Kristen and Gordon Gray weren’t willing to take no for an answer.
When their 5-year-old daughter, Charlotte, was diagnosed with a rare form of Batten disease in 2015, the doctors told them there was nothing they could do. There was no treatment available for Batten disease, a fatal, neurodegenerative condition that leads to blindness, seizures, cognitive problems, and limited mobility. They could manage symptoms, the doctors said, but the disease wasn’t going to stop its course through Charlotte’s brain and body.
“We didn’t want to accept that,” Kristen Gray told Batten Disease News. That was doubly true when they found that their other daughter, 2-year-old Gwyneth, had the same disease, though she wasn’t showing symptoms yet.
To fight back against the illness, the Grays called on Batten disease experts across the country, and started a foundation to raise the money needed to build, from nearly scratch, a treatment that might save their daughters.
One year later, in March 2016, a gene therapy for CLN6, the Gray girls’ form of Batten disease, was ready to head into a clinical trial (NCT02725580) at Nationwide Children’s Hospital in Ohio. The trial would test if the gene therapy was safe, and if it worked. For Charlotte, who was the first patient enrolled, it also was the best chance to halt or slow the progress of the disease.
On average, it takes about six to seven years for a new drug to go from the lab bench, through the approval process, and to the bedside. But in fast-moving, fatal conditions like Batten, patients don’t have that long to wait. Clinical trials, which test drugs before they’re approved for use, are often the first time patients can access a therapy. They are, by nature, experimental — there’s no guarantee the treatments work, and there’s no guarantee they won’t have unforeseen, potentially dangerous side effects. But for many rare disease patients, signing up for a trial might be their best hope of having any sort of treatment at all.
Taking a chance for hope
Giving her child a still-experimental, unproven medication was scary, Kristen Gray said. “But it was the only thing that gave us hope of life for our children. We knew that if we didn’t do something, our children wouldn’t live.”
Charlotte spent the night before she received the gene therapy in the hospital. The next morning, she was rolled into the surgical center, where the gene therapy — thousands of viruses, engineered to deliver a working copy of the CLN6 gene to the cells throughout her body — was injected into her spine. About three hours later, she was brought out to her parents.
“Everything had gone perfectly,” Gray said. “She was up and laughing and watching her shows within five hours,” Gray said. “It couldn’t have gone better.”
They spent the next 30 days in Columbus so the doctors could continue to monitor her labs, and after that, they went back home to Los Angeles. Every three months, they returned to Nationwide for follow-up appointments. “We consider Columbus our second home,” Gray said. “We have nothing but great things to say about our experience. The girls look forward to going. They don’t cry at the hospital, and they’re excited to see the doctors.”
Twelve children, including Gwyneth and Charlotte, will receive the CLN6 gene therapy during the ongoing clinical trial. At Weill Cornell Medicine in New York, a clinical trial (NCT01414985) of a gene therapy for the CLN2 form of the disease is treating eight patients; a previous trial of an earlier iteration of the CLN2 therapy included 10 patients (NCT00151216).
But for patients who have forms of Batten without any experimental treatments at that stage, options are limited.
Mila Makovec, Batten patient and the namesake of Mila’s Miracle Foundation, recently received an unnamed experimental therapy in Boston under compassionate use, a U.S. Food and Drug Administration (FDA) designation that allows patients to receive an experimental therapy outside the bounds of a clinical trial in cases where no other options are available.
Some doctors, said Danielle Kerkovich, PhD, principal scientist at the Beyond Batten Disease Foundation, are willing to try medications that are approved by the FDA for other diseases with their patients, in the hope they will have an effect.
“Through the rumor mill, we hear that some families come into contact with physicians who will try anything,” Kerkovich told Batten Disease News. “Others won’t give patients anything that’s not specifically clinically approved for Batten. It comes down to their professional personalities.”
Even if a clinical trial for a patient’s type of Batten disease exists, that patient may not be eligible to participate. Seeing patients turned away from the trial was particularly challenging, Kristen Gray said.
The trial introduced their family to a community of others battling CLN6. “We’ve seen a lot of families, and had Skype calls with families all over the world, in Italy, and Spain,” Gray said. “It’s a blessing and a curse: It’s a bit of a silver lining on this [terrible] experience. But the curse is when some don’t qualify for the trial. For me, as a parent, that’s devastating.”
Both her girls are doing well, Gray said. “Gwen is doing great, she’s four and a half, and she’s at an age when Charlotte was deteriorating quite rapidly,” she said. “Though every child is different, and I don’t want to jinx it.”
Charlotte is stable, Gray said. Based on her observations as a parent, she said, Charlotte hasn’t regained a significant amount of mobility or speech. “But I believe in neuroplasticity, and if the treatment has stabilized things, there’s an opportunity to regrow those things in the brain.”
For the Grays, the trial is near the end. It’s been nearly two years since the initial treatment, and soon, they’ll make their last trip to the hospital in Columbus. “We’re coming up on our final appointment,” Gray said. “The last one is the first week in April. Then we’ll be done.”
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