Pompe disease

Common Name(s)

Pompe disease, Acid maltase deficiency disease, Glycogen storage disease type 2, Glucosidase acid-1,4-alpha deficiency

Pompe disease, also acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.  Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2.
 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pompe disease" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

Last Updated: 9 Nov 2012

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Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

Last Updated: 30 Apr 2014

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

Last Updated: 12 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pompe disease" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

http://www.amda-pompe.org

Last Updated: 9 Nov 2012

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Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

http://www.agsdus.org

Last Updated: 30 Apr 2014

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

http://www.unitedpompe.com

Last Updated: 12 Dec 2012

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General Support Organizations

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General Resources

Updated 9 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pompe disease" returned 155 free, full-text research articles on human participants. First 3 results:

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
 

Author(s): Na Lin, Jingyu Huang, Sara Violante, Joseph J Orsini, Michele Caggana, Erin E Hughes, Colleen Stevens, Lisa DiAntonio, Hsuan Chieh Liao, Xinying Hong, Farideh Ghomashchi, Arun Babu Kumar, Hui Zhou, Ruth Kornreich, Melissa Wasserstein, Michael H Gelb, Chunli Yu

Journal: Clin. Chem.. 2017 Apr;63(4):842-851.

 

Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset ...

Last Updated: 15 Feb 2017

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Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features.
 

Author(s): C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon

Journal: Folia Neuropathol. 2016 ;54(3):295-302.

 

The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles ...

Last Updated: 20 Oct 2016

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
 

Author(s): Zoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, Tracey A Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

Journal: Neurology. 2016 Jul;87(3):295-8.

 

We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.

Last Updated: 19 Jul 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pompe disease" returned 17 free, full-text review articles on human participants. First 3 results:

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
 

Author(s): Matthias Boentert, Hélène Prigent, Katalin Várdi, Harrison N Jones, Uwe Mellies, Anita K Simonds, Stephan Wenninger, Emilia Barrot Cortés, Marco Confalonieri

Journal:

 

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness ...

Last Updated: 20 Oct 2016

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Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
 

Author(s): Juan Clinton Llerena Junior, Osvaldo Jm Nascimento, Acary Souza B Oliveira, Mario Emilio T Dourado Junior, Carlo D Marrone, Heloise Helena Siqueira, Cláudia F R Sobreira, Elza Dias-Tosta, Lineu Cesar Werneck

Journal: Arq Neuropsiquiatr. 2016 Feb;74(2):166-76.

 

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant ...

Last Updated: 17 Mar 2016

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Pompe disease: literature review and case series.
 

Author(s): Majed Dasouki, Omar Jawdat, Osama Almadhoun, Mamatha Pasnoor, April L McVey, Ahmad Abuzinadah, Laura Herbelin, Richard J Barohn, Mazen M Dimachkie

Journal: Neurol Clin. 2014 Aug;32(3):751-76, ix.

 

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 ...

Last Updated: 19 Jul 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Long Term Follow up Study in Late-onset Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 3 Dec 2013

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A Pilot Study of Pyridostigmine in Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 25 Oct 2016

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Muscle Response to Enzyme Replacement Therapy in Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 21 Mar 2015

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