News

The U.S. Food and Drug Administration (FDA) has set an action date of March 12, 2023 to decide whether or not to approve the experimental oral therapy trofinetide for Rett syndrome. If approval is granted, trofinetide would become the first treatment for Rett ever approved by the FDA.

Levels of a small RNA molecule called miR-101a may be elevated in certain brain regions of people with Rett syndrome, according to a preclinical study. The data suggest that higher miR-101a levels can alter signals sent by nerve cells, which may impair normal brain circuitry to contribute to the…

A so-called positive allosteric modulator aimed at increasing activity at a subset of muscarinic acetylcholine receptors (mAChRs) — called M1 receptors — improved behavior and eased respiratory symptoms in a mouse model of Rett syndrome, a study found. The beneficial effects of the compound, dubbed VU595, could in part…

Older age and increased muscle stiffness are linked with more severe scoliosis, a sideways curvature of the spine, in girls and women with Rett syndrome, according to a small study. Other factors associated with scoliosis severity included impaired walking and difficulties going up and down stairs. No link…

Children with Rett syndrome whose disturbed breathing eased after treatment with mecasermin, a lab-made version of the growth hormone IGF-1, had unique gene activity profiles before and in response to treatment, according to an analysis of Phase 1 trial data. These findings suggest that different molecular subgroups were evident at…

A recent meal or snack does not affect the pharmacological profile of trofinetide, an experimental oral treatment for Rett syndrome, according to findings from a Phase 1 study in healthy adults. Food can affect how a drug moves through a patient’s body, or its pharmacological profile, the researchers…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

Acadia Pharmaceuticals is asking the U.S. Food and Drug Administration (FDA) to approve its oral candidate trofinetide for the treatment of children and adults, ages 2 and older, with Rett syndrome. Over the next two months,…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

Unravel Biosciences, which is working toward a first clinical trial to test its investigational therapy RVL001 in people with Rett syndrome, announced that it has partnered with the rare disease health platform TMA Precision Health to identify eligible patients for recruitment into the study.