A drug that was tested at the University of Alabama at Birmingham has garnered approval from the United States Food and Drug Administration.
The drug is called trofinetide. It is marketed as Daybue, the first treatment for Rett syndrome, a rare, genetic neurological disorder. Patients with Rett syndrome experience a progressive loss of motor skills and language, and the syndrome leads to severe impairments affecting nearly every aspect of life, including the ability to speak, walk, eat and breathe.
An oral solution manufactured by Acadia Pharmaceuticals, Daybue is approved for the treatment of Rett syndrome in adults and children 2 years of age or older. The drug was evaluated in a 12-week study, with researchers at UAB enrolling some of the study subjects in the multi-site trial.
“Daybue is not a cure for Rett syndrome,” said Dr. Alan Percy, professor of pediatric neurology at the UAB Marnix E. Heersink School of Medicine and an internationally renowned researcher and clinician in Rett syndrome. “The primary goal in caring for patients with Rett syndrome is to provide incremental improvement."
Patients take Daybue either orally or via a gastrostomy tube.
“The biggest concern parents or caregivers have is the inability of the patient to communicate,” Percy said. “Many engage in breath-holding behavior, and often don’t verbalize their feelings or needs. The drug seems to lead to better attention from patients and better interaction between patient and caregiver.”
Percy, who holds the Sarah Katherine Bateh Endowed Professorship for Rett Syndrome, and co-investigator Dr. Amitha Ananth, assistant professor in the Department of Pediatrics, said families and teachers reported that patients were more receptive and responded better to questions. Those on the drug were more likely to tell caregivers about aspects of daily living, such as if they were hungry or needed to go to the bathroom.
Acadia Pharmaceuticals reports that trofinetide/Daybue works by reducing inflammation in the brain, stopping certain types of cells from becoming overactive and increasing the amount of a naturally occurring protein called IGF-1.
