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Michelle and Dan Krueger took their four-month-old daughter, Elly, to a pediatrician the day before Thanksgiving in 2023. Michelle and Dan understood the childhood development phases from their experiences with their two older children. Elly seemed a little behind, and her eyes started twitching. That pediatrician visit turned into a trip to the emergency room.
“The emergency-room team did any possible tests you could think of: an MRI, checked her heart and her lungs, did an X-ray and EKG, blood tests, urine tests—the full gamut to try to figure out what was going on,” Michelle says. “Every single test came back normal, and so they didn’t know what it was.”
The next day, one of the hospital’s neurologists called to discuss Elly’s health and see the eye twitches in a video chat. The neurologist recommended an electroencephalogram and “within an hour of her being hooked up, we found out that she was having seizures,” according to Michelle. When medication didn’t reduce Elly’s seizures, the Kruegers turned to genome testing.
On February 8, 2024, less than 3 months after Elly’s pediatrician appointment, testing revealed a mutation in the IRF2BPL (interferon regulatory factor 2 binding protein-like) gene, which plays a key role in a neurodevelopmental disease called NEDAMSS (Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures). Approximately 150 confirmed cases of NEDAMSS are known, but there is no cure, or treatment.
After researching options, the Kruegers established a foundation, Elly’s Team, and contacted Charles River, now working hand in hand to develop and manufacture a potential treatment. “Charles River has been such an amazing partner for us, because talking to them is like talking to someone on our page,” Michelle says. “They moved quickly, they understood that we needed to get things done, they responded to us with the urgency that we felt, and that was something very different than the rest of the researcher world.”
The Kruegers founded Elly’s Team with a singular goal of translating medical research to treatment in record time. “Our hope is to expand research, develop and test several treatments, obtain FDA approval, and ultimately experience medical breakthroughs which will lead to a change in the disease outcome for Elly and the other kids affected by this devastating disease,” Michelle says.
Teams of patients, parents, and experts
The Kruegers are not alone in the search for ultra-rare genetic disease treatments. In 2017, Nasha Fitter and Oliver Roll learned their nine-month-old daughter, Amara, had a FOXG1 gene mutation, which causes a diverse set of physical and cognitive disabilities.
“Amara had started having these mini-seizures called infantile spasms—about 100 seizures a day— and that happened when she was seven months old,” Nasha says. “I started doing research into the condition and trying to understand what the options were.” She soon learned there was no treatment. “There’s really nothing you can do,” Nasha says.
Nasha then heard about gene therapies and their application in other rare diseases. So, Nasha banded together with other parents whose children who were diagnosed with FOXG1 syndrome and cofounded the FOXG1 Research Foundation, where she is CEO. “We are dedicated to finding a cure for this rare disease for every single child in the world,” Nasha says. “Our mission is around three areas: provide patients with the help they need day to day; understand our patients through collecting data in really novel ways; and funding and driving drug development.”
In working to develop new therapeutic options for children with a FOXG1 mutation, Nasha discussed options with experts at Charles River. “Through many years, Charles River has just provided free advice,” she says. Nasha and her colleagues created a virtual biotechnology company within the foundation that has developed and is testing a gene therapy for FOXG1 syndrome that can be leveraged by other patient advocacy groups to drive drug development independently and efficiently.
“When we were ready to move to the next stage, which is toxicology testing and manufacturing the gene therapy, we evaluated different vendors, and ended up going with Charles River for everything,” Nasha says. “Really, the main reason was the amount of care and input that they gave us.” As Nasha adds: “We hope this partnership can be a replicable blueprint for other patient foundations focused on drug development to follow.”
Creating teams to develop therapeutics for rare genetic diseases to help patients speaks to the foundational values of Charles River, according to Matthew Hewitt, PhD, vice president, chief technology officer, manufacturing at Charles River.
“We are always looking to expand these programs where possible to help more therapeutic developers bring potentially life-saving therapies to patient populations with high unmet need,” he says.
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