Babies 0–12 months old with the full mutation, and their caregivers, are needed for a research study.
RTI International and the University of North Carolina at Chapel Hill are conducting an early intervention study to learn about the best ways to support early development in infants identified with the full mutation of Fragile X.
About the Study
Who Can Participate?
Parents and their babies up to 12 months old, who were diagnosed with the full mutation (prenatal diagnoses included), may be eligible to participate. English must be the primary language spoken in the home.
A limited number of spots in the intervention study are available currently. Interested and eligible participants will be enrolled on a first come, first serve basis. Once the spots have been filled, all other families will be placed on a wait list.
What Will Happen in the Study?
If your family is eligible and decides to participate in the intervention study, over the next 6–9 months, you will participate from home in weekly or bi-weekly virtual visits (approx. 60 min.) with a trained early interventionist. Topics to be covered include education about Fragile X and early development, parent-child activities, and opportunities for discussion about developmental concerns. Technology (if needed) and play materials will be mailed to families. With parent permission, researchers will collaborate with community-based early intervention providers to increase support.
Assessments, which include parent questionnaires, will take place at study entry and approximately every 6 months up to 3 years of age. If possible, these may include developmental assessments with the child at the family’s home.
The following is a list of some of the direct assessments and parent questionnaires that may be completed over the course of the study.
Child Assessments
Only if in-person visit is possible.
- Bayley-3
- PDMS-2
- AOSI /ADOS-2
Parent Report Questionnaires
Questionnaires will be sent a week or so before each visit so that parents have plenty of time to complete.
- Vineland Adaptive Behavior Scales 3
- Sensory Profile-2
- Infant Behavior Questionnaire, Very Short Form
- Neonatal/Pediatric Eating Assessment Questionnaire
- Family Demographics
- Behavior Rating Inventory of Executive Function
- Modified Checklist for Autism in Toddlers
- Parent Satisfaction Survey and Post Intervention Interview
What are the good things that can happen from this research?
The benefits to you, your baby, and your family from being in this study may be learning about the developmental skills of your child and resources for support for yourself, baby, and family.
What are the bad things that can happen from this research?
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).
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. If an in-person assessment takes place, you may stay with your child at all times and may stop the assessment at any time (for example, if you feel your child is getting tired).
Some of the questions asked in the questionnaires 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.
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.
Will you/your child be paid to be in this research study?
Participants will receive a $50 gift card after completion of each assessment visit.
No travel will be required for most participants, if an in-person visit is scheduled, study staff will travel to your home. If you live in or near North Carolina, you may be asked to come to UNC for several assessments and will be reimbursed up to $200 per visit for travel expenses.
Our Most Recent Opportunities
Study: Identifying Translational Sleep Biomarkers in Autism
The Manoach Lab at Massachusetts General Hospital is conducting a research study to explore brain activity during sleep and sensory processing in individuals living with Fragile X syndrome (FXS).
Single-Dose Study for Adult Men with FXS
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.