Issue 3 » Batten CLN8 Update: Genetic Therapy Dream Team Seeks to Save Kids’ Lives
In the last issue of Wealth | Wisdom | Wellness, we put the spotlight on the urgent quest to find a cure for Batten Disease CLN8, a genetic disorder that affects children by attacking and degenerating their nervous systems.
CLN8 and variants like CLN2 and CLN6 are often misdiagnosed because DNA analysis is required for a proper diagnosis. The disorder is usually fatal before a child reaches adulthood.
And we introduced you to a local family that’s fighting CLN8. Valencia parents Teri and Michael E. Fox are witnessing their 14-year-old son Sebastian, nicknamed Sebi, a bright, active, loving child, rapidly lose his ability to walk and talk.
“Children deteriorate extremely fast with seizures and progressive blindness, loss of motor control and cognitive decline,” Teri said. “In later stages, the children lose all ability to walk, talk, eat and care for themselves. It’s horrific to watch. And we’ve been told that’s what will happen to Sebi eventually.”
Even with proper diagnosis, though, there’s no cure yet. But researchers have discovered that gene replacement therapy has worked in sheep afflicted by Batten Disease. Simply put, treatment replaces a defective gene with a healthy one.
To date, drug companies have not invested in research, development, testing and approval of gene replacement therapy for CLN8 and related disorders. So it’s been up to the private sector to pick up the tab.
And families like the Foxes are stepping up, because they are dedicated to finding treatments that not only may save their own child, but also the lives of other kids suffering the same or similar genetic disorders.
Teri and Michael found out they are not alone when they read a 2016 People magazine profile about Hollywood producer Gordon Gray and his wife Kristen. Their daughters, Gwyneth and Charlotte, were diagnosed with Batten Disease CLN6 at ages 2 and 4, and their doctors said they could do nothing.
“Gordon and Kristen Gray didn’t take no for an answer,” Teri said. “They searched the world and found a lab that had used gene replacement therapy to treat sheep in New Zealand with Batten disease.”
After more than a year of research and development and clinical trials, using gene replacement therapy to treat children with CLN6, began at The Children’s Hospital in Columbus, Ohio.
Inspired by the Grays’ story and the work already being done on CLN6 – even though it is a completely different genetic disorder from CLN8 – the Foxes began exploring how gene replacement therapy might also help Sebi and other children with CLN8.
In January 2017, Teri and Michael created the nonprofit Sebastian Velona Foundation to find a cure for CLN8 (Sebi is son of Teri and her previous husband, Chris Velona). They brought in experienced non-profit managers, and they connected with the Grays’ “dream team” of doctors and scientific advisors to build upon the research already done for CLN6.
And the Foxes staged fundraisers, by year’s end receiving more than $225,000 in private and corporate donations. That was enough to fund the first phase of a long, estimated $3.5 million process of researching and testing CLN8 gene replacement therapy and eventually securing FDA approval. By incremental fundraising, the Foundation seeks to keep the quest for a cure moving forward.
“A harmless virus is used to transfer good CLN8 genes to replace the defective gene,” Michael said. “When the good genes get injected via spinal epidural, the virus does what a virus does and it spreads the good CLN8 genes through the body. The defective gene still stays in the body, but becomes inactive.”
“That’s how simple it is once we obtain FDA approval for the therapy,” Teri said. “And other kids with CLN8 will be included in the clinical trial, along with Sebi. So, it’s a pretty miraculous thing.”
But if ultimately successful with the Batten CLN6 trial, and an eventual CLN8 trial, doctors think this type of gene replacement therapy could also be applied to treat a much wider range of genetic disorders, both common and rare.
“These scientists have come up with a promising therapy,” Michael said. “We have a goal of curing CLN8. We just need financial help to get there. Importantly, Sebastian Velona Foundation donors aren’t just helping kids with CLN8. If successful at treating CLN8, gene replacement therapy could ultimately prove to be a cure for any genetic disorder.
We encourage you and your company to donate to the Sebastian Velona Foundation both now and in the future with recurring donations at CureBattenCLN8.org. Please also contact Teri or Michael to arrange a future fundraising event. Meanwhile, you can send and receive Sebastian’s Healing Hugs on Facebook at HealingHugs4Sebi. Donate now online at www.CureBattenCLN8.org.