POcKIT Study: At-Home Study for Young Children with FXS
Purdue University is conducting a research study to learn about how genetic, biological, nutritional, and environmental information relates to health and development in Fragile X syndrome.
Study: Adolescents and Adults with IDD Needed for a Spatial Abilities Study
The Spatial Development Lab at Montclair State University is conducting a research study to learn about spatial abilities, such as why we sometimes get lost in the environment. About the Study Who can participate? ...
AI–Assisted Phenotype Discovery of Fragile X Syndrome in a Population-Based Sample
This study is important for later-diagnosed individuals as it creates successful predictive models that can identify cases five years earlier than clinical diagnosis.
Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
Congratulations to the 2021 NFXF Summer Scholar Recipients
Congratulations to our four NFXF Summer Scholars! The Summer Scholars Research Awards are meant to introduce undergraduate students or students in professional training programs to research in the Fragile X field by providing funding for a summer project that adds to the body of knowledge around Fragile X in a meaningful way while providing a distinct training experience.
Benefit of BPN14770 for Cognition and Daily Function in Fragile X Syndrome
Your summary of the results, including why it matters to you and next steps, from the Dr. Liz Berry-Kravis and Tetra Therapeutics BPN14770 trial results published in Nature Medicine. This was a randomized, double-blind, placebo-controlled, two-period crossover study.
Survey: Medication Trials — What Should We Do Next?
Researchers at The Patrick Wild Centre are asking for your opinion on clinical trials and medications for Fragile X syndrome. Have a say in the future of clinical trials for Fragile X by filling out a 10-minute online survey.
Research Study: Power of the Point — Predictors of Early Language Development in Fragile X Syndrome
The Development in Neurogenetic Disorders Lab at the University of Illinois at Urbana-Champaign is conducting a research study to learn about what skills support early language development.
The Fragile X Premutation Registry is Now International
When we first launched the registry in November 2020, we weren’t yet able to accept non-U.S. registrants. There’s a lot of regulations and standards to work through on a project like this, but now we are truly living up to our name!
PFDD Meeting Community Forum
The Patient-Focused Drug Development (PFDD) meeting on Fragile X syndrome is just around the corner! We need caregivers and self-advocates to participate to make this a valuable meeting. This will help you understand what to expect and what the goal is and how to share your story.
Survey: Share Your Experience With Telehealth and Services During COVID
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
We know that FMRP is expressed throughout our body, including our blood, tissues, and brain. Levels of FMRP in the blood of patients with FXS have been positively correlated with cognitive performance, specifically intelligence quotient and adaptive behavior.
Study: Focus Group on Difficulty with Changes and Rigid/Inflexible Behaviors in Fragile X Syndrome
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.