News

Treatment with OV101 (gaboxadol) was well-tolerated and significantly eased behavioral and functional symptoms in people with fragile X syndrome, top-line data from a Phase 2 clinical trial show. The results support the development of OV101, and the company plans to discuss next steps with regulatory agencies, ultimately seeking to…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Poorer health-related quality of life (HRQoL) correlate with greater emotional, behavioral, and school problems in children with fragile X syndrome, according to a study involving parent questionnaires. The study, “Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome,” was published in the journal…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

A procedure for measuring language skills, called expressive language sampling (ELS), could be used to assess treatment outcomes in people with fragile X syndrome and other conditions characterized by intellectual disability, a new study suggests. The study, “Expressive language sampling as a source of outcome measures for…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Genetic testing for fragile X syndrome (FXS) should be reserved as a second-line strategy for people without clinical features or family history suggestive of FXS, according to a Canadian study. Researchers argued that 96% of FXS cases were identified through clinical symptoms and/or family history of FXS. The study…

Trifluoperazine, an approved antipsychotic medication normally prescribed to treat schizophrenia and anxiety, may be a promising therapeutic candidate for people with fragile X syndrome, a new study suggests. The study, “Transcriptome signature analysis repurposes trifluoperazine for the treatment of fragile X syndrome in…

A small RNA molecule detectable in urine, called miR-125a, may provide a new biomarker for fragile X syndrome that could be used to group patients based on individual differences in brain pathways, an early study suggests. The study, “Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile…