‘Save Connor’ Video Raising Funds for First-ever Clinical Trial in Sanfilippo Type C

An emotional video about a boy with Sanfilippo syndrome and his parents’ fight to save him has raised about $244,000 toward a first-ever clinical trial that could give the youngster and others a chance at life.

The two-and-a-half-minute “Save Connor” video, which has “gone viral,” raised $100,000 in the first 24 hours of its release on Oct. 16. The hope is it will garner $3 million for a gene therapy study for Sanfilippo syndrome type C, a rare disease subtype with an estimated prevalence of only one case per 100,000 live births.

“I’m speechless,” Connor Dobbyn’s mother, Marisa DiChiacchio, said in a press release. “The shares, donations, offers to help, words of support and encouragement. It just continues to demonstrate, time and time again, how many people Connor has touched the lives of.”

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 such mutations, toxic levels of heparan sulfate build up, causing damage primarily to the nervous system. Patients start experiencing developmental delays after a period of normal development, followed by severe behavioral problems and hyperactivity.

“Simply put, Sanfilippo syndrome is like Alzheimer’s in children,” Glenn O’Neill, president and co-founder of the Cure Sanfilippo Foundation and father to a daughter with the disease, said in a separate press release.

“It is a rapidly degenerative, genetic brain disorder that will steal Connor’s ability to talk, swallow, and walk. He will develop seizures and movement disorders. He will suffer pain and dementia,” O’Neill said.

In the video, which also includes his father, Mike Dobbyn, Connor is seen being active, engaging in activities such as swimming. His mother speaks about the urgent need for effective treatment.

“We can make it stop,” DiChiacchio said in the video. “We can keep Connor right where he is, the beautiful, loving boy that he is. We can save him right now if we’re able to raise money for these clinical trials.”

With no specific therapy approved that targets the cause of the disease, current treatments for Sanfilippo patients have focused on easing symptoms. However, gene therapy has the potential to effectively target the underlying cause of Sanfilippo and delay or prevent neurodegeneration, according to a review study.

In 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, replacing the defective one.

Phoenix Nest’s strategy 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.

“The emotional and uplifting video especially resonates with parents, who see their children in Connor’s smile, kindness, and laugh. They feel the tragedy of money being what will determine whether Connor has a chance at life. They want to do whatever they can to help, so they donate and then share the video far and wide,” O’Neill said.

All donations to “Save Connor” go to the nonprofit Cure Sanfilippo Foundation and are to be used for the clinical trial.