News

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.

Repeated and well-structured upper body training of girls and women with Rett syndrome improves reaching and grasping ability, attention span, and reduced repetitive movements, a study suggests These findings highlight the relationship between attention and motor abilities, which has implications for the development of motor rehabilitation programs for these…

The Rett Syndrome Research Trust (RSRT) has received a large donation from SANTÉ Realty Investments, a provider of real estate investment services, to help search for a cure for Rett syndrome. SANTÉ Realty’s contribution was inspired by personal events in the life of the company’s CEO, Jim…

Treatment with a modified version of the MeCP2 protein, one designed to better get into cells, markedly extended lifespans in a mouse model of Rett syndrome, a study reports. The MeCP2 protein here was modified by adding a sequence derived from the human immunodeficiency virus (HIV) — a virus…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Huda Zoghbi, MD, the neurologist who discovered the MECP2 gene that causes most Rett syndrome cases, has been awarded the 2022 Kavli Prize in the field of neuroscience. Her discovery of the Rett gene provided a straightforward genetic test that allows an early and accurate diagnosis of the rare neurodevelopmental…

Cannabidivarin (CBDV) treatment was well tolerated and reduced the monthly frequency of seizures in five children with Rett syndrome, according to data from a Phase 1 trial. “In our small patient cohort [group] of children with drug resistant epilepsy and MECP2-related RTT [Rett syndrome], CBDV treatment was well tolerated…

NGN-401, a new gene therapy in the pipeline from Neurogene, extended the lifespan and reduced the disease burden in mice with a form of Rett syndrome, the company announced. Researchers also observed that the therapy was safe when delivered to mice or early in the life of…