Navigation Links
UF makes gene therapy advance in severe genetic disorder
Date:5/28/2009

GAINESVILLE A dog born with a deadly disease that prevents the body from using stored sugar has survived 20 months and is still healthy after receiving gene therapy at the University of Florida putting scientists a step closer to finding a cure for the disorder in children.

Called glycogen storage disease type 1A, the genetic disease stops the body from being able to correctly store and use sugar between meals. In order to survive, children and adults with this disease must receive precise doses of cornstarch every few hours. The disease is even more dire in dogs, which must be fed sugar every 30 minutes to survive.

"Without treatment, these dogs all die," said David Weinstein, M.D., M.M.Sc., director of the UF Glycogen Storage Disease Program and co-investigator on the study. "People usually survive because they are fed so much as infants. But by 4 to 6 months of age, they will have developmental delays and a big liver. If it is diagnosed at that point, the kids can do fine. If it is not diagnosed, then the kids get exposed to recurrent low sugars, and they will end up with brain damage, seizures or they will die."

UF researcher Cathryn Mah, Ph.D., a member of the Powell Gene Therapy Center and UF Genetics Institute, will present the findings at an American Society of Gene Therapy meeting this weekend in San Diego.

About one in 100,000 children have this severe form of glycogen storage disease. Children receive doses of cornstarch at scheduled intervals throughout the day because it metabolizes more slowly than other carbohydrates. Until this therapy was discovered about 30 years ago, most children born with this disease did not survive past infancy.

Glycogen storage disease type 1A stems from a faulty enzyme that doesn't convert stored sugar, or glycogen, to glucose, the type of sugar the body uses for energy. This prevents the body from getting the energy it needs and causes glycogen to build up in the liver.

The goal of gene therapy is to restore the faulty enzyme so the body uses sugar properly, said Mah, a UF assistant professor of pediatric cellular and molecular therapy and a co-investigator on the study.

The dog, which comes from a line of dogs genetically prone to the disease, received its first dose of gene therapy the day after it was born, Mah said. The dog improved at first, often going as long as two to three hours without needing additional glucose to supplement its diet. But several weeks later the progress stopped.

When the dog was 5 months old, the researchers administered another dose of gene therapy, this time using a different type of AAV. Six weeks after the therapy, the dog was completely weaned off glucose supplements.

"We have never had to use any glucose supplementation since we weaned her off," Mah said. "She just gets fed normal dog food. That is a huge improvement in quality of life."

A few years ago, when Weinstein, Mah and other UF and National Institutes of Health collaborators began discussing the project, the longest a dog with the disease had lived was 28 days. The dog treated at UF is now 20 months old.

"The success is beyond what I would have imagined at this stage," Weinstein said. "To have a dog off treatment for 14 months that is clinically doing great with outstanding lab results is beyond what I even dreamt about."

Researchers hope to eventually establish a clinical trial in humans, but for now would like to test gene therapy in dogs again within the next year, Weinstein said.

"This is very exciting work and holds great promise for treatment of the disease in humans," said Joseph Wolfsdorf, M.B., B.Ch., a pediatric endocrinologist at Children's Hospital Boston and professor of pediatrics at Harvard Medical School who studies glycogen storage disease in children.

Finding better treatments for the glycogen storage disease is crucial because the disorder is still associated with multiple complications, and care remains a challenge. As a result of the lack of expertise in this condition, children and adults also must travel to special centers for care. With more than 300 patients from 18 countries, UF's Glycogen Storage Disease Program is the largest in the world.


'/>"/>

Contact: April Frawley Birdwell
afrawley@ufl.edu
352-273-5817
University of Florida
Source:Eurekalert

Related biology news :

1. DOE makes largest Danforth Campus research award in history
2. New study reveals the protein that makes phosphate chains in yeast
3. Stem cell therapy makes cloudy corneas clear, according to Pitt researchers
4. A little java makes it easier to jive, researcher says
5. New high-throughput screening technique makes probing puzzling proteins possible
6. Scripps scientists find structure of a protein that makes cancer cells resistant to chemotherapy
7. The host makes all the difference
8. The egg makes sure that sperm dont get too old
9. Tobacco makes medicine
10. Liking sweets makes sense for kids
11. Oh baby, interventional radiology makes childbirth safer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/19/2016)... April 20, 2016 The new ... a compact web-based "all-in-one" system solution for all door ... reader or the door interface with integration authorization management ... control systems. The minimal dimensions of the access control ... the building installations offer considerable freedom of design with ...
(Date:4/14/2016)... AVIV, Israel , April 14, 2016 ... Behavioral Authentication and Malware Detection, today announced the appointment ... already assumed the new role. Goldwerger,s leadership ... BioCatch, on the heels of the deployment of its ... addition, BioCatch,s behavioral biometric technology, which discerns unique cognitive ...
(Date:3/31/2016)...  Genomics firm Nabsys has completed a financial  restructuring ... , M.D., who returned to the company in October ... team, including Chief Technology Officer, John Oliver , ... and Vice President of Software and Informatics, Michael ... Dr. Bready served as CEO of Nabsys from 2005-2014 ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... 23, 2016   EpiBiome , a precision microbiome ... in debt financing from Silicon Valley Bank (SVB). The ... to advance its drug development efforts, as well as ... "SVB has been an incredible strategic partner to ... traditional bank would provide," said Dr. Aeron Tynes ...
(Date:6/23/2016)... Apellis Pharmaceuticals, Inc. today announced positive ... its complement C3 inhibitor, APL-2. The trials were ... studies designed to assess the safety, tolerability, pharmacokinetics ... healthy adult volunteers. Forty subjects were ... dose (ranging from 45 to 1,440mg) or repeated ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... at the Pennsylvania Convention Center and will showcase its product’s latest features from ... also be presenting a scientific poster on Disrupting Clinical Trials in The Cloud ...
(Date:6/23/2016)... India , June 23, 2016 ... media market research report to its pharmaceuticals section ... profiles, product details and much more. ... spread across 151 pages, profiling 15 companies and ... available at http://www.reportsnreports.com/reports/601420-global-cell-culture-media-industry-2016-market-research-report.html . ...
Breaking Biology Technology: