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 185 free, full-text research articles on human participants. First 3 results:

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy.
 

Author(s): André Lollert, Clemens Stihl, Andreas M Hötker, Eugen Mengel, Jochem König, Katharina Laudemann, Seyfullah Gökce, Christoph Düber, Gundula Staatz

Journal:

 

The objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri ...

Last Updated: 31 Dec 1969

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Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.
 

Author(s): Hsuen-En Hwang, Ting-Rong Hsu, Yueh-Hui Lee, Hsin-Kai Wang, Hong-Jen Chiou, Dau-Ming Niu

Journal: Medicine (Baltimore). 2017 Nov;96(44):e8415.

 

Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data ...

Last Updated: 31 Dec 1969

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
 

Author(s): Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher

Journal:

 

Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing ...

Last Updated: 31 Dec 1969

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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 19 free, full-text review articles on human participants. First 3 results:

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
 

Author(s): Miriam Martínez, Mar García Romero, Luis García Guereta, Marta Cabrera, Rita M Regojo, Luis Albajara, Maria L Couce, Miguel Saenz de Pipaon

Journal: Medicine (Baltimore). 2017 Dec;96(51):e9186.

 

Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment.

Last Updated: 31 Dec 1969

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The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.
 

Author(s): Benedikt Schoser, Deborah A Bilder, David Dimmock, Digant Gupta, Emma S James, Suyash Prasad

Journal:

 

Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Response to Diaphragmatic Pacing in Subjects With Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 25 Apr 2018

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Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 16 May 2018

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Last Updated: 6 Apr 2018

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