NASHVILLE, Tenn. — There's a new treatment for a rare genetic neurological disorder that mostly impacts girls as they start to develop.
The disorder is Rett syndrome.
At a certain age as a toddler, those with the syndrome start rapidly losing their coordination, ability to speak, and the use of their hands.
The family of 8-year-old Savannah Patrick is dealing with it every day.
Savannah started developing normally as an infant.
But that changed at 12 months.
"She actually started regressing and losing skills that she had previously," her mother Jamie Patrick recalled.
Researchers at the Vanderbilt Kennedy Center have treated it before.
"They lose the ability to speak, and they lose the ability to use their hands, and develop a characteristic repetitive hand movement. Furthermore, they have trouble walking," said Center Director Dr. Jeffrey Neul.
Find out more at the International Rett Syndrome Foundation website.
It primarily affects girls and currently, there are therapies to treat symptoms of Rett syndrome, such as speech therapy or occupational therapy, but there are no treatments to cure the disorder.
But researchers have wrapped up a phase three trial of Trofinetide, an investigational drug being evaluated to treat the core symptoms of Rett, which relate to hand movements and communication as measured on the assessments of the clinical trial.
In the Lavender study, researchers evaluated the oral drug trofinetide on nearly 200 girls with Rett syndrome.
"It seemed to improve how alert and interactive people were, which helps improve how much they can communicate," Neul explained.
After the Lavender study, 95% of participants elected to continue to take the drug in extension studies.
"Patients reported improvements in core symptoms, like being able to respond to a choice when asked by their parents or experiencing more freedom from the repetitive hand movements that create obstacles in other areas of their lives," Neul added.
Savannah took part in the Lavender study and her mom said this can make a difference.
"Just the hope that it gives us is huge," she said.
If approved, researchers say trofinetide could be available to patients as early as 2023.
Diagnosing Rett's characteristics
The known characteristic of Rett syndrome is constant repetitive hand movements. It is usually recognized in children between six to 18 months as they begin to miss developmental milestones or lose abilities they had gained.
Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2, and there are more than 900 different mutations found on this gene.