News

A form of gene therapy based on providing an unstable version of the MECP2 gene extended survival and improved motor function in a mouse model of Rett syndrome, a study reports. The study, “Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Problems with nerve cell communication and adaptation in the brain’s motor cortex is associated with the severity of motor difficulties in people with Rett syndrome, a study shows. The research — which used a non-invasive method to show such neural deficits in Rett patients for the first time —…

A comprehensive metabolic analysis uncovered significantly different levels of 66 molecules in people with Rett syndrome compared to their non-affected siblings, potentially providing a foundation to help better understand and treat the disease. The study, “Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings,” was published in the journal…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

Anavex Life Sciences announced plans to continue to screen and enroll patients into its active trials for Rett syndrome and Alzheimer’s disease, in accordance to institutional rules and government guidance related to the COVID-19 pandemic. A Phase 2 study of people with dementia linked to Parkinson’s disease is fully…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

Treatment with insulin-like growth factor 1 (IGF-1) eases symptoms of Rett syndrome by suppressing the activity of FXYD1 — a molecule found in higher-than-normal levels in Rett patients — according to a study in a mouse model of the disorder. Besides supporting the previously reported potential…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Amicus Therapeutics has opened its Global Research and Gene Therapy Center of Excellence that will seek to advance research programs in Rett Syndrome and several other rare diseases. Besides Rett, the Center will focus on Angelman Syndrome, muscular dystrophies and lysosomal storage disorders, such as Pompe and…