While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
News
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
The anticonvulsant carbamazepine can normalize behavior and memory in a mouse model of fragile X syndrome (FXS), suggesting that this medication might be re-purposed to treat people with this disorder, according to a study. The study, “Carbamazepine Restores Neuronal Signaling, Protein Synthesis, and Cognitive Function…
Brain scans in men with fragile X syndrome showed reduced levels of the mGluR5 receptor — a protein receptor known to help regulate nerve cell communication — compared with healthy men, a pilot study found. These findings may help explain the failure of…
Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…
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…
Recent Posts
- Experimental therapy improves behavior, cognition in fragile X mice
- Advocates aim to answer the question ‘Fragile what?’ this awareness month
- Fragile X drug zatolmilast misses main goal in Phase 3 trials
- Targeting star-shaped brain cells reduces fragile X seizures in mice: Study
- Marvel planning trial to test fragile X treatment in healthy volunteers
- FRAXA backs upcoming Phase 2b trial of SPG601 for fragile X syndrome
- Daily use of diabetes drug metformin eases hyperactivity in fragile X boys
- USC researchers net $6.3M federal grant to study fragile X mutations
- 1st patient enrolled in Phase 2 trial of treatment for fragile X syndrome
- Phase 2 trial of experimental oral treatment enrolling fragile X males