Early changes in speech, including fewer varied sounds, may signal Rett syndrome before obvious developmental delays and this may help doctors reach a diagnosis sooner, a study of twin girls who didn’t share the same genetic makeup suggests. One twin developed normally, but the other, who was later…
Into-the-nose delivery of a solution containing clinical-grade human nerve growth factor (NGF) improved cognitive and motor function in a mouse model of Rett syndrome, including in male mice with more severe and rapidly advancing symptoms, a study has found. This could be “a non-invasive and effective route of administration…
Researchers used tiny, magnetic spheres to deliver a gene editing toolbox into stem cells prepared from a patient’s skin sample and correct a genetic mutation known to cause Rett syndrome. When the edited stem cells were given cues to turn into neurons (nerve cells) in the lab, they looked…
TSHA-102, an experimental gene therapy for Rett syndrome, appears to be well tolerated and may be of benefit in multiple areas, from gains in motor function and social skills to fewer seizures, regardless of the severity of a patient’s mutation, its developer, Taysha Gene Therapies, reported. These are…
The first episode of “Magnolia’s Guide to Adventuring,” a documentary series that follows people with Rett syndrome and their families as they head out on adventures across the U.S. to raise awareness and inspire others living with the disease, has been released. Overseen by award-winning producer AJ Tesler…
Taysha Gene Therapies has received the needed approval to move forward with dose escalation in its Phase 1/2 trial testing TSHA-102, its gene therapy candidate for Rett syndrome, in adolescents and adults, the company announced. That green light from the study’s independent data monitoring committee (IDMC) — a group…
An injection of Taysha Gene Therapies’ experimental gene therapy TSHA-102 into the spinal canal of young mice modeling Rett syndrome can improve weight, survival, breathing, and motor skills, a preclinical study suggests. The data support using the intrathecal route in ongoing Phase 1/2…
Up to nearly half of children and adults with Rett syndrome in the U.S. have digestive problems, resulting in added medical costs that average more than $4,400 per patient each year, a study finds. While gastrointestinal (GI) manifestations appear to represent a great burden…
A Phase 1/2 clinical trial has been cleared to infuse NGN-401, a one-time investigational gene therapy, to a third girl with Rett syndrome, its developer, Neurogene, reports. The green light given by the Data Safety Monitoring Board overseeing the clinical trial’s progress was based on data indicating…
Effective communication is a top concern for people affected by Rett syndrome or related disorders, a U.S. caregiver survey has found. Other top concerns for patients include seizures, problems with walking or balancing, loss of function in the hands, and constipation. Recent progress in understanding brain development disorders such…
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