Minnesota hospital pioneers gene therapy to treat rare brain disease in boys

A Minnesota hospital is now leading the way to treat a devastating brain disease found in children.

The disease is a rare, genetic neurodegenerative condition known as Adrenoleukodystrophy, or ALD, and it primarily affects young boys.

According to doctors at M Health Fairview Masonic Children’s Hospital, one in 20,000 boys are born with ALD each year and 40 percent of cases impact a boy’s brain. As the disease progresses, it can impact neurological function, including a child’s ability to speak, walk, see and hear.

“If left untreated, what we’d expect would happen is this lesion would continue to expand over time and the patients would lose more and more function and eventually be debilitated, vegetative and die,” Paul Orchard, a pediatric blood and marrow transplant doctor at M Health Fairview Masonic Children’s Hospital, said.

Orchard and a team of physicians and researchers helped pioneer a new gene therapy to treat cerebral ALD. The clinical trials began in 2014 and the gene therapy has recently been approved by the U.S. Food and Drug Administration.

Sixty-seven boys from all over the world were a part of the clinical trial over the last eight years.

One of those boys was Landen Veneklase, a 12-year-old from Michigan. Veneklase has a family history of ALD and because of that, his parents had him tested for the disease as a baby. When his brain started showing signs of deterioration, Veneklase was able to join the clinical trial here in Minnesota, testing this gene therapy.

Veneklase began the trial in September 2017, had a bone marrow transplant in November and was home by Christmas Eve that year.

Here’s how the treatment works: Doctors remove some of the patient’s defective blood stem cells. They then create genetic copies of the cells that have been corrected and put them back into the body to regenerate and eventually replace other defective cells.

“This is something that five, six, seven, eight years ago if this would have happened, there were no options for these boys, so having this as an option now, having Landen sitting next to us is just a testament to all the hard work these doctors have done, Minnesota has done to really give families like us and these boys a chance that they need to live long healthy lives,” Scot Veneklase, Landen’s dad said.

Prior to this treatment, a bone marrow transplant was the only option to stop the progression of the disease. Transplantation is extremely risky, especially when a patient does not have a donor match. That was the case for Veneklase.

“To be able to say, hey you don’t need a match. We can genetically modify your own cells, put the corrected gene back into your body, I mean I think that says it all right there,” Scot Veneklase said.

Five years after receiving the gene therapy treatment, and Veneklase is doing well. His family said he is healthy, thriving and expected to live a full life.

“The idea with these types of therapies is to give these boys the best chance to have long, happy, prosperous, full lives,” Orchard said, “I mean, that’s really what we’re here for is to help increase the opportunity for them to do that and to minimize the effects of the disease on the boys and the families.”

Now that the treatment has received FDA approval, M Health Fairview Masonic Children’s Hospital will be one of four in the world able to perform this therapy.

Minnesota is a state that screens newborns for ALD, but many states do not. The Veneklase family is hoping to spread awareness to get every state on board with ALD prescreening. They say, if they hadn’t caught their son’s disease early, he likely wouldn’t have survived.