4.5 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

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

Yu-Wen Pan et al.

Summary: This study evaluated the major outcomes of olipudase alfa treatment in pediatric chronic ASMD patients. The results showed improvements in hepatic and splenic volumes, liver stiffness, height, weight, lipid profiles, biomarker levels, interstitial lung disease scores, bone mineral densities, and walking distance. There were no significant changes in neurocognitive function and peripheral nerve conduction velocities. Conclusion: Olipudase alfa is safe and effective in improving major systemic clinical outcomes for pediatric chronic ASMD patients.

MOLECULAR GENETICS AND METABOLISM REPORTS (2023)

Article Medicine, General & Internal

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Wladimir Mauhin et al.

Summary: Acid sphingomyelinase deficiency (ASMD) is a rare inherited disorder characterized by the accumulation of sphingomyelin in various organs. The prognosis and clinical manifestations of ASMD vary, and early diagnosis and appropriate management are crucial for reducing complications and mortality.

JOURNAL OF CLINICAL MEDICINE (2022)

Article Genetics & Heredity

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Melissa Wasserstein et al.

Summary: This study aimed to evaluate the efficacy and safety of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency (ASMD). The results showed significant improvements in lung function, spleen volume, and liver volume in the olipudase alfa group compared with the placebo group, as well as other clinical outcomes. The treatment was well tolerated, with no serious treatment-related adverse events.

GENETICS IN MEDICINE (2022)

Review Genetics & Heredity

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

A. Dardis et al.

Summary: This article provides an overview of Gaucher disease (GD) and discusses the challenges and gaps in GD diagnosis. To ensure timely and accurate diagnosis for patients with GD, evidence-based guidelines for the technical implementation and interpretation of biochemical and genetic testing have been developed. The guidelines aim to promote equitable access to GD diagnosis and standardize procedures.

ORPHANET JOURNAL OF RARE DISEASES (2022)

Article Genetics & Heredity

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Francyne Kubaski et al.

Summary: This study utilized UPLC-MS/MS to quantify LysoSM and LysoSM509 levels in DBS of ASMD patients and found significantly elevated levels of LysoSM and LysoSM509 in ASMD patients. Therefore, this method holds importance in the diagnosis and newborn screening of ASMD.

ORPHANET JOURNAL OF RARE DISEASES (2022)

Article Genetics & Heredity

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

George A. Diaz et al.

Summary: This study reported 2-year safety and efficacy data of 20 children with ASMD who received Olipudase alfa treatment. Results showed significant reductions in spleen and liver volumes, increase in DLCO, stable lipid profiles and liver function tests, and improvement in height Z-scores during the second year of treatment.

ORPHANET JOURNAL OF RARE DISEASES (2022)

Article Health Care Sciences & Services

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

Sharon J. Chin et al.

Summary: This study examined the number of lysosomal storage disorders (LSD) diagnosed in the multicultural Australian population over a 12-year period. The study found that the prevalence of LSD in the Australian population was considerably higher than previously reported, with Fabry disease being the most prevalent. The study also highlighted the need for physicians to consider LSD in symptomatic adults and adjust newborn screening programs accordingly.

LANCET REGIONAL HEALTH-WESTERN PACIFIC (2022)

Review Biochemistry & Molecular Biology

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

Carolina Pinto et al.

Summary: ASMD is a lysosomal storage disease caused by deficient ASM enzyme activity, leading to various clinical features. ASM enzyme replacement therapy is currently in clinical trial to address the underlying pathology of the disease. It is critical to better understand ASMD for improved diagnosis and monitoring.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B

Jiayue Hu et al.

Summary: Niemann-Pick disease Types A and B are caused by variants in the SMPD1 gene, with significant correlations between laboratory findings and clinical presentations. Various SMPD1 variants were associated with different clinical forms of NPA/B. This study contributes to understanding the natural history of the disease and developing effective treatments.

HUMAN MUTATION (2021)

Article Multidisciplinary Sciences

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Robin Pokrzywinski et al.

Summary: The study revealed that ASMD poses a significant burden on both patients and caregivers, impacting their physical, emotional, social, and financial well-being. Caregivers are particularly affected, needing to make lifestyle adjustments and take on the responsibility of medical decision-making.

SCIENTIFIC REPORTS (2021)

Article Genetics & Heredity

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

George A. Diaz et al.

Summary: The study evaluated olipudase alfa enzyme replacement therapy in children with ASMD, showing that the treatment was well-tolerated with significant improvements in disease pathology and various clinical endpoints.

GENETICS IN MEDICINE (2021)

Article Genetics & Heredity

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Margaret M. McGovern et al.

Summary: This study provides important insights into the clinical features and disease burden of chronic ASMD over time in children and adults from multiple countries. Common clinical characteristics such as splenomegaly, hepatomegaly, and interstitial lung disease tended to worsen gradually, with splenomegaly being moderate or severe in a majority of individuals at baseline and subsequent visits. The study also highlights the impact of ASMD on mortality, with individuals with severe splenomegaly or prior splenectomy having a higher risk of death during the follow-up period.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Article Respiratory System

Interstitial lung disease in lysosomal storage disorders

Raphael Borie et al.

Summary: Lysosomes are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are inherited diseases caused by gene mutations, with some associated with lung involvement. Early diagnosis and enzyme replacement therapy are crucial for preventing irreversible organ damage in Gaucher disease, Niemann-Pick disease, and Fabry disease.

EUROPEAN RESPIRATORY REVIEW (2021)

Article Biochemistry & Molecular Biology

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications

Valentina La Cognata et al.

Summary: Lysosomal storage diseases (LSDs) are a heterogeneous group of monogenic metabolic disorders with challenging diagnosis due to their variable clinical manifestations and genetic heterogeneity. Recent advancements in rapid diagnostic methods have made it possible for certain LSDs to be included in national newborn screening programs. Evaluation of a targeted next-generation sequencing panel designed for LSDs shows that it is a fast, accurate, and cost-effective process that can improve diagnostic speed and reduce costs.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

Margo Sheck Breilyn et al.

Summary: LSM levels were elevated in all patients with ASMD, with higher levels in patients with infantile ASMD compared to chronic ASMD. Among patients with chronic ASMD, LSM levels were positively associated with clinical severity.

MOLECULAR GENETICS AND METABOLISM REPORTS (2021)

Review Biochemistry & Molecular Biology

Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease

Bernadette Breiden et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Review Endocrinology & Metabolism

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy

Simon A. Jones et al.

MOLECULAR GENETICS AND METABOLISM (2020)

Article Gastroenterology & Hepatology

The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B

Yuan Liu et al.

LIVER TRANSPLANTATION (2019)

Article Medical Laboratory Technology

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

Giulia Polo et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2019)

Article Biochemistry & Molecular Biology

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Rohini Sidhu et al.

JOURNAL OF LIPID RESEARCH (2019)

Article Biochemistry & Molecular Biology

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C

Masamitsu Maekawa et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Review Biochemistry & Molecular Biology

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases

Paola Faverio et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Editorial Material Cardiac & Cardiovascular Systems

Lung transplantation in a patient with Niemann-Pick disease

Hannah Mannem et al.

JOURNAL OF HEART AND LUNG TRANSPLANTATION (2019)

Letter Cardiac & Cardiovascular Systems

Successful lung transplantation in a patient with Niemann-Pick disease

Feihong Ding et al.

JOURNAL OF HEART AND LUNG TRANSPLANTATION (2019)

Review Endocrinology & Metabolism

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Melissa Wasserstein et al.

MOLECULAR GENETICS AND METABOLISM (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Endocrinology & Metabolism

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Monique Piraud et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Article Endocrinology & Metabolism

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

Melissa P. Wasserstein et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Article Endocrinology & Metabolism

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

M. Voorink-Moret et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Article Medical Laboratory Technology

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

Federica Deodato et al.

CLINICA CHIMICA ACTA (2018)

Article Genetics & Heredity

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Margaret M. McGovern et al.

GENETICS IN MEDICINE (2017)

Review Genetics & Heredity

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Margaret M. McGovern et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Medical Laboratory Technology

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Giulia Polo et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)

Article Biochemistry & Molecular Biology

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

Mariana Acuna et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Stefania Zampieri et al.

HUMAN MUTATION (2016)

Article Genetics & Heredity

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

Prajnya Ranganath et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Review Endocrinology & Metabolism

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Marie T. Vanier et al.

MOLECULAR GENETICS AND METABOLISM (2016)

Article Endocrinology & Metabolism

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Susan Elliott et al.

MOLECULAR GENETICS AND METABOLISM (2016)

Article Endocrinology & Metabolism

Types A and B Niemann-Pick disease

Edward H. Schuchman et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Letter Medical Laboratory Technology

Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry

Farideh Ghomashchi et al.

CLINICAL CHEMISTRY (2015)

Article Endocrinology & Metabolism

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Melissa P. Wasserstein et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Article Genetics & Heredity

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Stephanie Van Groenendael et al.

ORPHANET JOURNAL OF RARE DISEASES (2015)

Article Genetics & Heredity

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Anne-Katrin Giese et al.

ORPHANET JOURNAL OF RARE DISEASES (2015)

Article Immunology

Liver Transplantation in Patients With Niemann-Pick Disease - Single-Center Experience

G. R. Coelho et al.

TRANSPLANTATION PROCEEDINGS (2015)

Review Medical Laboratory Technology

Newborn Screening for Lysosomal Storage Diseases

Michael H. Gelb et al.

CLINICAL CHEMISTRY (2015)

Article Pediatrics

Epidemiology of lysosomal storage diseases in Sweden

Malin Hult et al.

ACTA PAEDIATRICA (2014)

Article Genetics & Heredity

Morbidity and mortality in type B Niemann-Pick disease

Margaret M. McGovern et al.

GENETICS IN MEDICINE (2013)

Article Endocrinology & Metabolism

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B

Melissa Wasserstein et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2013)

Article Pathology

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

Beth L. Thurberg et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)

Article Medical Laboratory Technology

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes

Carole S. Elbin et al.

CLINICA CHIMICA ACTA (2011)

Article Medicine, General & Internal

AGREE II: advancing guideline development, reporting and evaluation in health care

Melissa C. Brouwers et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2010)

Article Endocrinology & Metabolism

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Helena Poupetova et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Genetics & Heredity

Psychosocial Aspects of Patients With Niemann-Pick Disease, Type B

Shelly L. Henderson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Review Biochemistry & Molecular Biology

Secondary lipid accumulation in lysosomal disease

Steven U. Walkley et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)

Review Endocrinology & Metabolism

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

E. H. Schuchman

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Genetics & Heredity

Imprinting at the SMPD1 locus:: Implications for acid sphingomyelinase-deficient Niemann-Pick disease

CM Simonaro et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Radiology, Nuclear Medicine & Medical Imaging

Type B Niemann-Pick disease: Findings at chest radiography, thin-section CT, and pulmonary function testing

DS Mendelson et al.

RADIOLOGY (2006)

Article Endocrinology & Metabolism

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate

OP van Diggelen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

Article Biochemistry & Molecular Biology

Prevalence of lysosomal storage diseases in Portugal

R Pinto et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2004)

Article Pediatrics

Lipid abnormalities in children with types A and B Niemann Pick disease

MM McGovern et al.

JOURNAL OF PEDIATRICS (2004)

Article Genetics & Heredity

Human gene mutation database (HGMD®):: 2003 update

PD Stenson et al.

HUMAN MUTATION (2003)

Article Genetics & Heredity

Niemann-Pick disease type B: An unusual clinical presentation with multiple vertebral fractures

P Volders et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Critical Care Medicine

Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage

AG Nicholson et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2002)

Article Genetics & Heredity

Nomenclature for the description of human sequence variations

JT den Dunnen et al.

HUMAN GENETICS (2001)

Article Multidisciplinary Sciences

Identification of HE1 as the second gene of Niemann-Pick C disease

S Naureckiene et al.

SCIENCE (2000)