The U.S. Food and Drug Administration (FDA) has approved Daybue Stix (trofinetide), a dye- and preservative-free powder formulation of Daybue (trofinetide), as a treatment for adults and children, ages 2 and older, with Rett syndrome. The new formulation will provide Rett patients greater flexibility and choice in dose…
Discussion
Dec. 13 marks two years since my oldest daughter, Cammy, passed away from complications of Rett syndrome. She was 14 years, 9 months, and 3 days old. I hold on to that number because it matters. It’s not just a measure of time; it’s a line in our family’s…
People with Rett syndrome who also have epilepsy use more healthcare services, especially emergency room visits and hospital stays, a U.S. study reports. The increase was most pronounced in those with severe epilepsy, meaning seizures that last longer or don’t respond well to treatment. “It is important to educate…
Note: This story was updated Dec. 5, 2025, to correct the primary outcome in the Embolden study. NGN-401, an experimental gene therapy for Rett syndrome, led to functional improvements in all the girls who received the treatment in an early clinical trial, according to new data announced by its…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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