The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
Researchers around the country are conducting a study to better understand cognitive profiles in adults with intellectual disability. This study is an extension of the ongoing Toolbox Study, which is aimed to optimize cognitive assessment tools for children and young adults with intellectual disabilities.
Rush University is conducting a research study to validate a rating scale created to assess the motor symptoms of people with FXTAS – the “Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)”
Drs. Craig Erickson and Lauren Schmitt at Cincinnati Children’s Hospital are conducting a series of research studies to learn about the brain and cognition and how they are connected with genetic factors related to FXS.
UNC Chapel Hill is conducting a research study to learn about the early brain and behavioral development of infants with FXS to aid in the future development of better supports and treatments.
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
A longitudinal research study from The Wilkinson Lab at the Boston Children’s Hospital Labs of Cognitive Neuroscience to learn about how differences in brain activity affect learning, language, and behavior in Fragile X Syndrome.
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
This study shines a light on the need for better long-term support and care planning for individuals with Fragile X syndrome.
This study will evaluate the efficacy and safety of ZYN002, a clear gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X syndrome (FXS).
Raising knowledge and awareness of Fragile X syndrome to medical professionals leads to direct benefits for families and individuals.
The aim of this study was to determine parents’ main priorities for clinical trials, at a time when the clinical trial opportunities are on the rise.
We asked this year’s four NFXF Summer Scholars — Collis Brown, John Burwinkle, Bonnie McKinnon, and Elizabeth Saoud — to summarize their summer project in a 15-minute video presentation, and here they are!
