更新于：2024-11-01

Glycogen Storage Disease Type IV

糖原贮积病Ⅳ型

更新于：2024-11-01

基本信息

别名

1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency、4ｶﾞﾀﾄｳｹﾞﾝﾁｮｿﾞｳｼｮｳｶﾞｲ、AMYLOPECTINOSIS

+ [91]

简介

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

关联

项与糖原贮积病Ⅳ型相关的药物

Triheptanoin

三庚酸甘油酯

靶点-

作用机制

脂肪酸替代品 [+1]

在研机构

Ultragenyx Pharmaceutical, Inc.

原研机构

Baylor Research Institute

在研适应症

脂肪酸氧化代谢病 [+3]

非在研适应症

肌萎缩侧索硬化 [+19]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期2020-06-30

GHF-201

靶点

LAMP-1

作用机制

LAMP-1抑制剂

在研机构

Golden Heart Flower Ltd.

原研机构

Golden Heart Flower Ltd.

在研适应症

成人多聚糖体病 [+1]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

4s3-006

靶点-

作用机制-

在研机构-

原研机构

Valerion Therapeutics LLC

在研适应症-

非在研适应症

糖原贮积病Ⅳ型

最高研发阶段无进展

首次获批国家/地区-

首次获批日期1800-01-20

项与糖原贮积病Ⅳ型相关的临床试验

NCT02385162 / WithdrawnN/A

Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

开始日期2018-08-20

申办/合作机构-

NCT02635269 / Unknown statusN/AIIT

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

开始日期2016-01-01

申办/合作机构

Rigshospitalet

NCT02683512 / RecruitingN/AIIT

GBE Deficiency (GSD IV and APBD) Natural History Study

Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.

开始日期2015-12-01

申办/合作机构

Duke University

100 项与糖原贮积病Ⅳ型相关的临床结果

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100 项与糖原贮积病Ⅳ型相关的转化医学

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0 项与糖原贮积病Ⅳ型相关的专利（医药）

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304

项与糖原贮积病Ⅳ型相关的文献（医药）

2024-11-01·The Journal of Immunology

N-Glycan Branching Regulates BTLA Opposite to PD-1 to Limit T Cell Hyperactivity Induced by Branching Deficiency

Article

作者: Balakrishnan, Aswath ; Dang, Justin ; Demetriou, Michael ; Sánchez, Christofer Daniel ; Zhou, Raymond W. ; Mkhikian, Haik ; Mortales, Christie-Lynn ; Saryan, Hayk

AbstractN-glycan branching is a potent and multifaceted negative regulator of proinflammatory T cell and B cell function. By promoting multivalent galectin–glycoprotein lattice formation at the cell surface, branching regulates clustering and/or endocytosis of the TCR complex (TCR+CD4/CD8), CD45, CD25, BCR, TLR2 and TLR4 to inhibit T cell and B cell activation/proliferation and proinflammatory TH1 and TH17 over TH2 and induced T regulatory cell responses. In addition, branching promotes cell surface retention of the growth inhibitory receptor CTLA-4. However, the role of N-glycan branching in regulating cell surface levels of other checkpoint receptors such as BTLA (B and T lymphocyte attenuator) and PD-1 (programmed cell death protein 1) is unknown. In this study, we report that whereas branching significantly enhances PD-1 cell surface expression by reducing loss from endocytosis, the opposite occurs with BTLA in both T cells and B cells. T cell hyperactivity induced by branching deficiency was opposed by BTLA ligation proportional to increased BTLA expression. Other members of the BTLA/HVEM (herpesvirus entry mediator) signaling axis in T cells, including HVEM, LIGHT, and CD160, are largely unaltered by branching. Thus, branching-mediated endocytosis of BTLA is opposite of branching-induced inhibition of PD-1 endocytosis. In this manner, branching deficiency–induced upregulation of BTLA appears to serve as a checkpoint to limit extreme T cell hyperactivity and proinflammatory outcomes in T cells with low branching.

2024-07-01·American Journal of Medical Genetics Part A

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

Article

作者: Crane, Haley M ; Drivas, Theodore G ; Conway, Laura ; Asher, Stephanie ; Kallish, Staci

AbstractRBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1‐related disease. This study carried out a phenotypic comparison between RBCK1‐related disease and GSD IV to identify features that clinically differentiate these diagnoses. Literature review and retrospective chart review identified 25 individuals with RBCK1‐related disease and 36 with the neuromuscular subtype of GSD IV. Clinical features were evaluated to assess for statistically significant differences between the conditions. At a system level, any cardiac, autoinflammation, immunodeficiency, growth, or dermatologic involvement were suggestive of RBCK1, whereas any respiratory involvement suggested GSD IV. Several features warrant further exploration as predictors of RBCK1, such as generalized weakness, heart transplant, and recurrent infections, among others. Distinguishing RBCK1‐related disease will facilitate correct diagnoses and pave the way for accurately identifying affected individuals, as well as for developing management recommendations, treatment, and an enhanced understanding of the natural history. This knowledge may also inform which individuals thought to have GSD IV should undergo reevaluation for RBCK1.

2024-06-24·JCI Insight

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

Article

作者: Jeck, William R ; Porta, Gilda ; Sood, Vikrant ; LaVecchio, Katy ; Flores, Leticia S ; Koch, Rebecca L ; Soler-Alfonso, Claudia ; Alam, Seema ; Kiely, Bridget T ; Kishnani, Priya S ; Choi, Su Jin

BackgroundGlycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally been categorized based on primary hepatic or neuromuscular involvement, with hepatic GSD IV subclassified as discrete subtypes: classic (progressive) and nonprogressive.MethodsTo better understand the progression of liver disease in GSD IV, we present clinical and histopathology data from 23 patients from around the world and characterized the liver involvement in the Gbe1ys/ys knockin mouse model.ResultsWe propose an alternative to the established subtype-based terminology for characterizing liver disease in GSD IV and recognize 3 tiers of disease severity: (i) "severe progressive" liver disease, (ii) "intermediate progressive" liver disease, and (iii) "attenuated" liver disease. Analysis of liver pathology revealed that risk for liver failure cannot be predicted from liver biopsy findings alone in individuals affected by GSD IV. Moreover, analysis of postmortem liver pathology from an individual who died over 40 years after being diagnosed with nonprogressive hepatic GSD IV in childhood verified that liver fibrosis did not regress. Last, characterization of the liver involvement in a mouse model known to recapitulate the adult-onset neurodegenerative form of GSD IV (Gbe1ys/ys mouse model) demonstrated hepatic disease.ConclusionOur findings challenge the established subtype-based view of GSD IV and suggest that liver disease severity among patients with GSD IV represents a disease continuum.Trial registrationClinicalTrials.gov NCT02683512FundingNone.

项与糖原贮积病Ⅳ型相关的新闻（医药）

2021-04-09

·GlobeNewswire

Worldwide Continuous Positive Airway Pressure Industry to 2026 - Development of Smart CPAP Devices Presents Opportunities

Dublin, April 09, 2021 (GLOBE NEWSWIRE) -- The "Global Continuous Positive Airway Pressure (CPAP) Market: Analysis and Forecast, 2020-2026" report has been added to ResearchAndMarkets.com's offering. The purpose of the study is to enable the reader to gain a holistic view of the global CPAP market by each of the aforementioned segments. The report constitutes an in-depth analysis of the global CPAP market, including a thorough analysis of the different end-users. The study also provides exhaustive information on disease epidemiology, competitive landscape, brand share landscape, market share of the leading players, number of CPAP units shipped, as well as other vital information with respect to the global CPAP market. The report considers CPAP device and Ventilators (offering CPAP mode) manufacturers.Market Segmentation Regional Segmentation Growth Drivers Market Challenges Market Opportunities Key Companies ProfiledAiron Corporation, APEX MEDICAL CORP., Asahi Kasei Corporation, BMC Medical Co., Ltd, Dragerwerk AG & Co. KGaA, Fisher & Paykel Healthcare Limited, General Electric Company, Getinge AB, Koninklijke Philips N.V., Lowenstein Medical GmbH & Co. KG, Medical Depot, Inc. dba drives DeVilbiss Healthcare LLC, Medtronic Plc, ResMed, Inc., Smiths Group plc (Smiths Medical) and VYAIRE MEDICAL, INC.Key Questions Answered in this Report: Key USPs of the ReportFollowing are some of the key contents of the report:1. Epidemiological Landscape 2. Patent Scenario 3. Regulatory Framework 4. Impact of COVID-19This section of the report encompasses the following: In addition, the report provides: Key Topics Covered: 1 Product Definition2 Scope of Report2.1 Scope of Study2.2 Inclusion and Exclusion Criteria of the Report2.2.1 Inclusion Criteria2.2.2 Exclusion Criteria2.3 Key Questions Answered by the Research Study3 Research Methodology3.1 Primary Data Sources3.2 Secondary Data Sources3.3 Data Source Categorization3.4 Market Estimation Model3.5 Data Validation3.6 Selection Criteria for Company Profiles3.7 Forecast, Assumptions, and Limitations4 Impact of COVID-19 on Global Continuous Positive Airway Pressure (CPAP) Market4.1 Industry Scenario: Impact of COVID-19 on the Global CPAP Demand and Supply4.2 Regional Impact4.3 Future Perspective5 Epidemiological Landscape5.1 Obstructive Sleep Apnea (OSA)5.1.1 Global Prevalence and Incidence5.1.1.1 North America Prevalence and Incidence5.1.1.2 EU5 Prevalence and Incidence5.1.1.3 Asia-Pacific Prevalence and Incidence5.1.2 CPAP Devices Demand5.2 Chronic Obstructive Respiratory Diseases (CORD)5.2.1 Global Prevalence and Incidence5.2.1.1 North America Prevalence and Incidence5.2.1.2 EU5 Prevalence and Incidence5.2.1.3 Asia-Pacific Prevalence and Incidence5.2.2 CPAP Devices Demand5.3 Neuromuscular Disorders5.3.1 Global Prevalence and Incidence5.3.1.1 North America Prevalence and Incidence5.3.1.2 EU5 Prevalence and Incidence5.3.1.3 Asia-Pacific Prevalence and Incidence5.3.2 CPAP Devices Demand5.4 COVID-195.4.1 Global Prevalence and Incidence5.4.1.1 North America Prevalence and Incidence5.4.1.2 EU5 Prevalence and Incidence5.4.1.3 Asia-Pacific Prevalence and Incidence5.4.2 CPAP Devices Demand5.5 Other Conditions5.5.1 Asthma Incidence5.5.2 Asthma Prevalence5.5.3 Pneumoconiosis Incidence5.5.4 Pneumoconiosis Prevalence5.5.5 Upper Respiratory Tract Infections Incidence5.5.6 Upper Respiratory Tract Infections Prevalence5.5.7 Lower Respiratory Tract Infections Incidence5.5.8 Lower Respiratory Tract Infections Prevalence5.5.9 CPAP Devices Demand6 Industry Analysis6.1 Industry Structure6.1.1 CPAP Systems Manufacturers6.1.2 Product Distributors / Resellers6.2 Industry Supply Chain Analysis6.3 Associations and Consortiums6.4 Regulatory Framework6.4.1 Regulations in North America6.4.1.1 Food and Drug Administration (FDA)6.4.1.2 Health Canada6.4.2 Regulations in Europe6.4.3 Regulations in Asia-Pacific6.4.3.1 National Medical Products Administration (NMPA)6.4.3.2 Pharmaceutical and Medical Device Agency (PMDA)6.5 Patent Landscape6.5.1 Patent Analysis by Country6.5.2 Patent Analysis by Quarters7 Competitive Landscape7.1 Competitive Landscape7.1.1 Market Share Analysis7.1.2 Growth Share Matrix (2015-2019)7.2 Key Developments and Strategies7.2.1 New Offerings7.2.2 Partnerships and Alliances7.2.3 Regulatory and Legal Activities7.2.4 Mergers and Acquisitions8 Continuous Positive Airway Pressure Market Sizing and Forecast8.1 Assumptions and Limitations8.2 Opportunity Assessment8.2.1 Opportunity Assessment8.3 Global CPAP Market Size and Growth Potential, 2015-20268.4 Current Market Trends Analysis8.5 Market Dynamics8.5.1 Market Drivers8.5.1.1 Rising Number of Startups Driving Innovation8.5.1.2 Increasing Prevalence of Obstructive Sleep Apnea8.5.1.3 Growing Prevalence of Respiratory Diseases among the Geriatric Population8.5.1.4 Growing Prevalence of Chronic Respiratory Diseases across the Globe8.5.2 Market Restraints8.5.2.1 High Upfront Cost of Device8.5.2.2 Side-Effects Associated with Long-Term Usage8.5.3 Impact Analysis8.5.4 Market Opportunities8.5.4.1 Development of Smart CPAP Devices8.5.4.2 Digitization of Device Training Modules to Promote Adoption9 Continuous Positive Airway Pressure Market (by End-User)9.1 Overview9.2 Hospitals and Clinics9.3 Nursing Homes9.4 Elderly Care Centers9.5 Home-Use10 Continuous Positive Airway Pressure (CPAP) Market (by Region)10.1 North America Continuous Positive Airway Pressure (CPAP) Market10.2 EU5 Continuous Positive Airway Pressure (CPAP) Market10.3 Asia-Pacific Continuous Positive Airway Pressure (CPAP) Market10.4 Rest-of-the-World Continuous Positive Airway Pressure (CPAP) Market11 Company Profiles11.1 APEX MEDICAL CORP.11.1.1 Company Overview11.1.2 Role of APEX MEDICAL CORP. in Global Continuous Positive Airway Pressure Market11.1.3 Recent Developments11.1.4 SWOT Analysis11.2 Airon Corporation11.2.1 Company Overview11.2.2 Role of Airon Corporation in Global Continuous Positive Airway Pressure Market11.2.3 Recent Developments11.2.4 SWOT Analysis11.3 Asahi Kasei Corporation11.3.1 Company Overview11.3.2 Role of Asahi Kasei Corporation in Global Continuous Positive Airway Pressure Market11.3.3 Financials11.3.4 SWOT Analysis11.4 BMC Medical Co., Ltd11.4.1 Company Overview11.4.2 Role of BMC Medical Co., Ltd in Global Continuous Positive Airway Pressure Market11.4.3 Recent Developments11.4.4 SWOT Analysis11.5 Dragerwerk AG & Co. KGaA11.5.1 Company Overview11.5.2 Role of Dragerwerk AG & Co. KGaA in Global Continuous Positive Airway Pressure Market11.5.3 Financials11.5.4 SWOT Analysis11.6 Fisher & Paykel Healthcare Limited11.6.1 Company Overview11.6.2 Role of Fisher & Paykel Healthcare Limited in Global Continuous Positive Airway Pressure Market11.6.3 Financials11.6.4 Recent Developments11.6.5 SWOT Analysis11.7 General Electric Company11.7.1 Company Overview11.7.2 Role of General Electric Company in Global Continuous Positive Airway Pressure Market11.7.3 Financials11.7.4 SWOT Analysis11.8 Getinge AB11.8.1 Company Overview11.8.2 Role of Getinge AB in Global Continuous Positive Airway Pressure Market11.8.3 Financials11.8.4 SWOT Analysis11.9 Koninklijke Philips N.V.11.9.1 Company Overview11.9.2 Role of Koninklijke Philips N.V. in Global Continuous Positive Airway Pressure Market11.9.3 Financials11.9.4 Recent Developments11.9.5 SWOT Analysis11.1 Lowenstein Medical GmbH & Co. KG11.10.1 Company Overview11.10.2 Role of Lowenstein Medical GmbH & Co. KG in Global Continuous Positive Airway Pressure Market11.10.3 SWOT Analysis11.11 Medical Depot, Inc. dba drives DeVilbiss Healthcare LLC11.11.1 Company Overview11.11.2 Role of Medical Depot, Inc. in Global Continuous Positive Airway Pressure Market11.11.3 SWOT Analysis11.12 Medtronic Plc11.12.1 Company Overview11.12.2 Role of Medtronic Plc in Global Continuous Positive Airway Pressure Market11.12.3 Financials11.12.4 SWOT Analysis11.13 ResMed Inc.11.13.1 Company Overview11.13.2 Role of ResMed Inc. in Global Continuous Positive Airway Pressure Market11.13.3 Financials11.13.4 Recent Developments11.13.5 SWOT Analysis11.14 Smiths Group plc (Smiths Medical)11.14.1 Company Overview11.14.2 Role of Smiths Group plc in Global Continuous Positive Airway Pressure Market11.14.3 Financials11.14.4 SWOT Analysis11.15 VYAIRE MEDICAL, INC.11.15.1 Company Overview11.15.2 Role of VYAIRE MEDICAL, INC. in Global Continuous Positive Airway Pressure Market11.15.3 SWOT AnalysisFor more information about this report visit

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