Children born with glycogen storage disease type 1A, the genetic disease stops the body from being able to correctly store and use sugar between meals, used to rarely live past infancy. Now, if diagnosed early they can do fine but will need constant treatment which consists of precise dosages of cornstarch every 4 hours.

In dogs, this same disease is usually fatal because they would need to be treated with sugar dosages every 30 minutes.

“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.”

Recently a dog was treated with gene therapy at the University of Florida and has so far survived 20 months and this break through may put scientists one step closer to developing a treatment for children with this disease.

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. (Science Daily)

Again our canine companion led us on the right path to helping humans by helping them. I have written quite a number of stories about treatments developed for dogs, from cancers to prosthetics to arthritis, that will lead advancements to treatments for us. We help them and they help us. Often without these revolutionary treatments, these dogs would die or at least not live as long or well. There’s really no downfall here. In the future we’ll be able to look back and say that it was all because of a dog! Heroes again in their own way. 🙂

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