News

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…

The U.S. Food and Drug Administration (FDA) granted rare pediatric disease designation to trofinetide, a potential oral therapy for people with Rett syndrome. The designation provides priority review to investigational treatments with potential to provide clinically meaningful benefits in serious or life-threatening rare diseases mainly affecting individuals younger…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

Restoring the levels of Wnt6, a signaling molecule involved in brain function, eased motor and behavioral difficulties in a mouse model of Rett syndrome, a study shows. These findings added to scientists’ knowledge of the underlying molecular mechanisms of Rett and may help develop new therapies for those…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…