News

An overview of patients with atypical deletions causing Prader-Willi syndrome (PWS) suggests deletions in the SNURF-SNPRN and SNORD-116 genes are crucial for developing major PWS symptoms, a new study reports. The study “Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype,” was published in the Journal of Clinical Medicine. PWS…

Cells of adipose tissue, or body fat, may go awry long before weight gain takes off in children with Prader–Willi syndrome (PWS), according to a new study — and a missing cluster of genes called SNORD116 may be the reason why. The findings add information about what’s behind the…

The frequency of certain cognitive and behavioral symptoms in children with Prader-Willi syndrome (PWS) depends on their specific type of genetic defects, according to a study in China looking at more than 100 patients. Notably, a deletion of paternal genes on chromosome 15 — the most common cause of…

Aripiprazole, a treatment used for schizophrenia and other brain disorders, may potentially worsen behavioral problems in young people with Prader-Willi syndrome (PWS), according to a small study. Symptoms such as aggressiveness, irritability, and impulsiveness intensified in six people with PWS who received aripiprazole, but eased once they stopped taking…

There may be changes to how the “feel-good” hormone oxytocin works in patients with Prader-Willi syndrome (PWS) in general, and in those with psychosis, according to findings from a small study in Germany. Researchers found that OXTR, the gene that codes for the oxytocin receptor, is not as methylated in…

Sleep disturbances in people with Prader-Willi syndrome (PWS) are linked with psychosis-risk symptoms, a study reports. Psychosis refers to disturbed thoughts and perceptions that may make it difficult to understand what is real and what’s not. The findings also indicate neurobehavioral symptoms and cognition can be analyzed remotely in…

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…

The first patient has been randomly assigned to a dosing group in the pivotal Phase 2/3 SCOUT-015 trial, which will evaluate the safety and efficacy of RAD011, an investigational cannabidiol oral treatment, in people with Prader-Willi syndrome (PWS). SCOUT-015 (NCT05098509) is designed to test the effects of…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. 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.

Early treatment with growth hormone — before 1 year of age — was associated with better body composition and cognitive function after eight years in children with Prader-Willi syndrome (PWS), according to a recent Dutch study. The findings support additional research favoring early treatment with growth hormone for…