Navigation Links
Experimental Drug Offers Hope for Rare Bone Disease: Study
Date:3/7/2012

By Serena Gordon
HealthDay Reporter

WEDNESDAY, March 7 (HealthDay News) -- A new therapy may be the first to offer hope for children born with a rare disease that affects bone development, sometimes so severely that babies die because they're missing a rib cage to protect their lungs.

The inherited disorder is called hypophosphatasia, and the new medication is asfotase alfa. It works by replacing an enzyme that's missing in those with hypophosphatasia. Enzymes are substances responsible for speeding up certain chemical reactions. In hypophosphatasia, the missing enzyme is necessary for proper bone growth and normal metabolism.

A small study of babies and children younger than 3 who had debilitating or life-threatening hypophosphatasia found that treatment with asfotase alfa strengthened bones and improved lung function. After 48 weeks of treatment, many could start bearing weight on their legs and some infants were even taking their first steps.

"We saw striking improvements in these patients with severe hypophosphatasia who received the enzyme replacement," said the study's lead author, Dr. Michael Whyte, medical-scientific director of the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospitals for Children in St. Louis. Whyte is also a professor at Washington University School of Medicine in St. Louis, which conducted the study jointly with Shriners and other institutions.

Results of the research are published in the March 8 issue of the New England Journal of Medicine.

Severe hypophosphatasia affects about 1 in 100,000 babies born in the United States, according to the National Library of Medicine. It's estimated that more people may have the disease, but in far milder forms. The severity of the disease can range from life-threatening to simply causing dental problems in adults, according to background information in the article.

The enzyme in hypophosphatasia that isn't available in sufficient quantity is called alkaline phosphatase. It's responsible for the mineralization of bones and teeth. Mineralization is the process that causes minerals like calcium and phosphorus to be deposited in developing bones and teeth, according to the National Library of Medicine. Without enough alkaline phosphatase, several other substances can build up and cause damage.

There are no approved medical treatments for hypophosphatasia, according to the study.

The current study involved 11 children. All were given an initial intravenous infusion of asfotase alfa, followed by shots of the medication three times a week.

Parents of one baby removed their child from the trial during the initial intravenous treatment. A second baby died from an unrelated infection after more than seven months of treatment.

The remaining nine children have received at least 18 months of treatment with asfotase alfa.

X-rays taken at the start of the study and at weeks 24 and 48 showed significant improvement in bone formation after treatment. In addition, the babies showed improvement in lung function, physical skills, and in the development of intelligence, according to the study.

The treatment was "very well tolerated," Whyte said. And, he added, there was no evidence that the children were developing resistance to the drug.

Treatment with asfotase alfa needs to be ongoing, and it's not yet clear if there are long-term side effects. Whyte and his colleagues are continuing to study the patients enrolled in this trial. He said that he believes children born with the severe or life-threatening form of the disease should be given this medication, even though it's still considered experimental. The reason, he said, is the severe form of this disease is "invariably lethal, usually soon after birth."

Dr. Spyros Mezitis, an endocrinologist at Lenox Hill Hospital in New York City, said the research is promising and groundbreaking. "They're correcting an inborn error of metabolism and mimicking what the body does," he said. "It would be like making someone with type 1 diabetes start making insulin on their own, rather than just replacing it from the outside. I think this will serve as a model for other types of diseases."

But, he added, the current patients will need to be closely monitored as they grow, and that there is a need for further studies.

The study was funded by Shriners Hospitals and Enobia Pharma, which was acquired last month by Alexion Pharmaceuticals. Whyte was a consultant for Enobia Pharma, according to a Washington University news release.

More information

Read more about hypophosphatasia from the Magic Foundation.

SOURCES: Michael Whyte, M.D., medical-scientific director, the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Mo., and professor of medicine, pediatrics and genetics, Washington University School of Medicine, St. Louis, Mo.; Spyros Mezitis, M.D., endocrinologist, Lenox Hill Hospital, New York, N.Y.; March 8, 2012, New England Journal of Medicine


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Experimental Drug Offers Hope for Cystic Fibrosis Patients
2. Experimental Vaccine Shields Monkeys Against Ebola
3. Experimental targeted therapy shows early promise against medulloblastomas
4. Experimental nonsteroidal treatment of asthma shows promise
5. Experimental obesity drug avoids brain effects that troubled predecessors
6. Experimental treatments for cocaine addiction may prevent relapse
7. Experimental TB Test Called Fast and Accurate
8. Experimental Drug Shows Promise for Bone Marrow Disorder
9. Experimental Leukemia Drug Proves a Slam Dunk
10. Experimental Test May Spot Prostate Cancer Earlier, More Accurately
11. Experimental Drug Aids Kids With Nervous System Tumor
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Experimental Drug Offers Hope for Rare Bone Disease: Study
(Date:2/20/2017)... ... 2017 , ... Nancy Johnston Toll marks her debut in the ... the Bump in the Road ” (published by Xlibris). Inspired from her personal experiences, ... the ups and downs experienced by anyone going through cancer treatment and how one ...
(Date:2/20/2017)... ... 2017 , ... Silverado today is pleased to announce that it has entered ... care community in Alexandria, Virginia. The new community is expected to open its doors ... , The three-story community with underground parking – located on King Street –will ...
(Date:2/20/2017)... Orlando, FL (PRWEB) , ... February 20, 2017 ... ... Director, beth[at]orbitahealth[dot]com, +1 (414) 213-8818 , Orbita, Inc., a leading provider of innovative ... software-as-a-service solution for increasing patient engagement and optimizing care journey management for home ...
(Date:2/20/2017)... , ... February 20, 2017 , ... ... check-in, a cloud-based self-service technology that runs on the Posiflex XT-series of touch ... 1076 during HIMSS17 in Orlando, Florida. The terminal provider Posiflex is ...
(Date:2/20/2017)... ... February 20, 2017 , ... ... announced Biscom Document Router (BDR), the first IoT device from Biscom designed to ... imaging. Biscom will debut BDR at HIMSS17 and will be conducting ...
Breaking Medicine News(10 mins):
(Date:2/20/2017)... Fla. , Feb. 20, 2017   ... helping physicians diagnose and treat patients with cardiovascular ... provide wireless connectivity for ZywiePro, Zywie,s cardiac remote ... AT&T Control Center . AT&T and ... monitoring for those with the disease. The Internet ...
(Date:2/20/2017)... 20, 2017 Seal Shield LLC ( ... for mobile device management and disinfection, the ElectroClave™, to ... Exhibition in Orlando, Fla. from ... devices have become commonplace in today,s healthcare landscape, but ... of concerns, including the disinfection and tracking of these ...
(Date:2/20/2017)... DUBLIN , Feb. 20, 2017 Research ... Blood Refrigerator and Freezer Market Analysis and Trends - Product (RFID ... - Forecast to 2025" report to their offering. ... The Global RFID Blood ... of around 21.3% from 2015 to 2025. This ...
Breaking Medicine Technology: