NASHVILLE, Tenn. (Ivanhoe Newswire) – It’s a rare genetic condition that’s often misdiagnosed as autism or cerebral palsy but a new drug – on the fast track for FDA approval – is giving families hope against Rett syndrome.
You watched your child hit all their milestones, such as crawling, walking, and even babbling their first words. But then, as they continue to grow, they start rapidly losing their coordination, ability to speak, and the use of their hands.
“She is, sort of, my forever infant,” says Jamie Patrick, mother of Savannah Patrick, who has Rett syndrome.
This is what happens to children with Rett syndrome, a rare genetic neurological and developmental disorder. Currently, there is no cure, but a new drug up for FDA approval is providing families with much needed hope.
Like most girls her age, eight-year-old Savannah Patrick loves to watch movies and listen to music.
Music is one of the tools her mom, Jamie, uses to help Savannah communicate. Savannah was developing normally, until she turned 12 months old and was then diagnosed with Rett syndrome.
“She actually started regressing and losing skills that she had previously,” Jamie told Ivanhoe.
Dr. Jeffrey Neul, MD, PhD, director at the Vanderbilt Kennedy Center, said, “They lose the ability to speak, the ability to use their hands, and develop a characteristic repetitive hand movement. They also have trouble walking.”
Rett syndrome primarily affects girls and currently, there are therapies to treat symptoms of the disorder such as speech therapy and occupational therapy, but there are no treatments to cure it. However, researchers have wrapped up a phase three trial, which could lead to the first ever FDA-approved drug to treat the disorder. 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,” Dr. Neul explains.
After the Lavender study, 95 percent of participants elected to continue to take the drug in extension studies. Savannah took part in the Lavender study and her mom, Jamie, says it can make a difference.
“The hope that it gives us is huge,” Jamie expresses.
If approved, researchers say Trofinetide could be available to patients as early as 2023. The biggest side effects doctors have seen in the trial for the drug include G.I. issues, such as diarrhea and vomiting.
Contributors to this news report include: Milvionne Chery, Producer; Roque Correa, Videographer, Editor.
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Source:
https://clinicaltrials.gov/ct2/show/NCT04181723
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: LAVENDER TRIAL FOR RETT SYNDROME
REPORT: MB #5037
BACKGROUND: Rett syndrome is a rare genetic neurological disorder that occurs primarily in girls. It can lead to severe impairments, affecting the ability to speak, walk, eat, and even breathe easily. The known characteristic of Rett syndrome is constant repetitive hand movements. It is usually recognized in children between 6 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.
(Source: https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/)
SIGNS AND SYMPTOMS: The signs, symptoms, and severity of Rett syndrome can vary dramatically from one person to another. Infants affected are described as having normal development until approximately six to 18 months of age. However, researchers have noted they are often described as being very docile, have a poor sucking ability, and a weak cry. Head growth can slow down as early as three months of age. Between six and 18 months of age, they may enter a period of developmental stagnation where loss of eye contact and a lack of interest in play or games may occur. Irritability, crying and restlessness may be seen as well. After this period, between 1-4 years of age, affected individuals begin to lose previously acquired skills, specifically spoken language skills and hand skills. Some individuals may lose the ability to interact socially. This deterioration can be rapid or gradual.
(Source: https://rarediseases.org/rare-diseases/rett-syndrome/)
PROMISING NEW DRUG: A potential treatment for the symptoms of Rett syndrome received positive top-line results from a study led by researchers from Vanderbilt University Medical Center. Known as the Lavender study, it was a phase 3, 12-week, double-blind, randomized, placebo-controlled study of the drug trofinetide. It studied 187 young females, ages 5 to 20, with Rett syndrome. The drug met co-primary efficacy endpoints demonstrating statistically significant improvement over placebo. It also met its key secondary endpoint, demonstrating a statistically significant separation over placebo. “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,” said Jeffrey Neul, MD, PhD, Annette Schaffer Eskind Professor and director of the Vanderbilt Kennedy Center. Neul continued, “A potential treatment for Rett syndrome is an important step forward in addressing this rare and serious neurological disease.”
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Craig Boerner
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