Gene therapies for children with HSP

High hopes for success and widespread application

4 year-old boy undergoes gene therapy for SPG50

After his parents desperately raised $3 million over three years trying to find a cure for their son’s rare genetic disease, Michael Pirovolakis is one step closer to possible recovery.

4 yr old Michael with mother Georgia

Michael, 4, is the only child in Canada diagnosed with spastic paraplegia 50 (SPG50), a slowly progressing neurodegenerative disorder that generally presents with global developmental delay resulting in cognitive impairment and eventual paralysis. 

This past March, doctors at SickKids Hospital in Toronto injected a normal version of the gene he’s missing into Michael’s spinal fluid to be delivered to his brain. The one-dose therapy is part of a groundbreaking clinical trial where Michael is the only participant. 

And already, Georgia and Terry Pirovolakis, Michael’s parents, say they are seeing some signs of hope.

“You know, we’re cautiously optimistic, let’s call it that, we are seeing some improvements,” said Georgia.

Once the therapy had been successfully tested in animal models in the lab, it was ready to be given to Michael. “In gene therapy, that really is the strategy,” said Dr. Jim Dowling, a staff physician in the division of neurology and senior scientist in the Genetics & Genome Biology program at SickKids, who led Michael’s clinical trial and was the doctor who first diagnosed him.

The expectation is the treatment will stop the progression of the disease and perhaps even reverse some degeneration that has already set in, he explained, adding that improvements in Michael’s cognitive and mobility abilities should become apparent in the next several months.

And, further to helping Michael, the therapy developed to treat him has the potential to help thousands of other children with rare conditions. Doctors involved in the trial said they hope the lessons learned here could be developed to help in those cases as well.

Read more… 

SOURCE: CBC News, Aug 15, 2022

Toronto boy whose parents raised $3M to treat his rare genetic disorder starts clinical trial

Ioanna Roumeliotis, Perlita Stroh


2 families’ quest for a cure for children with SPG4

Two families in the USA who each have a child with SPG4 got together and formed the CURE SPG4 Foundation to fund research to find a cure.

They report progress on their website as of January 2022:

  • Two AAV9 vectors for SPG4 have been created by the Sena-Esteves Laboratory at UMass Medical School. An AAV9 vector is the viral enclosure designed to carry a healthy copy of the gene into the body.
  • Both vectors are currently being tested on SPG4 animal models by the Baas Laboratory at Drexel University College of Medicine. Safety and effectiveness are being assessed in mice with SPG4 (see video below).
  • Initial data is expected by year end 2022.
Peter Baas presenting at SPF Conference July 2022

A natural history study of early-onset SPG4 is being conducted by Boston Children’s Hospital. It is hoped that this study provides data that will be highly important to clinical success as relatively little is known about this rare, early-onset form of HSP.

You can help if you have SPG4 and symptoms before 18

They are interested in hearing from families all over the world who have someone with a confirmed genetic diagnosis of SPG4 with symptom onset before age 18, even if they are now adults. If you can help, contact Catherine Jordan at Boston Children’s Hospital by email at: [email protected]​. Participation is completely free, with meetings conducted over Zoom.

Read more… 

SOURCE:  CURE SPG4 Foundation, August 2022

4 comments

  1. I’ve been diagnosed as having SPG4 – fortunately or unfortunately I was diagnosed as an adult and ‘ only ‘ simple. At the moment only my leg muscles are affected.
    I’ve tried oral Baclofen and found it of no use. I now have an internal pump, a lot lower dosage of Baclofen and find it ‘ good ‘. The pump is easily refilled about three times a year.

    1. Editor’s note: As you read in the article, it is a very costly process to conduct this therapy. It is not yet known how effective the treatment is. The aim is to establish an effective treatment and then work on making it available to others. We will attempt to contact the medical team and ask what they suggest for you.

    2. I have two children with SPG84 early onset HSP with progressive lower limb weakness and spasticity affecting gait and movement. How can I get involved in research? Please inform me if anyone has ideas.

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