Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Late-onset Pompe patients in US begin receiving new therapy

17.06.2010
University of Florida doctors among first in nation to administer newly available therapy for late-onset Pompe disease

The first commercially available treatment in the United States for patients with late-onset Pompe disease was administered today (Wednesday, 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."

John Pastor | EurekAlert!
Further information:
http://www.ufl.edu

Further reports about: Byrne GaA Genzyme Lumizyme Pompe enzyme infusions health services muscular dystrophy

More articles from Health and Medicine:

nachricht Nanoparticles as a Solution against Antibiotic Resistance?
15.12.2017 | Friedrich-Schiller-Universität Jena

nachricht Plasmonic biosensors enable development of new easy-to-use health tests
14.12.2017 | Aalto University

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: First-of-its-kind chemical oscillator offers new level of molecular control

DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.

Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Diamond Lenses and Space Lasers at Photonics West

15.12.2017 | Trade Fair News

A better way to weigh millions of solitary stars

15.12.2017 | Physics and Astronomy

New epidemic management system combats monkeypox outbreak in Nigeria

15.12.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>