University of Minnesota medical breakthrough in treating childhood genetic disorder

Doctors at the University of Minnesota are on the verge of a medical breakthrough in treating a life-threatening childhood brain disorder.

They’ve invented a new form of gene therapy and used powerful magnetic imaging to see the improvements that are helping a lot of parents finally see the light at the end of a dark tunnel.

The disorder is called Hurler syndrome and even with the best treatments, patients typically have very short lives. But what doctors are doing at the university medical school and Magnetic Resonance Research Center could change that.

Makenzie Wynegar’s superpower may simply be survival. The 9-year-old lives with the genetic brain disorder Hurler syndrome, which affects about 1 in 100,000 children.

From birth, Hurler kids live with physical abnormalities and limited brain development. Wynegar has gotten life-extending treatment at the University of Minnesota Medical Center for about eight years. And now her mother is closely watching new research on campus.

"I think it’s providing a lot of hope for parents," said Ann Wynegar. "Once you know there’s light at the end of the tunnel and that your child has a chance at being cured, I think it’s a very amazing thing. Drs. Walter Low and Wei Chen use some of the strongest imaging machines doing clinical research anywhere to confirm the success of a new gene therapy."

The research shows the brains of mice with Hurler make almost no connections until after the treatment.

"Fundamentally there’s a restoration of the normal brain connection in these mutant animals," said Dr. Low, a co-senior author and professor at the U of M Medical School.

Their research is now published in the Nature journal Scientific Reports. The next step would be to put humans into the tube and see if the therapy has the same effect.

"The technology developed in the animal systems easily came over to the human, so no barrier at all," said Dr. Wei Chen, co-senior author and professor at the U of M Medical School and Center for Magnetic Resonance Research.

Current treatment options cost hundreds of thousands of dollars and require frequent hospital visits. The doctors are hoping gene therapy can be a cheaper, one-and-done treatment, possibly even before birth. 

"So that’s the future, I think," said Dr. Low. "To be able to detect these kids even before they’re born and to give them this kind of therapy."

There’s still work to be done as this transitions to human studies.

They need to know why females have a stronger reaction to the therapy and whether it can also apply to the other 40 lysosomal disorders.