☆ 4.7 Review

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Discovery of Aficamten (CK-274), a Next-Generation Cardiac Myosin Inhibitor for the Treatment of Hypertrophic Cardiomyopathy

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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser et al.

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Article Clinical Neurology

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Diaz-Manera et al.

Summary: In this study, treatment with avalglucosidase alfa showed clinically meaningful improvement in respiratory function, ambulation, and functional endurance compared to alglucosidase alfa, with no new safety signals reported. An open-label extended-treatment period is ongoing to confirm the long-term safety and efficacy of avalglucosidase alfa.

LANCET NEUROLOGY (2021)

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Article Multidisciplinary Sciences

Lentivirus-mediated gene therapy for Fabry disease

Aneal Khan et al.

Summary: Enzyme and chaperone therapies for Fabry disease are expensive, intrusive, and not fully efficacious. A pilot study was conducted using gene therapy with autologous, lentivirus-transduced hematopoietic cells expressing alpha-galactosidase A, showing safety and promising results in five patients.

NATURE COMMUNICATIONS (2021)

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Article Cardiac & Cardiovascular Systems

2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy

Steve R. Ommen et al.

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY (2021)

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Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial

John A. Spertus et al.

Summary: Mavacamten significantly improved the health status of patients with symptomatic obstructive hypertrophic cardiomyopathy compared to placebo, with a low number needed to treat for marked improvement. Given that the primary goals of treatment are to improve symptoms, physical and social function, and quality of life, mavacamten represents a new potential strategy for achieving these goals.

LANCET (2021)

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Article Cardiac & Cardiovascular Systems

Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease

Zongzhe Li et al.

Summary: Danon disease is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. A specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene showed cardiac-only symptoms, including frequent ventricular tachycardia, intraventricular block, and hypertrophic cardiomyopathy. Minigene assays revealed that the mutation led to abnormal intron retention, resulting in protein truncation and instability.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2021)

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Review Cardiac & Cardiovascular Systems

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment

Zeyi Cheng et al.

Summary: Hypertrophic cardiomyopathy is a common inherited cardiovascular disease caused by mutations in multiple genes, leading to a complex clinical profile. Current treatments focus on slowing disease progression and symptom relief, with research efforts aimed at developing novel therapies targeting the disease.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2021)

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Article Cardiac & Cardiovascular Systems

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Luis R. Lopes et al.

Summary: The study identified a low but pathogenic frequency of heterozygous ALPK3tv in patients with HCM, which was confirmed through family co segregation studies. ALPK3tv carriers exhibited a characteristic HCM phenotype, showing different clinical and imaging features compared to patients with sarcomere gene variants.

EUROPEAN HEART JOURNAL (2021)

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Review Transplantation

Precision medicine in Fabry disease

Malte Lenders et al.

Summary: Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency and resulting in severe complications such as renal failure, cardiomyopathy, and cerebrovascular events. Current treatment options include enzyme replacement therapies and oral pharmacological chaperones, but adverse reactions like infusion-associated reactions and anti-drug antibodies formation may limit efficacy.

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Review Cell Biology

Fabry Cardiomyopathy: Current Practice and Future Directions

Jeffrey Yim et al.

Summary: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in deficient galactosidase A enzyme. It is characterized by multi-system involvement, with increased left ventricular wall thickness being the main cardiac manifestation. Modern technologies such as cardiac biomarkers, point-of-care dried blood spot testing, and advanced imaging modalities have significantly improved the detection of Fabry cardiomyopathy.

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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

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A novel MYBPC3 c.2737+1 (IVS26) G>ψψψT mutation responsible for high-risk hypertrophic cardiomyopathy

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Developments in the treatment of Fabry disease

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JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Switching from agalsidase alfa to pegunigalsidase alfa for treating Fabry disease: One year of treatment data from BRIDGE, a phase III open label study

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Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease

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ESC HEART FAILURE (2020)

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Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

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AMERICAN HEART JOURNAL (2020)

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Article Cell Biology

Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease

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SCIENCE TRANSLATIONAL MEDICINE (2020)

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THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2020)

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AAV9 gene transfer of cMyBPC N-terminal domains ameliorates cardiomyopathy in cMyBPC-deficient mice

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JCI INSIGHT (2020)

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Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy

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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)

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Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy

Yasuteru Nakashima et al.

CIRCULATION JOURNAL (2020)

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Article Medicine, General & Internal

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

Iacopo Olivotto et al.

LANCET (2020)

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MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)

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GENETICS IN MEDICINE (2019)

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QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2019)

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CARDIOVASCULAR PATHOLOGY (2019)

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INTERNATIONAL JOURNAL OF CARDIOLOGY (2019)

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Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy

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MOLECULAR THERAPY (2019)

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MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

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Article Pharmacology & Pharmacy

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XENOBIOTICA (2019)

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LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion

Congwu Chi et al.

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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

Xuling Zhu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Review Biochemistry & Molecular Biology

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BIOMOLECULES (2019)

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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Dominique P. Germain et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2019)

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Improved efficacy of a next-generation ERT in murine Pompe disease

Su Xu et al.

JCI INSIGHT (2019)

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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Berendine J. Ebbink et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)

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JOURNAL OF HUMAN GENETICS (2018)

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Fabry disease revisited: Management and treatment recommendations for adult patients

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MOLECULAR GENETICS AND METABOLISM (2018)

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Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

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JACC-HEART FAILURE (2018)

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

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PLOS ONE (2018)

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CLINICAL GENETICS (2018)

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

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Impaired mitophagy facilitates mitochondrial damage in Danon disease

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

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SCIENCE TRANSLATIONAL MEDICINE (2017)

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Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction

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Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing

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FEBS LETTERS (2016)

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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

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A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

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SCIENCE (2016)

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JAMA CARDIOLOGY (2016)

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A Small Molecule Inhibitor of Sarcomere Contractility Acutely Relieves Left Ventricular Outflow Tract Obstruction in Feline Hypertrophic Cardiomyopathy

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

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New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

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Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice

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HEART (2015)

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

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Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2014)

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Cardiac I-1c Overexpression With Reengineered AAV Improves Cardiac Function in Swine Ischemic Heart Failure

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Sustained Correction of Motoneuron Histopathology Following Intramuscular Delivery of AAV in Pompe Mice

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A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

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MOLECULAR THERAPY (2014)

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Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients with Pompe Disease

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Phase I/II Trial of Adeno-Associated Virus-Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes

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Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease

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MOLECULAR THERAPY (2013)

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Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum

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CLINICAL NEUROPATHOLOGY (2012)

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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

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β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

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MOLECULAR GENETICS AND METABOLISM (2012)

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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

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MOLECULAR GENETICS AND METABOLISM (2012)

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Article Cardiac & Cardiovascular Systems

Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease

Constantinos O'Mahony et al.

EUROPACE (2011)

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

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GENETICS IN MEDICINE (2011)

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Natural history of Danon disease

Dana Boucek et al.

GENETICS IN MEDICINE (2011)

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Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

Dwight D. Koeberl et al.

MOLECULAR GENETICS AND METABOLISM (2011)

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Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood-Brain Barrier Gene Delivery

Haiyan Fu et al.

MOLECULAR THERAPY (2011)

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Editorial Material Cardiac & Cardiovascular Systems

Is genotype clinically useful in predicting prognosis in hypertrophic cardiomyopathy? Genetics and Clinical Destiny: Improving Care in Hypertrophic Cardiomyopathy

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CIRCULATION (2010)

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LAMP2 Microdeletions in Patients With Danon Disease

Zhao Yang et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2010)

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Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers

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EUROPACE (2010)

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Paola de Filippi et al.

GENETICS IN MEDICINE (2010)

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Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Torquil Watt et al.

GENETICS IN MEDICINE (2010)

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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

Bruno Bembi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

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Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

Anupam Chakrapani et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

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Article Clinical Neurology

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

S. Strothotte et al.

JOURNAL OF NEUROLOGY (2010)

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Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

Francesca Girolami et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)

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Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Paul Labrousse et al.

MOLECULAR GENETICS AND METABOLISM (2010)

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Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease

Baodong Sun et al.

MOLECULAR THERAPY (2010)

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Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease

Cathryn S. Mah et al.

MOLECULAR THERAPY (2010)

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FUNCTIONAL PERFORMANCE AND MUSCLE STRENGTH PHENOTYPES IN MEN AND WOMEN WITH DANON DISEASE

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MUSCLE & NERVE (2010)

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Effect of enzyme therapy in juvenile patients with Pompe disease A three-year open-label study

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NEUROMUSCULAR DISORDERS (2010)

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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.

Ans T. van der Ploeg et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

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Review Genetics & Heredity

Fabry disease

Dominique P. Germain

ORPHANET JOURNAL OF RARE DISEASES (2010)

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Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment

Frank Weidemann et al.

CIRCULATION (2009)

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Sudden Deaths in Young Competitive Athletes Analysis of 1866 Deaths in the United States, 1980-2006

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CIRCULATION (2009)

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Article Biochemistry & Molecular Biology

Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

W. Glenn L. Kerrick et al.

FASEB JOURNAL (2009)

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Article Genetics & Heredity

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino et al.

GENETICS IN MEDICINE (2009)

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High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Shingo Kumamoto et al.

MOLECULAR GENETICS AND METABOLISM (2009)

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Article Biotechnology & Applied Microbiology

Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

Yunxiang Zhu et al.

MOLECULAR THERAPY (2009)

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Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Priya S. Kishnani et al.

PEDIATRIC RESEARCH (2009)

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Identifying modifier genes of monogenic disease: strategies and difficulties

Emmanuelle Genin et al.

HUMAN GENETICS (2008)

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Article Biochemistry & Molecular Biology

Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy

Christian Geier et al.

HUMAN MOLECULAR GENETICS (2008)

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Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study

Toshhihiro Takenaka et al.

JOURNAL OF CARDIOLOGY (2008)

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Contribution of the Myosin Binding Protein C Motif to Functional Effects in Permeabilized Rat Trabeculae

Maria V. Razumova et al.

JOURNAL OF GENERAL PHYSIOLOGY (2008)

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Review Medicine, General & Internal

Lysosomal storage disease 3 - Fabry's disease

Yuri A. Zarate et al.

LANCET (2008)

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Clinical features of late-onset Pompe disease: A prospective cohort study

John H. J. Wokke et al.

MUSCLE & NERVE (2008)

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Editorial Material Clinical Neurology

Extension of the clinical spectrum of Danon disease

A. J. van der Kooi et al.

NEUROLOGY (2008)

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. Aerts et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

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Article Cardiac & Cardiovascular Systems

Heart in Anderson-Fabry disease and other lysosomal storage disorders

Ales Linhart et al.

HEART (2007)

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Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors

Cathryn Mah et al.

MOLECULAR THERAPY (2007)

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Article Clinical Neurology

Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease

P. S. Kishnani et al.

NEUROLOGY (2007)

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani et al.

JOURNAL OF PEDIATRICS (2006)

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Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

Z Yang et al.

CIRCULATION (2005)

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The variation of morphological and functional cardiac manifestation in Fabry disease:: potential implications for the time course of the disease

F Weidemann et al.

EUROPEAN HEART JOURNAL (2005)

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Article Biotechnology & Applied Microbiology

Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

BD Sun et al.

MOLECULAR THERAPY (2005)

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Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

O Musumeci et al.

NEUROMUSCULAR DISORDERS (2005)

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Danon's disease as a cause of hypertrophic cardiomyopathy:: a systematic survey

P Charron et al.

HEART (2004)

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Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism

SP Harris et al.

CIRCULATION RESEARCH (2004)

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Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: An independent marker of sudden death risk in young patients

L Monserrat et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)

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The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

HMP van den Hout et al.

PEDIATRICS (2003)

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Article Cardiac & Cardiovascular Systems

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy

M Arad et al.

CIRCULATION (2003)

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Review Cell Biology

Mannose 6-phosphate receptors: New twists in the tale

P Ghosh et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)

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Article Cardiac & Cardiovascular Systems

Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease - Evidence for a disease specific abnormality of the myocardial interstitium

JCC Moon et al.

EUROPEAN HEART JOURNAL (2003)

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Article Biotechnology & Applied Microbiology

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors

TJ Fraites et al.

MOLECULAR THERAPY (2002)

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Article Medicine, General & Internal

Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.

CM Eng et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)

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Article Multidisciplinary Sciences

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

I Nishino et al.

NATURE (2000)

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Article Pediatrics

Identification of two subtypes of infantile acid maltase deficiency

AE Slonim et al.

JOURNAL OF PEDIATRICS (2000)

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