Around one in every 10,000 girls in the U.S. are diagnosed with Rett syndrome each year. Now, medication developed with help from UCSF ushers in a new era of treatment for them – and for the smaller number of boys who are diagnosed with the condition.
UCSF Benioff Children’s Hospitals pediatric neurologist Dr. Jennifer Martelle Tu, director of Katie’s Clinic for Rett Syndrome, joined KCBS Radio’s Alice Wertz on “As Prescribed” to discuss Rett syndrome and the new treatment.
“Rett Syndrome is a genetic disorder,” she explained. “It affects a specific protein that’s throughout the body, but primarily in the brain. And this protein is really important for maintaining neuronal function, very important immature nerves, to help facilitate the synapses or connections between nerves.”
Most babies born with Rett syndrome – which is caused by MECP2 protein mutation on the X chromosome – show signs of developmental regression when they are 6 to 12 months old. Due to the mutation, their nerves can’t function like they are supposed to. Therefore, the condition is considered a neurodevelopmental disorder, though it has affects throughout the body, Tu said.
“After that initial regression phase, these children can then go on to learn additional skills, though they will always have significant deficits, primarily in their communication skills and in their fine motor skills,” she added.
In March, the U.S. Food and Drug Administration approved Daybue (trofinetide), the first treatment for Rett syndrome. This medication, which was tested in part during trials at UCSF, is approved for children age 2 and older to take either orally or through a gastronomy tube. It is to be taken twice daily.
However, the question of whether Daybue could slow down the progression of Rett syndrome is “a little bit beyond what we fully understand,” according to Tu.
“We’re still learning a lot about this condition, primarily the genetics and how it... changes throughout the life span of a patient. But this medication specifically is targeting an insulin-like growth factor molecule that helps to stabilize the neurons, so it helps to reduce inflammation in the brain,” she said, adding that “If it reduces inflammation… potentially the nerves survive longer and the connections are stronger… then the amount of skills and abilities that the girls can learn and experience throughout their lifespan is quite significant.”
Tu said Daybue can be thought of as a “disease modifying medication similar to what we use for diabetes or multiple sclerosis,” and that its goal is to reduce inflammation and cell death. Patients can experience improvement in social communication skills, fine motor skills, and some of the breathing abnormalities.
“It’s just so wonderful for this community because, you know, it’s a small community,” said Tu.
At UCSF, Katie’s Clinic (named after a Rett syndrome patient) has helped patients of all ages diagnosed with the condition for 20 years.
“Our clinic is unique in the fact that we see patients of all ages. We have adults in our clinic. We have 40-year-olds in our clinic,” she said. “And their primary reason for that is we are a multidisciplinary center where we have multiple specialists that all come together in one setting.”
Learn more about Katie’s Clinic here.
Related
