Treatment discovered for deadly childhood disease

Dec 06, 2006

Researchers have discovered that a treatment involving enzyme replacement therapy dramatically reduces the risk of death in children with Pompe disease, a rare genetic disorder in which most children die before their first birthday. The disorder causes profound muscle weakness and heart and breathing problems and affects as many as one in 40,000 births. The study is published in the online edition of Neurology.

"This form of treatment has changed the natural history of this otherwise lethal disease," said study author Priya Sunil Kishnani, MD, with Duke University in Durham, North Carolina.

The year long study involved 18 children under the age of six months with rapidly progressing Pompe disease. Pompe disease is caused by a deficiency in the enzyme acid a-glucosidase (GAA), which is needed to break down glycogen, a complex sugar molecule which releases glucose.

The study found all 18 children who started to receive the enzyme replacement, recombinant human GAA (rhGAA), before they were six months old survived to at least 18 months of age. Fifteen of the 18 children also did not need a ventilator. The study showed that starting rhGAA before the age of six months reduced the risk of death in children by 99 percent, reduced the risk of death or invasive breathing assistance by 92 percent, and reduced the risk of death or any type of ventilation by 88 percent, compared to past patients without this treatment.

"This form of enzyme replacement therapy markedly extended survival and improved respiratory performance in these children, with a majority of them showing normal growth and substantial gains in motor development," said Kishnani. "rhGAA is safe and the only effective treatment for Pompe disease; it is life saving."

Kishnani said the young age at which the children began treatment may have contributed to their improved response compared to previous trials with rhGAA, where patients were older.

"This study demonstrates that starting enzyme replacement therapy early, which could be facilitated by newborn screening, shows great promise to reduce the mortality and disability of babies with this devastating disorder," said Kishnani.

The most common side effects of the rhGAA treatment included skin reactions such as rash and hives, fever, and changes in heart rate. The study was supported by the Genzyme Corporation, maker of rhGAA.

Source: American Academy of Neurology

Explore further: Scientists discover new clues to how weight loss is regulated

add to favorites email to friend print save as pdf

Related Stories

MasterCard, Zwipe announce fingerprint-sensor card

12 hours ago

On Friday, MasterCard and Oslo, Norway-based Zwipe announced the launch of a contactless payment card featuring an integrated fingerprint sensor. Say goodbye to PINs. This card, they said, is the world's ...

Plastic nanoparticles also harm freshwater organisms

13 hours ago

Organisms can be negatively affected by plastic nanoparticles, not just in the seas and oceans but in freshwater bodies too. These particles slow the growth of algae, cause deformities in water fleas and impede communication ...

Atomic trigger shatters mystery of how glass deforms

13 hours ago

Throw a rock through a window made of silica glass, and the brittle, insulating oxide pane shatters. But whack a golf ball with a club made of metallic glass—a resilient conductor that looks like metal—and the glass not ...

US company sells out of Ebola toys

22 hours ago

They might look tasteless, but satisfied customers dub them cute and adorable. Ebola-themed toys have proved such a hit that one US-based company has sold out.

Recommended for you

Team finds key signaling pathway in cause of preeclampsia

18 hours ago

A team of researchers led by a Wayne State University School of Medicine associate professor of obstetrics and gynecology has published findings that provide novel insight into the cause of preeclampsia, the leading cause ...

Rapid test to diagnose severe sepsis

22 hours ago

A new test, developed by University of British Columbia researchers, could help physicians predict within an hour if a patient will develop severe sepsis so they can begin treatment immediately.

User comments : 0