Featured Research

from universities, journals, and other organizations

Late-onset Pompe patients in US begin receiving new therapy

Date:
June 16, 2010
Source:
University of Florida
Summary:
The first commercially available treatment in the United States for a rare form of muscular dystrophy called late-onset Pompe disease was administered at the University of Florida Health Science Center on June 16. People with Pompe disease lack an enzyme to process sugars and starches that are stored in the body as glycogen. The glycogen accumulates and destroys muscle cells, particularly those of the heart and respiratory muscles.

The first commercially available treatment in the United States for patients with late-onset Pompe disease was administered June 16 at the University of Florida.

Pompe disease is a rare form of muscular dystrophy and has been the focus of a research program at UF for more than 10 years. It is now part of expanded efforts in neuromuscular disease research.

People with Pompe disease cannot produce the enzyme acid alpha-glucosidase, or GAA. Without the enzyme, sugars and starches that are stored in the body as glycogen accumulate and destroy muscle cells, particularly those of the heart and respiratory muscles. Many patients need ventilators to breathe.

The therapy, developed by Genzyme Corp. and marketed under the name Lumizyme, involves intravenous infusions to replace the missing GAA enzyme in patients over 8 years of age.

"We are privileged to participate in the care of patients with Pompe disease and have a dedicated team in both clinical care and research for this form of muscular dystrophy," said Dr. Barry Byrne, the director of the Powell Gene Therapy Center and a member of the UF Genetics Institute. "The use of Lumizyme in the United States is the culmination of many years of work by basic science and clinical researchers around the world. Access to Lumizyme has been long-awaited by the patient community and this marks an important chapter as a specific therapy for this neuromuscular disease."

Although rare, late-onset Pompe disease can occur to patients even in their 60s, who begin showing signs of muscle weakness and respiratory problems, often undiagnosed at an earlier age.

Monique Griffin, 35, of Orlando, was the first patient at UF to receive commercially available Lumizyme -- technically known as alglucosidase alfa.

She was diagnosed with Pompe disease in January 2010, and has been receiving enzyme infusions on a study basis since March. She had formerly been employed as a communications specialist at a casino-resort in Las Vegas before being sidelined by the condition.

She can walk short distances, but largely relies on an electric scooter to move about.

"I noticed some improvement in mobility right after the first few treatments," Griffin said. "This has been a very long process. I had symptoms for 10 years before I finally got a Pompe diagnosis, and I was in constant pain for most of 2009, so I have already felt some benefits of this treatment. I still have flare-ups, but I am not as tired and have had some slight improvements in endurance and mobility. I still only walk very short distances, but I am more stable."

The infusion takes about four hours.

"This is an important day for the Pompe community, especially for those patients with late-onset Pompe disease in the United States who are awaiting treatment for this devastating disease," said John Butler, president of Personalized Genetic Health at Genzyme. "We appreciate the efforts of the University of Florida over the years to support the Pompe community, and their partnership with Genzyme to provide access to therapy for patients as quickly as possible."

During Lumizyme's preapproval period, Genzyme worked with patients and physicians to assure that the most severely affected late-onset patients in the United States could access therapy.

"There has been a long period of review and discussion," said Byrne, a pediatric cardiologist. "Now that the treatment's commercially available, there will certainly be an impact for a larger proportion of patients. Future research of this type will be greatly facilitated by UF's Clinical and Translational Science Award from the National Institutes of Health."


Story Source:

The above story is based on materials provided by University of Florida. Note: Materials may be edited for content and length.


Cite This Page:

University of Florida. "Late-onset Pompe patients in US begin receiving new therapy." ScienceDaily. ScienceDaily, 16 June 2010. <www.sciencedaily.com/releases/2010/06/100616171643.htm>.
University of Florida. (2010, June 16). Late-onset Pompe patients in US begin receiving new therapy. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2010/06/100616171643.htm
University of Florida. "Late-onset Pompe patients in US begin receiving new therapy." ScienceDaily. www.sciencedaily.com/releases/2010/06/100616171643.htm (accessed July 22, 2014).

Share This




More Health & Medicine News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) — New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
Powered by NewsLook.com
$23.6 Billion Awarded To Widow In Smoking Lawsuit

$23.6 Billion Awarded To Widow In Smoking Lawsuit

Newsy (July 20, 2014) — Cynthia Robinson claims R.J. Reynolds Tobacco Company hid the health and addiction risks of its products, leading to the death of her husband in 1996. Video provided by Newsy
Powered by NewsLook.com
Tooth Plaque Provides Insight Into Diets Of Ancient People

Tooth Plaque Provides Insight Into Diets Of Ancient People

Newsy (July 19, 2014) — Research on plaque from ancient teeth shows that our prehistoric ancestor's had a detailed understanding of plants long before developing agriculture. Video provided by Newsy
Powered by NewsLook.com
Contaminated Water Kills 3 Babies in South African Town

Contaminated Water Kills 3 Babies in South African Town

AFP (July 18, 2014) — Contaminated water in South Africa's northwestern town of Bloemhof kills three babies and hospitalises over 500 people. The incident highlights growing fears over water safety in South Africa. Duration: 02:22 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins