POMPE DISEASE

Extraordinary Measures directed by Tom Vaughan, starred by Brendan Fraser, Harrison Ford, Keri Russell

I recently watched this movie and after watching this, the facts and scenes in the film flash back in my mind and make me sympathize with those families who have family members with genetic diseases or any untreatable diseases. I am also impressed by those parents’ strong-will and sacrifice for sake of their children. The most astonishing part of this film is the persistence and effort of the father to get something for his children to prolong their lives. The extent of my mind is kept going on…

I just summarize some useful information below from different sources:

“A Portland couple have two children with Pompe disease, a genetic anomaly that kills before a child's tenth birthday. The husband, John, who's in advertising, contacts Robert Stonehill, a researcher who has a theory on an enzyme treatment. He has little money to pursue his research, and a thorny personality that drives away colleagues and funders. John and his wife Aileen raise money for to get Stonehill going, then John takes on the task full time, working with venture capitalists and then a rival team of researchers. Time is passing, Stonehill's antics get in the way, and the profit motive may upend John's hopes.”

“John Crowley became involved in the fund-raising efforts in 1998 after two of his children were diagnosed with Pompe's. He joined the company Novazyme in 1999 which was working on enzyme replacement treatment for Pompe's. Novazyme was sold to Genzyme in 2001 for over US$100 million. The movie Extraordinary Measures is based on his search for a cure.”

Pompe disease (Glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932.

The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.

On April 28, 2006 the US Food and Drug Administration approved a Biologic License Application (BLA) for Myozyme (alglucosidase alfa, rhGAA), the first treatment for patients with Pompe disease. This was based on enzyme replacement therapy using biologically active recombinant human alglucosidase alfa produced in Chinese Hamster Ovary cells. Myozyme falls under the FDA Orphan Drug designation and was approved under a priority review.

The FDA has approved Myozyme for administration by intravenous infusion of the solution. The safety and efficacy of Myozyme were assessed in two separate clinical trials in 39 infantile-onset patients with Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. Myozyme treatment clearly prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment leads to much better outcomes. The treatment is not without side effects which include fever, flushing, skin rash, increased heart rate and even shock; these conditions, however, are usually manageable.