News

Zynerba Pharmaceuticals has completed enrollment for the CONNECT-FX trial testing its cannabidiol gel, Zygel, as a treatment for behavioral symptoms in children and teenagers with fragile X syndrome. Recruitment took place at 21 clinical sites in the United States, Australia, and New Zealand. Topline results from…

Treatment with Zygel (ZYN002) may help ease the significant effects fragile X syndrome (FXS) has on children, updated results of a Phase 1/2 clinical trial suggest. Zynerba Pharmaceuticals presented the results at the 2020 American Society for Experimental Neurotherapeutics…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

The U.S. Food and Drug Administration (FDA) has authorized the marketing of Asuragen‘s AmplideX Fragile X Dx and Carrier Screen Kit, a first genetic test to help diagnose fragile X syndrome and determine the likelihood of having a child with the condition. “This novel diagnostic provides doctors and their…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Repeats in the FMR1 gene — which cause fragile X syndrome — help to regulate the normal production of the FMRP protein in nerve cells, a new study shows. This finding has implications for understanding the biology of repeats in the genome, and could pave the way for new therapies for…

Researchers have discovered that the fragile X mental retardation protein (FMRP) — the key protein lacking in fragile X syndrome — interacts with small fragments of a gene called eIF4G to control the production of proteins involved in nerve cell communication and memory. The findings were reported…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…