News

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Zynerba Pharmaceuticals‘ Zygel failed to significantly ease behavioral symptoms in the overall group of children with fragile X syndrome (FXS) who took part in the CONNECT-FX trial, top-line results show. However, significant benefits were detected in participants with more severe symptoms, indicating that the experimental…

A parent language intervention based on story-telling eases the severity of speech and social impairments in children with fragile X syndrome, a study shows. The study also found that adding lovastatin, a medication widely prescribed for lowering cholesterol, leads to no additional benefits. The study “Controlled…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Low levels of pro-inflammatory proteins in the blood suggest that inflammation is not a hallmark of fragile X syndrome, according to a new study. The findings also indicated that assessing the levels of 16 proteins may be useful for diagnosing, classifying, and monitoring fragile X progression.

Oral treatment with trofinetide was well tolerated and, at a higher dose, eased social avoidance, anxiety, hyperactivity and other symptoms of fragile X syndrome in adolescent and adult males, results of a Phase 2 trial show. The study, “A Double-Blind, Randomized, Placebo-Controlled Clinical Study of…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

An Australian project is recruiting couples planning to have children or experiencing early pregnancy for a nationwide genetic study to screen for about 750 genetic conditions, including fragile X syndrome. Mackenzie’s Mission is an initiative named after the daughter of Rachael and Jonathan Casella, Mackenzie, who was born with…

Providing a fragment of the FMRP protein, which is missing in people with fragile X syndrome, eased hyperactivity and restored nerve cell communication in the brain, a study in a mouse model found. The study, “FMRP(1–297)-tat restores ion channel and synaptic function…

Shionogi has acquired Tetra Therapeutics, the developer of a treatment candidate known as BPN14770 for fragile X syndrome and Alzheimer’s disease. With the agreement, Shionogi obtains global rights to Tetra’s entire pipeline. It will continue developing BPN14770 — an investigational therapy for…