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Pompe disease based on the movie "Extraordinary Measures"© 2010 Laura Bermudez. All rights reserved.

Pompe disease based on the movie "Extraordinary Measures"© 2010 Laura Bermudez. All rights reserved.
by

Laura Bermudez

on 19 May 2010

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Transcript of Pompe disease based on the movie "Extraordinary Measures"© 2010 Laura Bermudez. All rights reserved.

Extraordinary Measures Movie Review Extraordinary Measures" is inspired by the true story of John Crowley, a man who defied conventional wisdom and great odds, and risked his family's future to pursue a cure for his children's life threatening disease. What is Pompe disease? Pompe is a rare disease, inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Early onset (or infantile Pompe disease) Pompe disease is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Late onset (or juvenile/adult) Pompe disease It is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. What do I know about John and Aileen Crowley? They had 3 children, and 2 of them suffer Pompe disease.
John is an American biotechnology executive and entrepreneur. He is best-known as the founder of several biotech companies devoted to curing genetic diseases. After his two youngest children were diagnosed with Pompe Disease, Crowley became the CEO of Oklahoma City-based Novazyme, a biotechnology start-up that was conducting research on a new experimental treatment for the disease. Dr. William Canfield, M.D., PhD He is a glycobiologist, chief scientific officer and founder of an Oklahoma City-based biotechnology company, Novazyme, which was acquired by Genzyme in August 2001 and developed, among other things, an enzyme that can stabilize (but not cure) Pompe disease, based on Canfield's ongoing research since 1998. What other names do people use for Pompe disease? •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
How do people inherit Pompe disease? Pompe disease is a genetic disease, meaning it is caused by a defect in a person’s genes. Genes control many aspects of the body, including production of important enzymes. Pompe disease is inherited when both parents pass on a gene called GAA that has a mutation, or defect, resulting in deficiency or the malfunction of GAA enzyme.. How common is Pompe disease? Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups and nationalities:


Holland: 1 in 40,000 (Adults: 1 in 57,000; Infantile: 1 in 138,000)
Southern China and Taiwan: 1 in 50,000 births
African-Americans: 1 in 14,000 births
Caucasian: 1 in 100,000

Assuming a disease frequency of 1 in 40,000 births, the number of people with Pompe disease worldwide is estimated to be somewhere between 5,000 and 10,000 cases.
Is there any treatment ? Individuals with Pompe disease are best treated by a team of specialists ) knowledgeable about the disease, who can offer supportive and symptomatic care. 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 Pompe disease. What is the prognosis? Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement. What research is being done? The National Institute of Neurological Disorders and Stroke (NINDS), and other Institutes of the National Institutes of Health (NIH), conduct research related to Pompe disease in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Pompe disease Clinical trials It is the process used to evaluate the effectiveness and safety of medications or medical devices by monitoring their effects on large groups of people. Typically, the Food and Drug Administration approves or disapproves new treatments based on clinical trial results. For some patients, clinical research trials represent an avenue for receiving promising new therapies that would not otherwise be available. Patients with difficult to treat or currently "incurable" diseases, may want to pursue participation in clinical research trials if standard therapies are not effective. Organizations Association for Glycogen Storage Disease Muscular Dystrophy Association The Children's Rare Network Make a wish Foundation Acid Maltase Deficiency Association (AMDA) The AMDA formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe's Disease. The Acid Maltase Deficiency Association was established in 1995 to assist in funding research and to promote public awareness of Pompe disease. 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 THANKS FOR YOUR ATTENTION :) Made by:
Angélica Tanaka
Laura Bermudez
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