The University of Rochester Center for Health + Technology is conducting a survey to learn about the most prevalent and impactful symptoms of FXS that the individual experiences, as reported by the caregiver. This information will then be used to develop a survey as a caregiver-reported outcome measure to be implemented in clinical trials and patient monitoring.
About the Study
Who can participate?
Caregivers who are 18 years and older that are caring for an individual with any variation of Fragile X (FXS or the Fragile X premutation) may be eligible to participate.
What will happen in the study?
If the caregiver qualifies and decides to participate in this research study, they will complete an online survey twice (separated by two weeks) regarding the symptoms experienced by the individual with FXS, as reported by the caregiver. The survey should take about 20 minutes or less to complete. The survey may be completed in more than one sitting.
What are the good things that can happen from this research?
Information from this study can help build on the research already published and help provide further information regarding the disease burden of individuals with FXS.
We hope to publish the results of this study and develop a fully validated, disease-specific, observer-reported outcome measure to be implemented in therapeutic trials and patient care.
What are the bad things that can happen from this research?
Risks for the study are minimal. Some of the questions may make you feel uncomfortable. You will not be required to answer any question that you do not know the answer to or do not wish to answer. There are no other expected risks to you for participating in this study.
There may be other risks that we do not know about yet.
Will I or my child be paid to complete this study?
There is no payment for participating in this study.
Interested in Participating?
Our Most Recent Opportunities
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Cincinnati Children's Hospital Medical Center is looking for males ages 18-40 with FXS to participate in a single-dose clinical trial that is studying a drug called Gaboxadol.
Study: Somatic symptom development in 6-12 year old females with an FMR1 mutation (SoS Study)
Researchers at the New York State Institute for Basic Research are conducting a study to better understand the development of physical (somatic) symptoms in females living with and without an FMR1 gene variation.
Study: Web Intervention for Parents of Youth with Genetic Syndromes (WINGS)
Researchers at the Autism Assessment, Research, Treatment & Services (AARTS) Center at Rush University Medical Center are currently conducting a fully-virtual research study that is testing two telehealth interventions that are designed to help parents of children with genetic syndromes and intellectual disabilities gain strategies to manage challenging behaviors.
Neural Underpinnings of the Relationship Between Cognition and Gait Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Movement disorders researchers at Rush University Medical Center are conducting a research study to learn about brain activation in people living with FXTAS during tasks like walking and thinking. This study is currently recruiting adults ages 50+ who are living with FXTAS.
Pharmacogenomics and the Fragile X Community: Interest and Prior Understanding
Researchers at the University of Alabama are looking for members of the FX community to take their online survey so they can explore the knowledge & opinions of the FXS community on pharmacogenomic testing.
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Help the NFXF - share your thoughts on gene therapy.