Boy Raises $3K for Gene Therapy Trial in Honor of Young Patient

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by Mary Chapman |

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When 11-year-old Connor Ridley heard about another boy named Connor who wants to get into a potentially life-changing clinical trial, he decided to help.

The other boy, Connor Dobbyn, is 13 and was diagnosed in 2019 with Sanfilippo syndrome, a neurodegenerative disease that renders the body unable to break down large sugar molecules, which accumulate to toxic levels in cells, particularly in the brain.

His family has been dogged in their quest to raise funds for a first-ever gene therapy trial specifically for Sanfilippo type C, the kind Dobbyn has. While patients with this type generally live longer than those with types A or B, Sanfilippo overall is sometimes referred to as “Alzheimer’s for children” because of the damage it causes to the nervous system.

The Save Connor campaign is seeking $1 million to ensure completion of two key trial steps: final preclinical work and production of gene therapy medication. The funds would also ensure the study remains on track.

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What Ridley decided to do was win a new Huffy Beach Cruiser through his school’s “Bikes for Books” reading contest this summer, then use the bicycle as a fundraiser. His plan worked: Ridley did win the bike and subsequently raffled it off, raising $3,000 for the clinical study.

“It [is] absolutely remarkable and warms your heart to see someone so young having such empathy for another family and then going to such extraordinary lengths to help,” said Glenn O’Neill, president of the Cure Sanfilippo Foundation, in a press release.

“People like Connor Ridley are the true heroes of our world, the people who inspire others and shape the world in a positive way. We are so grateful for the compassion and dedication of Connor and other people who go above and beyond to help families of children with Sanfilippo syndrome.”

Others have sought to help Dobbyn as well. Earlier this year, a group of boys and girls, nicknamed Connor’s Crew, hosted walks, held school fundraisers, and undertook other efforts to help pay for the study.

Gene therapy could address the underlying cause of Sanfilippo and stave off or prevent neurodegeneration, unlike current therapies that seek to ease symptoms.

What the gene therapy aims to do is deliver a correct copy of the HGSNAT gene, supplanting the defective one. That involves inserting the correct gene into a small circular piece of DNA called a plasmid, which is then delivered by a harmless adeno-associated virus into the brain.

Last May, the foundation granted $380,000 to Phoenix Nest to develop the first gene therapy for children with Sanfilippo type C. According to preclinical findings, the company’s AAV vector — AAV-TT — was able to deliver a functional, human HGSNAT gene into the central nervous system of a mouse model of Sanfilippo syndrome type C. The treatment was also able to correct the animals’ behavior.