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:6/22/2016)... , June 22, 2016  The American College of Medical ... Show Executive Magazine as one of the fastest-growing trade ... 25-27 at the Bellagio in Las Vegas ... highest percentage of growth in each of the following categories: ... companies and number of attendees. The 2015 ACMG Annual Meeting ...
(Date:6/21/2016)... June 21, 2016 NuData Security announced today ... role of principal product architect and that ... of customer development. Both will report directly to ... The moves reflect NuData,s strategic growth in its ... high customer demand and customer focus values. ...
(Date:6/15/2016)... , June 15, 2016 ... report titled "Gesture Recognition Market by Application Market - Global Industry ... - 2024". According to the report, the  global gesture ... in 2015 and is estimated to grow at ... billion by 2024.  Increasing application of ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... ... launch of the Supplyframe Design Lab . Located in Pasadena, Calif., the ... future of how hardware projects are designed, built and brought to market. , ...
(Date:6/23/2016)... BEACH, Calif. , June 23, 2016  Blueprint ... new biological discoveries to the medical community, has closed ... co-founder Matthew Nunez . "We have ... us with the capital we need to meet our ... will essentially provide us the runway to complete validation ...
(Date:6/23/2016)... , ... June 23, 2016 , ... ... quality, regulatory and technical consulting, provides a free webinar on Performing ... July 13, 2016 at 12pm CT at no charge. , Incomplete investigations are ...
(Date:6/22/2016)... SAN DIEGO , June 22, 2016 /PRNewswire/ ... partnership that will allow them to produce up ... (HiPSC) from one lot within one week. These ... their time laboriously preparing cells and spend more ... made possible through a proprietary, high-volume manufacturing process ...
Breaking Biology Technology: