Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Late-onset Pompe patients in US begin receiving new therapy

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:

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

More articles from Health and Medicine:

nachricht New potential cancer treatment using microwaves to target deep tumors
12.10.2016 | University of Texas at Arlington

nachricht Breakthrough in Mapping Nicotine Addiction Could Help Researchers Improve Treatment
04.10.2016 | UT Southwestern Medical Center

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: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Innovative technique for shaping light could solve bandwidth crunch

20.10.2016 | Physics and Astronomy

Finding the lightest superdeformed triaxial atomic nucleus

20.10.2016 | Physics and Astronomy

NASA's MAVEN mission observes ups and downs of water escape from Mars

20.10.2016 | Physics and Astronomy

More VideoLinks >>>