Navigation Links
Gene therapy could save kids from a lifetime of eating cornstarch
Date:3/12/2008

DURHAM, N.C. A gene therapy treatment that restores a missing liver enzyme in test animals could provide a cure for a rare metabolic disorder in humans, according to Duke University Medical Center researchers.

People born with the disorder, called glycogen storage disease type Ia (GSD-Ia), cant make an enzyme that helps the liver store and release glucose, the sugar that all cells use for energy. Without treatment, their blood sugar levels drop dangerously low, causing seizures and organ damage. Eating raw cornstarch, a slowly digested carbohydrate, and avoiding dietary sugar can help people with GSD-Ia maintain their glucose levels. However, even a special diet does not prevent the eventual liver damage that results from the absent enzyme, and many adults with the disease develop liver and kidney failure or liver cancer. With treatment, most people with GSD-1a have a relatively normal lifespan

The gene therapy developed at Duke would give liver cells the correct genetic code for manufacturing the enzyme. A modified virus transfers the enzyme genes by infecting liver cells. The virus is not linked to any known human disease, and cannot copy itself and spread to other people, said medical geneticist Dwight Koeberl, M.D., Ph.D., lead study author and an associate professor in the Department of Pediatrics.

The research involved creating a virus so focused on targeting liver cells that only a tiny amount is needed for treatment, minimizing potential side effects. Showing that the virus is safe and effective in small doses is an important step in bringing the treatment to clinical trials in humans.

The gene therapy replaced the missing enzyme in the liver to fully normal levels, and protected both mice and dogs with the disease from low blood glucose for up to a year. No one has fully corrected the enzyme that produces glucose in the liver before. We think we can correct every cell in the liver, Koeberl said.

The results appear in the March 11 2008 issue of the journal Molecular Therapy. The research was funded by the Children's Fund for GSD Research, the Association for Glycogen Storage Disease and the Duke Childrens Miracle Network. Dr. Emory and Mrs. Mary Chapman, and Dr. and Mrs. John Kelly, families of a child with GSD-Ia, also provided support.

The researchers tested the technique on mice bred without the genetic code to make the enzyme, as well as young dogs with a naturally-occurring canine form of glycogen storage disease. The original genetic carrier, a Maltese, was identified by a Georgia breeder, and veterinarians at North Carolina State University College of Veterinary Medicine have worked with Duke to maintain a population of dogs with the disease since the mid-1990s.

The success of the new treatment makes the therapy worth testing in long-term animal studies, Koeberl said. This is a step along the way toward developing a curative therapy for our patients, he said. The key is finding funding for a years-long trial. There are not a lot of companies developing treatments for rare diseases, he added.

GSD-Ia occurs in about one of every 100,000 births in the U.S. Duke is treating about 100 patients with the disease.

A long-term study would demonstrate whether gene therapy can prevent complications such as kidney failure and liver cancer, which develop even if people strictly control their diet and blood sugar levels. Other problems associated with the disease include growth restriction, high blood pressure, pancreatitis and persistent hypoglycemia.

There are definite well-documented limitations to the dietary therapy. People cant just follow a diet and count on living full, healthy lives, Koeberl said.

Lengthy trials are also necessary because the corrected genes dont transfer when liver cells divide and copy themselves. However, the slow rate at which liver cells divide means the treatment may be effective for many years, with only a few boosters needed during an individuals lifetime, Koeberl said.


'/>"/>

Contact: Debbe Geiger
Debbe.Geiger@duke.edu
919-660-9461
Duke University Medical Center
Source:Eurekalert

Related medicine news :

1. Vision restoration therapy shown to improve brain activity in brain injured patients
2. HIV therapy in pregnancy-data support WHO recommendations
3. Family-based treatment more effective than supportive psychotherapy in treating bulimia
4. Trial to Test Gene Therapy for Angina in Women
5. One of the Largest Post-WHI Physician Surveys Shows More Education is Needed: Patient Misinformation About Hormone Therapy Remains High
6. Aromatherapy Gift Line Sheds Humorous Light on Modern Therapy
7. Chemotherapy may be culprit for fatigue in breast cancer survivors
8. Atlanta Falcons Physical Therapy Centers Set to Launch This Fall
9. New Drug No Substitute for Standard Blood-Clot Therapy
10. Stem Cell Therapy Disappoints Against Rare Kidney Ailment
11. Nucletron Announces Management Buy-Out to More Effectively Meet the Demands of Its Customers and the Radiation Therapy Community
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/25/2016)... Aliso Viejo, California (PRWEB) , ... June 25, 2016 , ... ... preset to fit their specific project," said Christina Austin - CEO of Pixel Film ... all fully customizable and all within Final Cut Pro X . Simply select ...
(Date:6/25/2016)... ... ... Conventional wisdom preaches the benefits of moderation, whether it’s a matter of ... too high can result in disappointment, perhaps even self-loathing. However, those who set the ... Research from PsychTests.com reveals that behind the tendency to set low expectations ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Pulmonary Hypertension Association ... it will receive two significant new grants to support its work to advance ... 25th anniversary by recognizing patients, medical professionals and scientists for their work in ...
(Date:6/24/2016)... ... ... People across the U.S. are sharpening their pencils and honing their writing skills ... patients and their families pay tribute to a genetic counselor by nominating him or ... Counselors (NSGC) Annual Education Conference (AEC) this September. , In April, Genome magazine ...
(Date:6/24/2016)... ... June 24, 2016 , ... National recruitment firm Slone ... executive with extensive sequencing and genomics experience, as Vice President of North American Capital ... will be responsible for leading the sales team in the commercialization of the HTG ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... Belgium , June 24, 2016 /PRNewswire/ ... announced the appointment of Dr. Edward Futcher ... a Non-Executive Director, effective June 23, 2016.Dr. Futcher ... and Nominations and Governance Committees.  As a non-executive ... provide independent expertise and strategic counsel to VolitionRx ...
(Date:6/23/2016)... 23, 2016 Research and Markets has ... - Forecast to 2022" report to their offering. ... for the patients with kidney failure, it replaces the function ... the patient,s blood and thus the treatment helps to keep ... in balance. Increasing number of ESRD patients ...
(Date:6/23/2016)... Ill. , June 23, 2016  In a startling report ... are failing their residents by lacking a comprehensive, proven plan to ... a definitive ranking of how states are tackling the worst ... to only four states – Kentucky , ... Vermont . Of the 28 failing states, three ...
Breaking Medicine Technology: