inherited lysosomal disease whose origin lies in a defect at the level of the gene encoding the enzyme acid betaglucosidasa, which deficiency affects the accumulation of glucocerebroside in lysosomes of macrophages, causing the clinical manifestations of the table In children, the most common form is type 2 or neuropathic variant characterized by the presence of visceromegalies, hematological disorders and structural bone changes. Often presents a poor prognosis, especially when they were available splenectomy and bone marrow transplantation as the only therapies. It represents the first disease in which enzyme replacement therapy has been used to demonstrate safety and efficacy over the last decade, enabling improved patients' quality of life and decreasing their morbidity and mortality. The aim of this study was to show an updated review about the pathophysiology, diagnosis and clinical management -treatment of this complex process.

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“…[28] In order to establish the severity of disease and to tailor the initial and maintenance ERT dose, a classification in high-and low-risk type 1 GD patients has been suggested by a panel of experts. [29] www.wjpr.net Vol 6, Issue 8, 2017. 570…”

Section: Enzyme Replacement Therapy (Ert)mentioning

confidence: 99%

Overview of Gaucher Disease and Its Management

Katakam¹

2017

WJPR

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Gaucher disease (GD) is an inherited, rare, lysosomal storage disorder caused by a genetic deficiency of glucocerebrosidase. enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life dependency on biweekly IV therapy. It was more than a decade later when the substrate reduction therapy -an oral treatment -was approved for Gaucher disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene therapy. The aim of this review is to high light the gaucher disease and its management.

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Individualization of long-term enzyme replacement therapy for Gaucher disease

Cited by 114 publications

References 19 publications

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

Enfermedad de Gaucher y su manejo clínico en el paciente pediátrico

Overview of Gaucher Disease and Its Management

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