At a Glance
- Study Type: Study
- Condition: Premutation or full mutation Fragile X
- Age: 0–5
- Sex: All
- Participant: Child plus parent or caregiver
- Location: Home
- Travel Considerations: No travel required
- Sponsor: The John Merck Fund
We are currently enrolling children born in North Carolina.
RTI International and the University of North Carolina at Chapel Hill are conducting a research study to learn more about early development of young children with Fragile X in North Carolina, and the experiences of their parents when obtaining the diagnosis and early intervention services.
This research study is currently seeking male and female children that have a premutation or full mutation Fragile X (including mosaic) and meet the following criteria:
- Age 0–5.
- Born in North Carolina.
- Lived in North Carolina between the ages of 0 and 3 years.
- Live in a home where English is the primary language spoken.
What to Expect
Research study activities for qualified children and their parents include:
- Home Visits: Depending on the child’s age, there will be 1–3 home visits (developmental assessments) with you and your child, each taking 2–3 hours:
- At enrollment
- Age 3
- Age 5
- Summary Reports: After each visit, you will receive a brief summary report about your child’s development plus a $50 gift card for your time.
- Questionnaires: Parents will be asked to complete some questionnaires (approx. 1–2 hours).
The following is a list of some of the assessments and questionnaires that will be included in the study:
- Bayley-3/SB-5 (50 mins)
- PDMS-2 (30–45 mins)
- AOSI (up to 18 months) 20 mins/ADOS (45–60 mins)
Parent Report Questionnaires: Questionnaires will be sent ahead of time so that parents have plenty of time to complete.
- Vineland Adaptive Behavior Scales, Third Edition (20 mins)
- Sensory Profile, Second Edition (10–20 mins)
- Rothbart Temperament Very Short Forms (10 mins)
- Medical Outcomes Study-Social Support Survey (5 mins)
- Feeding Flock Assessment. (1–2 surveys, 10–20 mins)
- Sleep Questionnaire (5 mins)
- Family Demographics including FX status (5 mins, 1st visit only)
- Behavior Rating Inventory of Executive Function (BRIEF) (15 mins)
- State-Trait Anxiety Inventory (10 mins)
- Parenting Stress Index (PSI), Fourth Edition: Short Form (10 mins)
A Mom Shares Her and Her Son’s Experience Participating in a Fragile X Clinical Trial »
Diane and her son Joshua volunteered for a clinical trial a little over a year ago. In this heartwarming video, his mom shares how their family made the decision to participate, and what the experience has been like so far.
Dr. Elizabeth Berry-Kravis on the Challenges Inherent in a Clinical Trial »
We asked NFXF scientific advisor, doctor, and clinical researcher Dr. Elizabeth Berry-Kravis to comment on the challenges inherent in a clinical trial.
Clinical Trials From Start to Finish (Webinar) »
Sharyn Lincoln and Katherine Pawlowski of Boston Children’s Hospital speaks with us about how clinical research trials work, what it takes to participate, and what happens after the study.
Learn About Clinical Trials »
From ClinicalTrials.gov, maintained by the National Library of Medicine (NLM) at the National Institutes of Health (NIH).
Need More Information?
Our Most Recent Opportunities
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.
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.
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.
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Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...