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 UNC in Chapel Hill logosRTI 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:
    1. At enrollment
    2. Age 3
    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:

Child Assessments:

  • 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)


The benefits to you and your child from being in this study may be learning more about the developmental skills of your child.

To the best of our knowledge, the things your child will be asked to do in this study have no more risk of harm than your child would experience in everyday life (e.g., an evaluation at school).

There is a risk that your child may get frustrated if they have difficulty with an activity. Your child will be offered breaks, rewards, and encouragement throughout the visit. Our research team has extensive training and experience with young children with Fragile X and other disabilities and will be quite sensitive to their needs. You may stay with your child at all times and may stop testing at any time you wish (for example, if you feel your child is getting tired).

Some of the questions asked about you may make you feel uncomfortable because they ask about a variety of personal topics such as your sources of support and sense of well-being. If you don’t wish to answer a question, in most cases you can skip the question and go on the next one.

As with any research study that stores information on computers, there is always a risk that confidentiality may be breached. However, we want to assure you that we make every effort to keep the information you give us secure.

There may be other risks that we do not know about yet.


[Note: NFXF general guidelines advise no social media, approvals are on a case-by-case basis.]

Participants receive $50 after each visit.


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.

Outside Resources:

Learn About Clinical Trials »
From, maintained by the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

Need More Information?

Review our clinical trial FAQs & Resources to help you with your decision to participate, or reach out to us to answer any additional questions.

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