News

Ten new mutations in the MECP2 gene have been identified in a group of children and adults with Rett syndrome, a Japanese study reports. The study, “Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome,” was published in the journal…

Treatment with Anavex 2-73 was seen to improve motor skills, acoustic responses and visual acuity in a mouse model of Rett syndrome, supporting ongoing Phase 2 studies in patients. Its use also helped to lessen abnormal movements and ease breathing in these mice, its researchers said. The study, “…

In partnership with the Rett syndrome community, Newron Pharmaceuticals has launched a groundbreaking International Rett Syndrome Burden of Illness Survey. The first of its kind, the study will examine the physical, emotional, and financial impact of Rett syndrome on patients, families, and caregivers. Its findings are expected…

A Phase 3 clinical trial is recruiting girls and young women with Rett syndrome to explore the safety and efficacy of the investigational oral therapy trofinetide. The study, named LAVENDER, is planning to enroll 180 girls and women, 5 to 20 years old, at clinical sites in the…

Treadmill walking exercises can help improve gait speed and dynamics in people with Rett syndrome, a study suggests. However, the investigators cautioned that additional research is warranted to confirm these findings and explore the beneficial impact of treadmill training in this patient population. The study, “Kinematics associated with…

Lack of a functional MeCP2 protein leads to Rett syndrome by altering levels of brain proteins associated with energy metabolism and protein regulation, a study in a mouse model suggests. These altered protein levels might also predict Rett syndrome’s progression, the investigators said. The study, “Brain protein…

Taking coenzyme Q10 (CoQ10) — a natural antioxidant — as an oral dietary supplement can ease oxidative stress associated with symptom severity and Rett syndrome progression, a small Italian study suggests. The study, “Effects of oral administration of common antioxidant supplements on the energy metabolism of red blood cells.

A newly identified mutation in the MECP2 gene — which is linked to Rett syndrome  — was found in two females in Germany who lacked all the common symptoms of the disorder, suggesting these are two cases of atypical Rett syndrome. The report, “Novel MECP2…

  Defects in mitochondria — cells’ powerhouses — and nerve cell damage resulting from increased oxidative stress may account for the some of the cellular defects observed in Rett syndrome and CDKL5 deficiency disorder, a related neurodevelopmental disorder. The study, “Aberrant mitochondrial function in patient-derived…

From social media efforts to lighting public attractions purple, efforts are underway to observe Rett Syndrome Awareness Month. Rettsyndrome.org is helping to lead the charge, offering ways to bring greater visibility to the rare neurodevelopmental disorder, estimated to occur in 1 of every 10,000 to 23,000 female…