News

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…

Newron Pharmaceuticals has received the final minutes from a meeting with the U.S. Food and Drug Administration (FDA) regarding the pivotal STARS Phase 2/3 clinical trial investigating sarizotan as a potential treatment for people with Rett syndrome…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

The type of mutation in the MECP2 gene in people with Rett syndrome is a strong predictor of bone disease severity, a study suggests. Patients with more severe mutations in the gene showed greater bone deterioration, and were more likely to have scoliosis (spine curvature) and walking…