‘Connor’s Crew’ on Board to Save Their Friend’s Life

They aren’t even teenagers yet, but Connor Dobbyn’s closest friends are engaged in a a most serious effort — to save their’s buddy’s life.

The half-dozen or so 12-year-olds have known Dobbyn since kindergarten, long before he was diagnosed with Sanfilippo syndrome, a neurodegenerative disorder that renders the body unable to break down large sugar molecules that accumulate to toxic levels within patients’ cells, especially brain cells. Because of the damage it causes to the nervous system, the disease is sometimes referred to as “Alzheimer’s for children.”

But this group of boys and girls, dubbed Connor’s Crew, continues to raise funds for an unprecedented clinical trial for Sanfilippo syndrome type C that could give young Connor and others a shot at a longer life. The group recently released a heart-rendering video describing its efforts.

The Save Connor campaign is seeking $1 million to ensure completion of two key trial steps. The funds also would make sure the study stays on track. The steps are completion of final pre-clinical work and production of gene therapy medication.

There’s no approved treatment that targets the disease’s cause, so current therapies have focused on easing symptoms. However, gene therapy could address the underlying Sanfilippo culprit and postpone or prevent neurodegeneration, a review study found.

Last May, the Cure Sanfilippo Foundation, which introduced Connor’s Crew in a recent press release, granted $380,000 to Phoenix Nest for development of the first gene therapy to treat children with Sanfilippo type C, a rare subtype with an estimated incidence of one case per 100,000 live births.

“We like to just be together and be happy,” states a tearful Silvia, a member of Connor’s Crew, in the two-minute video that she hopes will help raise funds. “We’re always happy around him. We don’t act like we act at school. We act different around Connor.”

So far, the group has hosted walks, conducted a steps challenge, held school fundraisers, sold T-shirts and other gear, and even put on a ballet — all to help pay for the clinical study that could save their friend’s life.

“I think the crew is just love,” states Cindy, Silvia’s mother, in the video. “I think it’s just unconditional love all the time. What’s really exciting is that there’s hope for Connor.”

Last October, Dobbyn’s parents released a “Save Connor” video that raised $100,000 in the first 24 hours of its release. At the time, the hope was to garner $3 million for the gene therapy trial.

The gene therapy seeks to 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 that then would be delivered by a harmless adeno-associated virus into the brain.

According to previous clinical findings, the AAV vector Phoenix Next aims to use — 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. In addition, the treatment was able to correct animals’ behavior.

However, clinical trials are very expensive. As Silvia puts it in the video: “It just takes money and for people to be kind.”