The U.S. Food and Drug Administration (FDA) has granted orphan drug and rare pediatric disease designations to TSHA-102, a potential gene therapy for Rett syndrome. Taysha Gene Therapies, the treatment’s developer, plans to submit an investigational new drug application to the FDA in 2021 to…
Researchers have identified a new mutation in the KIF1A gene in a girl in Australia that is associated with Rett syndrome, ending her 15-year diagnostic journey. Two new other KIF1A mutations also were found in two patients showing a severe neurodevelopmental disorder with some Rett-like features. These mutations affected…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
The National Institute for Neurological Disorders and Stroke, a division of the National Institutes of Health (NIH), awarded nearly $500,000 for a study seeking biomarkers of Rett syndrome. The $498,572 grant was awarded to DiamiR to conduct a study called “Circulating Organ-enriched microRNAs as biomarkers of…
A number of events are in the works to mark Rett Syndrome Awareness Month, observed each October to heighten awareness about the rare neurodevelopmental disorder. Patients, caregivers, and advocates may, among other activities, share stories on social media, attend virtual events, hold Facebook fundraisers, and sport temporary tattoos —…
Walking overground or on a treadmill is suitable as a tool to observe and detect gait changes in people with Rett syndrome, a small study has found. The study, “Characteristic behaviors associated with gait of individuals with Rett syndrome,” was published in the journal Disability…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest…
Addressing changes in the adenosine system, essential for nerve cell function in the brain, may be a therapeutic strategy in Rett syndrome, a study in mice reported. The study, “Impairment of adenosinergic system in Rett…
Patients with Rett syndrome have similar spinal surgery outcomes to those of people with cerebral palsy (CP), according to new research. The findings also revealed comparable degrees of spine abnormalities before surgery, as well as similar duration of hospital stays. The study, “Surgical outcomes…
Rettsyndrome.org has launched the International Rett Syndrome Foundation Medical Advisory Board, aiming to enhance care and research to help people with the neurodevelopmental disorder, according to the non-profit. The Advisory Board, composed of 11 Rett syndrome experts across leading hospitals and academic centers in the U.S., is chaired…
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