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The use of microRNA molecules that targeted a protein receptor important for nerve cell growth led to improved behaviors and motor function in a Rett syndrome mouse model, a study shows. These molecules were carried by tiny vesicles called exosomes, which were derived from human urinary stem cells. The…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
Clinical improvements with Anavex 2-73 (blarcamesine) correlated with activation of the SIGMAR1 gene, which provides instructions for making the protein targeted by the investigational Rett syndrome therapy, in a Phase 2 study. The sigma-1 receptor, or SIGMAR1, has been associated with helping nerve cells adapt to experience and injury, and…
The nonprofit Rett Syndrome Research Trust (RSRT) and Duke University’s Center for Health Measurement are asking Rett syndrome caregivers to help with a study aiming to adapt and validate a tool that could allow researchers to better understand patient responses to therapies being testing in clinical trials. The tool — called…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
Alcyone Therapeutics, a new company focused on developing gene therapies for disorders that affect the nervous system, announced its official launch. One of its lead candidates, ACTX-101, is an investigational gene therapy for Rett syndrome now in preclinical testing with a goal of bringing into clinical trials in patients…
The Rett Syndrome Research Trust (RSRT) has given two researchers $1.1 million to collaborate on the development of a therapy capable of switching on a healthy, backup copy of MECP2 — the gene mutated in most cases of Rett syndrome. The collaboration involves Antonio Bedalov, MD, PhD, a…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
Bruxism, also known as teeth grinding and jaw clenching, during the night is associated significantly with frequent snoring in girls and women with Rett syndrome, an international database study shows. The data also support the previously reported high prevalence of bruxism (reported in 66.2% of patients) in this…
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…
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