News

Patients with milder forms of IQSEC2‐related intellectual disability experience symptoms and have an overall clinical course very similar to those with atypical Rett syndrome, a study has found. Based on these similarities, people carrying IQSEC2 gene mutations may be included in the wide clinical spectrum of Rett, and this form…

Use of PTX-BD4-3, a small molecule that activates a protein receptor involved in a pathway that appears to be impaired in Rett syndrome, improved motor and respiratory function in a mouse model of the disease, a study found. These findings support further studies to better characterize PTX-BD4-3, possibly preparing…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…

Girls and women with Rett syndrome may have increased rate of menstrual seizures, also known as catamenial seizures, compared to healthy females, a study reports. Age of onset, and duration and flow of menstruation in girls and women with Rett were similar to healthy girls. Bone health concerns was…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

In people with Rett syndrome, cells known as fibroblasts have a distinct protein production profile — called a proteome — that overrepresents biological pathways related to immune function and inflammation, a small study reports. These findings may help researchers better…

Anavex 2-73 (blarcamesine), an investigational treatment for Rett syndrome, lessened the disease’s characteristic behavioral features, its severity, and levels of the glutamate biomarker with no serious side effects, top-line results of a Phase 2 clinical trial in adult patients show. Based on these findings, Anavex Life…

Scientists have identified two compounds that were able to rescue nerve cell defects caused by mutations in the MECP2 gene — the most common cause of Rett syndrome — in patient-derived cellular models, including “mini-brains.” These findings support the launch of a pilot clinical trial evaluating these compounds —…