‘Save Connor’ Campaign Ramps Up Ahead of Deadlines

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by Mary Chapman |

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Impassioned videos, including a new one about a 12-year-old who has Sanfilippo syndrome and his parents’ battle to save him, have raised more than $400,000 toward an unprecedented clinical study that could give the boy a chance at survival.

The hope is that the videos will attract $3 million for a gene therapy trial for Sanfilippo syndrome type C, a rare disease subtype with an estimated prevalence of only one case per 100,000 live births.

The fundraising campaign had slowed during the holidays, but Connor Dobbyn’s parents, Marisa DiChiacchio and Mike Dobbyn, are recommitting themselves to a full-on campaign. The two recently released a new video called “First Viewing” of them emotionally watching the first video for the first time.

The original video “went viral” in the first 24 hours of its Oct. 16 release, and has resulted in financial support from more than 5,700 individuals to date. The new video has been viewed by more than 60,000 people, and since its release, has been shared more than 700 times, adding $20,000 to the campaign.

“We must. We are a very long way from the total dollars needed to fund this clinical trial to hopefully save Connor and other kids with Sanfilippo Type C,” said DiChiacchio in a Cure Sanfilippo Foundation press release.

By June, Connor’s parents hope to have $1 million for final preclinical measures and preliminary steps toward production of the gene therapy they hope will save Connor’s life.

“Real progress can be made here, but we are short by about $600,000,” DiChiacchio said. “Our near-term goal is to reach $1 million at SaveConnor.com by the end of June, which also is Connor’s 13th birthday.”

Sanfilippo syndrome, also known as mucopolysaccharidosis type III, renders the body unable to break down large sugar molecules called glycosaminoglycans. These accumulate to toxic levels inside the cells of those with the condition, particularly cells in the brain.

Type C is diagnosed when mutations are found in the HGSNAT gene, which provides instructions for making an enzyme necessary for the degradation of a large sugar molecule called heparan sulfate.

In children with these mutations, toxic levels of heparan sulfate accumulate, causing damage mostly to the nervous system. Patients start experiencing developmental delays after a period of normal development, followed by severe behavioral problems and hyperactivity.

With no specific therapy approved that targets the disease’s root cause, current treatments for Sanfilippo patients have focused on symptom management. However, gene therapy may be able to effectively target the underlying cause of Sanfilippo and delay or prevent neurodegeneration, according to a review study.

Last May, the foundation granted $380,000 to the biotechnology company Phoenix Nest to support the development of the first gene therapy to treat children with Sanfilippo type C. The therapy seeks to deliver a correct copy of the HGSNAT gene, supplanting the defective one.

Phoenix Nest’s plan to do that involves inserting the correct gene into a plasmid — a small circular piece of DNA — that then would be delivered to a specific region of the brain  by a harmless adeno-associated virus (AAV).

Previous preclinical findings have shown the AAV vector Phoenix Nest plans to use, called AAV-TT, could deliver a functional, human HGSNAT gene into the central nervous system (brain and spinal cord) of a mouse model of Sanfilippo syndrome type C. The therapy also was able to correct animals’ behavior.

Contributions to “Save Connor” go to the foundation and will be used for the clinical trial.