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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An Alliant International University clinical psychology doctoral candidate is conducting a research study to learn about the cognitive profile of children with a full mutation of Fragile X. Males and transgender females between the age of 8 and 12 may be eligible to participate.
The MIND Group at the University of Minnesota is conducting a survey for parents of children with Fragile X syndrome to learn about how genetic and neurodevelopmental differences impact behavioral strengths and challenges. Parents of 3–17 year old children living with Fragile X are eligible to participate.
Purdue University is conducting a research study to learn about language and social communication development in Fragile X syndrome. Children ages 3–4 years (36–60 months) with the full mutation may be eligible to participate.
The University of Kansas Medical Center is conducting a survey to learn about the medical and mental health care needs of individuals and families affected by Fragile X syndrome, premutation carriers, and undiagnosed family members. Persons 18 years and over may be eligible.
The University of Kansas BRAIN Lab is conducting a research study to learn about behavioral and brain differences associated with premutations of the Fragile X gene, FMR1. Individuals ages 50–80 with the FMR1 gene premutation with or without FXTAS may be eligible to participate.