News

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

The National Fragile X Foundation (NFXF) will host a virtual patient-focused drug development (PFDD) meeting for fragile X syndrome on March 3. To be held from 10 a.m. to 2 p.m. EST, the meeting provides an opportunity for members of the fragile X community to help make sure their…

A nearly $2 million grant from the National Institute of Mental Health, part of the National Institutes of Health (NIH),  will help researchers understand the mechanisms underlying impaired protein production in fragile X syndrome. The awarded project, “Mechanism of Gp1 mGluR-dependent translation and plasticity,” is led by scientists Nien-Pei…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Telehealth, or telemedicine, can expand access to behavioral treatments for children with fragile X syndrome, a clinical study suggests. An approach called functional communication training, or FCT, delivered via telehealth, was found to ease irritability in boys with the disorder and to lower parenting stress in their caregivers. The…

A study in mice has identified 865 gene targets of the fragile X mental retardation protein (FMRP) — which is missing in people with fragile X syndrome — including more than 100 linked to autism and intellectual disability (ID).  Several FMRP targets associated with…

Zynerba Pharmaceuticals announced plans to open a pivotal clinical trial next year for its cannabidiol (CBD) gel Zygel in fragile X syndrome patients with severe symptoms, a group that showed improvements in a previous Phase 2/3 study.   According…

Techniques that evaluate the pattern of DNA methylation — a chemical modification normally associated with gene silencing — in a portion of the FMR1 gene are feasible and highly sensitive methods to diagnose fragile X syndrome in newborns, a study suggests. When used in newborn boys, and to a…

Confluence Pharmaceuticals will use a $100,000 investment to further its development of ACP, an investigational therapy that aims to treat social and communication impairments related to fragile X syndrome and autism spectrum disorder. The capital is from the Indiana University (IU) Philanthropic Venture Fund, which had…

The National Fragile X Foundation (NFXF) has launched the International Fragile X Premutation Registry to assist and encourage research into conditions caused by so-called premutations in the gene associated with fragile X syndrome. Created with an advisory committee of fragile X professionals, the registry has now been…