Reagan’s Hope: Working to Beat Sanfilippo Syndrome
On March 1, 2012, a baby girl named Reagan came into the world. Though she quickly grew into an energetic toddler eager to play and dance, she was diagnosed with Sanfilippo Syndrome at the age of only two years old. Reagan’s parent’s lives were turned upside down as they listened to the doctor tell them that their precious daughter would soon lose the ability to walk, talk, and even swallow.
Today, at the age of four, Reagan has already stopped gaining verbal skills and is struggling to maintain the words she has managed to learn in the past few years. Without some form of effective treatment, her brain and body will suffer irreversible damage in the next few years. Thankfully for Reagan and many children like her, children’s hospitals around the country are working tirelessly to develop treatments that could help children with Sanfilippo live long, healthy lives.
Sanfilippo Syndrome
Sanfilippo is an insidious disease, one that begins with a single cell defect and grows into an all consuming disease within the central nervous system. This inherited condition prevents the body from properly breaking down long chains of sugar molecules due to an absence of the correct enzymes. When sugar molecules cannot be broken down and released from the body, they become stored inside the body’s cells and accumulate to cause severe problems.
As these sugar molecules build up, they damage the cells in which they are stored. This causes Sanfilippo to arise as a progressive degenerative disease that attacks the central nervous system. It occurs in stages, each more severe than the first.
In the early stages of Sanfilippo, a child will have a large head, bushy eyebrows, and potentially display delayed speech skills. As the stages progress, that same child will eventually become restless with a tendency for inconsolable temper tantrums and hyperactivity. The disease takes its ultimate toll when it robs that child of his ability to walk, talk, and eat on his own. The body gradually shuts down until death occurs.
Current Treatments and Clinical Trials
The Sanfilippo Children’s Foundation and a number of other medical practices are currently devoting themselves to investigating potential treatments and cures for Sanfilippo Syndrome. However, treatment is incredibly tricky, because the disease prevents treatments from crossing the Blood-Brain-Barrier, a natural filter that shields the brain from toxins and pathogens. This means that traditional IV treatment administration cannot be utilized to fight Sanfilippo.
Instead, experts are turning to Gene Therapy (GT) and Enzyme Replacement Therapy (ERT). Gene Therapy introduces genetic material into the child’s cells that are meant to fight Sanfilippo. Over 1,000 clinical trials already exist for the use of GT against diseases like Parkinson’s disease and cancer, but scientists now need to apply it to Sanfilippo. If a gene can be delivered to the impacted cell using a virus as a transportation vector or directly into the brain, it’s possible that the defective gene can be fixed to finally produce the enzyme needed to prevent Sanfilippo.
Gene Therapy is currently underway in clinical trials, including in Reagan’s hometown of Columbus, Ohio at Nationwide Children’s Hospital. If the clinical trials can determine an outcome quickly enough, Gene Therapy may very well save Reagan’s life. Her parents are currently raising money on their GoFundMe page to help raise awareness about Sanfilippo and fund the clinical trials desperately needed to make necessary progress.
In addition to Gene Therapy, Enzyme Replacement Therapy offers children with Sanfilippo a bright ray of hope. As the name suggests, ERT is a medical treatment that provides affected children with the enzyme needed to break down accumulated sugars and remove waste from the body as needed. It’s already been proven as an effective treatment in other rare but terrible diseases like Pompe disease and Hurler syndrome, so ERT is now in clinical trials for use with Sanfilippo.
While Reagan’s family waits for Gene Therapy to pass through clinical trials, they have signed Reagan up to participate in a clinical trial for ERT in Minnesota. It’s a time-consuming and rigorous treatment that requires traveling to Minnesota every two weeks, but Reagan’s parents will do whatever it takes to give her the longest, healthiest life possible as new treatments (or cures) continue through the development process.
