Dr. Lawrence T. Reiter, a researcher from the University of Tennessee Health Science Center, is conducting a research study to learn about the molecular changes that occur in neurons in individuals with autism.
Participation
Who can participate?
Any individual with a confirmed clinical genetic diagnosis of Fragile X syndrome who is losing baby teeth or having a tooth extracted for dental purposes may be eligible to participate. There is no formal age limit to participation. Your child does not need to have an autism diagnosis to participate. You will need to show a copy of a genetics report that says your child has FXS.
What will happen in the study?
You will be asked to provide your child’s genetic testing to confirm their Fragile X syndrome diagnosis.
If your child qualifies and you decide to participate in this research study, you will only need to request a collection kit. This kit includes the consent form, social communication questionnaire (SCQ), tube of media, and a return kit with free FedEx shipping included. The investigator will need your mailing address to send the kit. You do not need to travel for this study.
You will be asked to complete the social communication questionnaire and provide any previous autism diagnostic testing, if available in your child’s medical record. You will be asked to collect the tooth when it falls out or is extracted at the dentist. Using the provided return kit, you will package the tooth and forms and return via FedEx within 48 hours of the tooth exiting your child’s mouth.
What are the good things that can happen from this research?
Your child’s tooth will be made into neurons in Dr. Reiter’s laboratory. The neurons can be used for RNA sequencing and protein studies. These studies may reveal changes in neurons from individuals with Fragile X syndrome vs. other forms of autism. These studies could lead to better understanding the impact of the FMR1 protein and how to treat Fragile X.
What are the bad things that can happen from this research?
There are no physical risks to participation. There is risk of loss of confidentiality, including your child’s personal health information (PHI) and/or social communication questionnaire results. Safeguards are in place to ensure that no personal health information will be associated with the neurons made from your child’s tooth. Only diagnosis (i.e., FXS) and score on the social communication questionnaire will be associated with the de-identified neurons.
There may be other risks that we do not know about yet.
Will you/your child be paid to complete this survey?
Participants may receive up to $10 for the contribution of their tooth/teeth. The participant will not receive more than $10 for their participation.
Our Most Recent Opportunities
PIXI Study: Parent-Infant Fragile X Intervention
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. Babies 0–9 months old with the full mutation, and their caregivers, may be eligible to participate.
Study: Our Fragile X World Registry
Our Fragile X World collects data from families using online surveys and in-person studies. Topics covered include sensory or behavioral challenges, health care experiences, and the impact of Fragile X on families.
Study: Cognition, Balance, and Walking Patterns in Males With a Premutation
Doctors at Rush University are researching cognition, balance, and walking patterns in people who carry a premutation in the Fragile X (FMR1) gene.
Fragile X Premutation Carrier Study at USC
The University of South Carolina is conducting a research study focusing on the range of language, social, and cognitive features that may be associated with variations on the FMR1 gene. Women age 35-75 who are carriers of the Fragile X premutation may be eligible to participate.
Study to Learn About the Cognitive Profile of Children with a Full Mutation of Fragile X
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.
Parent Survey: Children’s Behavioral Strengths and Challenges
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.
