The International Fragile X Premutation Registry Advisory Committee just published their first publication, “The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness”.
University of Pittsburgh is conducting this research to develop the Adult Functioning Scale (AFS), a new survey being designed to capture outcomes in the areas of social functioning, employment, independence, and satisfaction for individuals with various developmental disorders.
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.
Researchers at Cincinnati Children’s Hospital Medical Center want to partner with you or your child to learn more about Fragile X. The Cincinnati Research & Treatment Center team will be conducting research in San Diego at the Town and Country Resort from July 12-14th, 2022 for International Fragile X Meeting attendees. All ages are welcome to participate.
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stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.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 cannabidiol (CBD) 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.
