Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Enzyme replacement therapy found to effectively treat patients with Fabry disease

25.10.2002


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.



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.

Kelli Stauning | Cedars-Sinai Medical Center
Further information:
http://www.csmc.edu/

More articles from Health and Medicine:

nachricht Biofilm discovery suggests new way to prevent dangerous infections
23.05.2017 | University of Texas at Austin

nachricht Another reason to exercise: Burning bone fat -- a key to better bone health
19.05.2017 | University of North Carolina Health Care

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Physicists discover mechanism behind granular capillary effect

24.05.2017 | Physics and Astronomy

Measured for the first time: Direction of light waves changed by quantum effect

24.05.2017 | Physics and Astronomy

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>