Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan

Pan, Yu-Wen; Tsai, Meng‐Che; Chen, Yang; Yu, Wenhao; Wang, Bow; Yang, Yao-Jong; Chou, Yen-Yin

doi:10.1016/j.ymgmr.2023.100957

Cited by 6 publications

(6 citation statements)

References 44 publications

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“…The efficacy of olipudase alfa was sustained or further improved through 24 months of treatment. These findings are supported by real-world experience of olipudase alfa treatment in two Taiwanese children with type A/B ASMD [ 30 ].…”

Section: What Is the Current Clinical Position Of Olipudase Alfa?supporting

confidence: 66%

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use

Syed

2023

Clin Drug Investig

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Olipudase alfa (Xenpozyme™) is an intravenously administered acid sphingomyelinase enzyme replacement therapy indicated to treat non-CNS manifestations of acid sphingomyelinase deficiency (ASMD) in adult and paediatric patients. It is the first and currently the only disease-modifying treatment for ASMD. Olipudase alfa treatment improves hepatosplenomegaly, lung function and platelet counts, along with multiple other pathological features of ASMD in adult and paediatric patients with ASMD. These benefits are sustained through at least 24 months of treatment. Olipudase alfa is generally well tolerated; infusion-associated reactions (mostly mild) were the most common treatment-related adverse events. Other warnings and precautions associated with its use include risks of hypersensitivity reactions (including anaphylaxis) and elevated transaminase levels seen in clinical trials, and foetal malformation based on animal studies. All these risks are generally manageable. A gradual dose escalation of olipudase alfa, followed by a maintenance phase, is required to reduce the risks of toxic sphingomyelin catabolites build up, infusion-associated reactions and transient transaminase elevations. Supplementary Information The online version contains supplementary material available at 10.1007/s40261-023-01270-x.

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Section: What Is the Current Clinical Position Of Olipudase Alfa?supporting

confidence: 66%

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use

Syed

2023

Clin Drug Investig

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“…One year after receiving the recombinant enzyme, the hepatosplenomegaly of both children improved, their lung disease, bone density, and lipid level profile improved, but no improvement was observed in the CNS and PNS areas. 51 In a clinical trial study, Wasserstein et al investigated the therapeutic effect of Olipudase alfa enzyme on patients with NPD. They found that within 1 year, in 36 adult patients after taking the drug, the capacity of the lungs for CO increased by up to 22%, and the volume of the liver and spleen decreased by up to 28% and 33%, respectively.…”

Section: Ertmentioning

confidence: 99%

“…In another study, two Taiwanese children with NPD type A/B were injected with Olipudase alfa. One year after receiving the recombinant enzyme, the hepatosplenomegaly of both children improved, their lung disease, bone density, and lipid level profile improved, but no improvement was observed in the CNS and PNS areas 51 . In a clinical trial study, Wasserstein et al investigated the therapeutic effect of Olipudase alfa enzyme on patients with NPD.…”

Section: Clinical Featuresmentioning

confidence: 99%

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Hosseini,

Fallahi,

Razban

et al. 2024

Cell Biochemistry & Function

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Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the liver, brain, spleen, lung, and bone marrow cells. This is followed by multiple cell damage, dysfunction of lysosomes, and finally dysfunction of body organs. So far, about 346, 575, and 30 mutations have been reported in SMPD1, NPC1, and NPC2 genes, respectively. Depending on the type of mutation and the clinical symptoms of the disease, the treatment will be different. The general aim of the current study is to review the clinical and molecular characteristics of patients with NPD and study various treatment methods for this disease with a focus on gene therapy approaches.

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“…The guideline development group had extensive discussion about olipudase alfa use in patients with acute or rapidly progressive neurologic disease, as they were excluded from the ASCEND-Peds study (NCT02292654/Sanofi Genzyme) given the inability of the intravenously administered enzyme to cross the blood brain barrier or impact neurologic disease. However, early managed access programs allowed some patients with visceral and neurologic manifestations of ASMD access to olipudase alfa with a focus on ameliorating visceral signs and symptoms [ 130 , 131 ]. National patient organizations surveyed parents of children who received olipudase alfa for at least 12 months, including some patients with visceral and neurologic manifestations of ASMD.…”

Section: Managementmentioning

confidence: 99%

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Geberhiwot

Wasserstein

Wanninayake

et al. 2023

Orphanet J Rare Dis

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Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines standard of care for ASMD patients. Methods The information contained in these guidelines was obtained through a systematic literature review and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research and Evaluation (AGREE II) system as method of choice for the guideline development process. Results The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We produced 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, these guidelines have identified knowledge gaps that must be filled by future research. Conclusion These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).

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Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan

Cited by 6 publications

References 44 publications

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

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