Interruption of enzyme replacement therapy in Gaucher disease

Goldblatt, Jack; Fletcher, Janice M.; McGill, Jim; Szer, Jeff; Wilson, Meredith

doi:10.7196/samj.2016.v106i6.11002

Cited by 6 publications

(4 citation statements)

References 8 publications

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“…Sadly, there are still children with GD1 who die due to the inability of their countries to cope with the high cost of therapy and with the lesser supply of compassionate medications (Cheema, et al 2016). The requirement for lifelong dependency on intravenous therapy, has led to attempts to increase the intervals between the infusions (de Fost, et al 2007), to consideration of "drug holidays" (Goldblatt, et al 2016), acceleration of the infusion rate to 10 min (Zimran, et al 2018a) or switching to alternative modalities, i.e. oral substrate reduction therapy (SRT) (Cox, et al 2000) (as discussed in this review).…”

Section: Enzyme Replacement Therapymentioning

confidence: 99%

How we manage Gaucher Disease in the era of choices

et al. 2018

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Section: Enzyme Replacement Therapymentioning

confidence: 99%

How we manage Gaucher Disease in the era of choices

et al. 2018

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“…Osteoporosis is common in patients with Gaucher disease and may expose patients to intra-operative fractures or loosening of the implant. A few case series of patients undergoing THA were reported during the pre-ERT era [ 20 , 21 , 22 ]. These studies advocated that selected patients with hip osteoarthritis may benefit from this procedure with reasonable risks.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous Bilateral Femoral Osteonecrosis in Gaucher Disease

Cohen

Levy

Bar-Ziv

et al. 2023

Life

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Gaucher disease (GD) is one of the most common lysosomal storage disorders. Bone complications are the most critical irreversible consequence of GD. Osteonecrosis (ON) of the femoral head inevitably leads to osteoarthritis and may be managed by hip arthroplasty. The introduction and worldwide use of therapeutic agents (specifically enzyme replacement therapies (ERT)) lowered the prevalence of osteonecrosis events per patient. We present the cases of two female patients who sustained simultaneous bilateral femoral head osteonecrosis after receiving ERT for long periods while exposed to concomitant risk factors related to femoral head ON. Both patients suffered severe pain and deterioration of their daily activity capabilities, and thus, were offered bilateral hip arthroplasty. Surgery was performed in both hip joints during the same procedure. The current report highlights several key aspects of femoral head ON in young patients with GD.

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Section: Discussionmentioning

confidence: 99%

“…Interruption/withdrawal of regular therapies is not uncommon and it happens for variety of reasons, such as high cost of treatment and associated reimbursement problems, pregnancy, severe adverse reactions to the treatment, proven inefficiency in some patients, manufacturing problems, and various logistical issues. In contrast to other biological therapies, such as enzyme replacement therapies for lysosomal storage disorders (Anbu, Mercer, & Wraith, 2006; Goldblatt, Fletcher, McGill, Szer, & Wilson, 2016), OT‐58‐treated HCU patients could temporarily be managed with the dietary methionine/protein restriction with or without betaine supplementation, the current standard of care, to prevent loss of metabolic control and clinical complications. However, HCU patients might find it rather difficult to return back to dietary management and to remain compliant once being on OT‐58.…”

Section: Discussionmentioning

confidence: 99%

Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

et al. 2020

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Classical homocystinuria (HCU) is an inborn error of metabolism caused by loss of cystathionine β‐synthase (CBS) activity with the concomitant buildup of homocysteine. In knockout (KO) mice, a mouse model of HCU, complete lack of CBS is neonatally lethal. Administration of OT‐58, an enzyme therapy for HCU, during the first 5 weeks of life rescued KO mice survival by preventing liver disease. Here, we studied the impact of a long‐term uninterrupted OT‐58 treatment or its absence beyond the neonatal period on liver pathology and metabolism. Plasma and liver metabolites of KO mice on OT‐58 treatment were substantially improved or normalized compared with those receiving vehicle. Increased plasma activities of alanine aminotransferase and aspartate aminotransferase of vehicle‐injected KO mice suggested the progression of liver damage with age and lack of treatment. At 3 months of age, liver histology showed no signs of hepatopathy in both vehicle‐ and OT‐58‐treated KO mice. However, moderate to severe liver disease, characterized by steatosis, hepatocellular necroses, disorganized endoplasmic reticulum, and swollen mitochondria, developed in 6‐month‐old vehicle‐injected KO mice. KO mice on OT‐58 treatment remained asymptomatic and were indistinguishable from age‐matched healthy controls. Long‐term uninterrupted OT‐58 treatment was essential to prevent severe liver disease in the KO mouse model of HCU.

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Interruption of enzyme replacement therapy in Gaucher disease

Cited by 6 publications

References 8 publications

How we manage Gaucher Disease in the era of choices

How we manage Gaucher Disease in the era of choices

Simultaneous Bilateral Femoral Osteonecrosis in Gaucher Disease

Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

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