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…
News
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.
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…
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