Pompe Disease Research

WHAT IS POMPE DISEASE??

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

WHAT IS IT ALSO CALLED??

• acid maltase deficiency
• acid maltase deficiency disease
• alpha-1,4-glucosidase deficiency
• AMD
• deficiency of alpha-glucosidase
• GAA deficiency
• glycogenosis Type II
• glycogen storage disease type II
• GSD2
• GSD II
• Pompe's disease

WHO IS AFFECTED!!!!

Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.

CLASSIC FORM OF POMPE DISEASE!!!

The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

NON CLASSIC FORM OF POMPE DISEASE!!!

The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

LAST ONSET TYPE OF POMPE'S DISEASE!!!

The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

WHAT GENE CAUSES POMPE'S DISEASE???

Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease. LOCATED ON THE 17TH CHROMOSOME!

                                               

TREATMENT!!!!

Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care.  The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme.  As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation.  A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of infants and children with Pompe disease.  Another algluosidase alfa drug, Lumizyme©, has been approved for late-onset (non-infantile) Pompe disease.

CURRENT RESEARCH!!!

The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country.  Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health.  Much of Pompe-related research focuses on finding better ways to prevent, treat, and ultimately cure this disorder.

SUPPORT GROUPS!!!
The International Pompe Association (IPA) is a federation of Pompe disease patient's groups world-wide. It seeks to coordinate activities and share experience and knowledge between different groups. 

INTERESTING FACT!!!!
Extraordinary Measures

2010

Brendan Fraser and Harrison Ford

A drama centered on the efforts of John and Aileen Crowley to find a researcher who might have a cure for their two children's rare genetic disorder.

SOURCES!!!!

http://www.amda-pompe.org

http://ghr.nlm.nih.gov/condition/pompe-disease

http://www.celebritydiagnosis.com/2010/01/rare-disease-gets-the-hollywood-treatment/

http://www.thedailybeast.com/articles/2012/05/03/bucket-list-baby-avery-canahuati-facts-about-spinal-muscular-atrophy.html

http://www.precisionnutrition.com/all-about-infant-nutrition

http://www.livingwithcerebralpalsy.com/hypotonia-cerebral.php

http://ghr.nlm.nih.gov/gene/GAA

http://www.ninds.nih.gov/disorders/pompe/pompe.htm

http://www.medindia.net/healthnews/pompe-disease-news.asp

http://byrnelab.med.ufl.edu/2012/08/29/the-sun-will-come-out/

http://www.worldpompe.org

http://www.imdb.com/title/tt1244659/

http://www.livestrong.com/article/227107-baby-leg-development/