Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
Patient enrollment is now complete for the pivotal STARS study investigating the safety, tolerability, and effectiveness of sarizotan in Rett syndrome patients with respiratory abnormalities, Newron Pharmaceuticals announced. Top line results from the Phase 2/3 clinical trial are expected in the last quarter of 2019. Sarizotan was developed…
The Rett Syndrome Research Trust (RSRT) has awarded $10 million to a host of top international researchers to help find a cure for the neurological disorder. The 2018 award is the organization’s largest since its founding in 2008. To date, RSRT has awarded some $57 million for research. The…
A 6-month music therapy program improved social interaction and communication skills and reduced seizure occurrence among Rett syndrome patients, as well as relieving parental stress, a new study showed. The research article, “The effectiveness of music therapy for individuals with Rett syndrome and their families,” was published…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
Dentists should be aware that children diagnosed with Rett syndrome can develop several oral symptoms that could affect their overall health and quality of life. The study with that finding, “Oral findings in Rett syndrome: An update and review of the…
Rett syndrome has a significant impact on the lives of those living and caring for children with this complex disorder, with caregivers likening it to an “obstacle course,” a study shows. Healthcare systems and health policies should take these findings into consideration to help improve the outcomes of those affected…
Like typically developing children, girls with Rett syndrome can distinguish known words from meaningless non-words when spoken to, but may do so using potentially peculiar neural processes, compared with their peers, according to a study. The research, “Spoken word processing in Rett syndrome: Evidence…
A high-fat diet can lead to extreme obesity in Rett syndrome patients due to excessive calorie intake, and to brain networks unable to fully control feeding behavior, a mouse study suggests. The easy availability of high-fat foods in modern diets may further compound the problem — whose root cause is genetic…
Researchers from the Maastricht University in the Netherlands have suggested a series of adaptations to help with the assessment of eye movements in patients with Rett syndrome. Their study, “Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography,” was published in the European…
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