Featured Research

from universities, journals, and other organizations

Enzyme Replacement Therapy Found To Effectively Treat Patients With Fabry Disease

Date:
October 28, 2002
Source:
Cedars-Sinai Medical Center
Summary:
Raul Hernandez was no stranger to sports activity, and was active in Little League by the time he was 10 years old. But one day while running a short race at school, Raul experienced an intense burning sensation in his feet that turned his world upside down. From that day forward, he would experience severe pain in his feet any time he engaged in physical activity or, strangely, when the weather was hot or it rained.

LOS ANGELES, CA (October 24, 2002) - Raul Hernandez was no stranger to sports activity, and was active in Little League by the time he was 10 years old. But one day while running a short race at school, Raul experienced an intense burning sensation in his feet that turned his world upside down. From that day forward, he would experience severe pain in his feet any time he engaged in physical activity or, strangely, when the weather was hot or it rained. The situation worsened when the pain spread to his hands. His doctors, however, were unable to find anything wrong with him, telling his parents that the pain was all in his mind.

Related Articles


Seventeen years later, Raul was officially diagnosed with Fabry disease – a rare genetic disorder that causes severe pain in the hands and feet, eventually destroying vital organs in the body. Yet even after Raul was diagnosed, no therapy was available to treat the disease. It was not until two-and-a-half years ago that Raul learned that a clinical trial at Cedars-Sinai Medical Center was testing a new drug designed to replace the enzyme that he was missing. The next thing he knew, he was on a plane to Los Angeles from his hometown in Salinas, California to take part in the clinical trial. Since then, Raul commutes every two weeks to receive treatment. He says that he is once again exercising without pain and leads as normal life as anyone else.

An update of the clinical trial at Cedars-Sinai Medical Center and at 19 other centers throughout the country and Europe, was presented this month at the annual meeting of the American Society of Human Genetics in Baltimore, Maryland by William Wilcox, M.D., Ph.D., a medical geneticist at Cedars-Sinai. The findings show that patients receiving enzyme replacement therapy for a near-two-year period via infusion with a drug called r-haGAL (FabrazymeTM) continue to benefit from reduced pain and prevention of further organ damage.

"This study essentially confirms the long-term safety and effectiveness of enzyme replacement therapy for patients with Fabry," said Dr. Wilcox.

Named Fabry disease after the dermatologist who first noted the symptoms back in the 19th century, it was only recently discovered that the disease is an inherited disorder caused by the lack of a particular enzyme called a-galactosidase A or a-GAL. The enzyme is needed to break down a fatty substance in cells called globotriaosylceramide or GL-3. But when a-GAL is lacking, GL-3 builds up in blood vessel walls and does increasing damage to organs such as the heart, kidney and brain. By the time that the disease is diagnosed, the organs have often sustained damage, ultimately leading to an early death.

"Raul's bout with the disease is similar to many other patients with Fabry, as even now, the disease is often undiagnosed until adulthood when organs have started being affected," said Dr. Wilcox. "Now we have a drug that replaces the deficient enzyme so that patients can live longer and better."

In the study, Raul was one of 58 patients selected at random to receive r-haGAL or a placebo by infusion every two weeks for a 20-week period. After completing 20 weeks of the study, all 58 patients have been receiving an infusion of r-haGAL every two-weeks for over 18 months. Patients' response to the drug was monitored via kidney and heart function tests. Tissue biopsies were also performed to assess organ function and a specialized questionnaire was used to assess patient pain levels. The investigators found that pain was significantly improved overall, while pathology studies confirmed that GL-3, or the fatty substance in cells, was consistently reduced throughout the study period. Kidney function remained stable throughout treatment during the 18-month period indicating that the disease was not causing further damage.

Although the investigators found that the majority of patients began producing antibodies in response to the drug after a three-month period, this did not impact the continued effectiveness or safety of the drug.

"Interestingly, we found that enzyme replacement therapy continues to unplug blood vessels despite the presence of antibodies," commented Dr. Wilcox.

As one of the first patients to participate in the clinical trial, Raul says the treatment has changed his life. He can exercise and doesn't have to worry about the weather.

Cedars-Sinai Medical Center is one of the largest nonprofit academic medical centers in the Western United States. For the fifth straight two-year period, Cedars-Sinai has been named Southern California's gold standard in health care in an independent survey. Cedars-Sinai is internationally renowned for its diagnostic and treatment capabilities and its broad spectrum of programs and services, as well as breakthrough in biomedical research and superlative medical education. Named one of the 100 "Most Wired" hospitals in health care in 2001, the Medical Center ranks among the top 10 non-university hospitals in the nation for its research activities.


Story Source:

The above story is based on materials provided by Cedars-Sinai Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Cedars-Sinai Medical Center. "Enzyme Replacement Therapy Found To Effectively Treat Patients With Fabry Disease." ScienceDaily. ScienceDaily, 28 October 2002. <www.sciencedaily.com/releases/2002/10/021028072732.htm>.
Cedars-Sinai Medical Center. (2002, October 28). Enzyme Replacement Therapy Found To Effectively Treat Patients With Fabry Disease. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2002/10/021028072732.htm
Cedars-Sinai Medical Center. "Enzyme Replacement Therapy Found To Effectively Treat Patients With Fabry Disease." ScienceDaily. www.sciencedaily.com/releases/2002/10/021028072732.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

AFP (Nov. 23, 2014) The arable district of Kenema in Sierra Leone -- at the centre of the Ebola outbreak in May -- has been under quarantine for three months as the cocoa harvest comes in. Duration: 01:32 Video provided by AFP
Powered by NewsLook.com
WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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