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).
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This survey will help support families in the Early Check study in NC whose newborns have been diagnosed with Fragile X and inform the design of an early intervention program for these babies.
RTI Int’l and UNC 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.
A survey to measure levels of behavior. When someone with FXS is experiencing anxiety, describe what you see and hear, and how the experience impacts your/their quality of life.