New drug brings hope to those with Rett syndrome

LANSING, Mich. (WILX) — You’ve seen your child reach all of their milestones — like crawling, walking, and even babbling their first words — but as they grow, they begin to rapidly lose their coordination, ability to speak and use their hands.

This is what happens to children with Rett syndrome, a rare genetic neurological and developmental disorder. There’s no cure, but a new drug awaiting FDA approval is giving families much-needed hope.

Like most girls her age, 8-year-old Savannah Patrick loves watching movies and listening to music. It’s one of the tools her mother uses to help Savannah communicate.

Savannah started developing normally as a baby, but things changed around her first birthday.

“She actually started to regress and lose the skills she had before,” said Jamie Patrick, Savannah’s mother.

“They lose the ability to speak, they lose the ability to use their hands, and they develop a characteristic repetitive hand motion. Additionally, they have difficulty walking,” Dr. Jeffrey Neul said.

It mainly affects girls. There are therapies to treat the symptoms of Rett syndrome, such as speech therapy or occupational therapy, but there is no treatment to cure the disorder.

Researchers have concluded a phase three trial that could lead to the first drug approved by the FDA to treat Rett syndrome. Researchers evaluated the oral drug Trofinetide on nearly 200 girls with Rett syndrome. According to the study, 95% of participants opted to continue taking the drug in the extension studies.

Savannah took part in the study and her mother said it could make a difference.

“Just the hope it gives us is huge,” Patrick said.

If approved, Trofinetide could be available to patients as early as 2034.

Continued: Health Stories

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