Cade Jobsis, 4, scheduled to receive novel gene therapy next month

Phase 3 trial underway in Texas to treat SPG50

Four-year-old Cade Jobsis smiles in his home. (Photo courtesy of Emma Jobsis)

By Ellie Ruel

Juneau Independent

Following a month-long community fundraising effort last year to cover $1.15 million in hospital and regulatory fees, 4-year-old Cade Jobsis was selected for a phase 3 clinical trial underway in Dallas.

“When we had heard that it was getting up and running, they were getting through the final phases, we just wanted to be available and give them every opportunity to say, ‘You know, we would love for Cade to be selected,’” said his mother, Emma Jobsis.

Cade was diagnosed with hereditary spastic paraplegia, SPG50, two years ago. It’s a rare neurodegenerative disorder that can lead to loss of cognitive and motor function, and eventually more serious complications like epilepsy. Since the disease is rare, Jobsis has said research and funding can be hard to come by.

The therapy, Melpida, was originally pursued by Terry Pirovolakis, whose son Michael was diagnosed with SPG50 at 15 months old. It’s meant to help express a functional copy of a gene. The third round of trials focuses on efficacy, and will follow Cade for five years post-treatment. It’s also the final round before applying for clinical approval from the Food and Drug Administration.

Jobsis brought Cade down to Texas for the trials about a month ago, returning to Juneau to spend time with family after a delay and returning to sign official consent forms in early March. Since then, they’ve been doing a lot of medical prep work.

“We've been doing the panels to make sure that he's healthy and eligible,” Jobsis said. “We've done blood tests, where they're looking at everything, COVID tests. We did an EKG and echocardiogram, and an EEG.”

While Cade is currently scheduled to receive the treatment on April 1, shortly before his fifth birthday, it’s still a waiting game for the family.

“When we were signing the documents, I thought that this weight would be lifted, like, ‘We're here, we're doing it,’ and it hasn't happened yet,” she said. “I think because we've had so many delays, and so many battles, so many hurdles, that I feel like my nervous system is just ready for the ground to be pulled out from under us again. And I think I will feel that relief once he is out of anesthesia on the treatment day. Once he's woken up from anesthesia and he has received the gene therapy, I think that weight is going to be lifted.”

To prevent Cade from getting sick, they’ve stayed somewhat isolated within the medical district. Jobsis said they've been coping by FaceTiming family, trying new foods and getting outside to enjoy some clearer weather.

“He likes to go outside and kick the soccer ball around. It has been a fun, new thing that we've been doing, because in Juneau we use the field house a lot, but it's hard to find outdoor space that has a forgiving ground,” she said.

Now, Jobsis is trying to figure out how to continue sharing their story online through Cure for Cade.

“There's so many people that are invested in this story,” Jobsis said. “I joked with my husband the other day that I feel like so many people have donated and especially that I feel like people have paid for a subscription to our life, almost. I want so badly to give everybody the rest of the story, to know that what our town did, what they sacrificed and contributed, was so powerful. And I'm still trying to figure out how to keep telling that story, because I just want our town to know how important they are, because there's a lot of places that you can live that would not show up the way that Juneau did.”

• Contact Ellie Ruel at ellie.ruel@juneauindependent.com.