FORWARD Registry & Database
Fragile X Online Registry With Accessible Research Database
By Amie Milunovich
We live in an era where science is moving at a remarkably fast pace and improving by the day. Behind the science and data are real people, willing to contribute their time and health information for the development of future knowledge. Without their contributions, we cannot understand the full impact of Fragile X syndrome (FXS) in people’s lives, nor how to improve their lives in the future.
Thus, the FORWARD project was born:
Fragile X Online Registry With Accessible Research Database.
The Centers for Disease Control and Prevention provided funding and support to develop FORWARD in partnership with the National Fragile X Foundation. FORWARD has since grown to become a large and invaluable resource for health, clinical, and social support information on people with FXS in the United States.
In the past, scientific advancements helped researchers understand the genetics of FXS; however, there was less information about how this syndrome presents itself throughout a person’s lifetime. Researchers raised questions about health, future treatments, and interventions for individuals with FXS, as well as how the syndrome affects their quality of life and that of their families.
To help answer these questions, researchers needed a better picture of how FXS presents itself across the human lifespan. Information from many people of all different races, ethnicities, and geographic locations across the United States was needed to help fill this informational gap and figure out ways to ease the burden on families.
What is FORWARD?
FORWARD is a registry and a clinical database that allows specialty clinics across the U.S. to work together and gather important information about people of all ages with Fragile X syndrome.
The CDC has awarded a 5-year cooperative agreement (a collaboration between the CDC and multiple other institutions) to expand FORWARD. This award will allow us to build on the foundation of FORWARD in collaboration with CDC’s Study to Explore Early Development (SEED)↗ follow-up study. The studies in this new cooperative agreement will add to and complement the work that has been done in FORWARD and allow acquisition of rich natural history data to inform new intervention studies.
The new project will involve in-person standardized assessments to observe cognition, language, behavior, and autism diagnosis.
The study will also explore the practical, financial, and psychological impact that caring for a family member with Fragile X syndrome has on caregivers and siblings. The project aims to better define the natural history of Fragile X syndrome and determine meaningful outcome measures that will improve the lives of children and adolescents with Fragile X syndrome, and their families.
Beginning September 1, 2021, we will be busy preparing for this next generation of the FORWARD study and determining the best tests and assessments to use for these efforts. There may be up to a year-long pause in FORWARD data collection while clinics, Fragile X syndrome experts, CDC, and SEED investigators all work together to plan the next steps.
Results
FORWARD data can be used in a variety of ways:
- Help inform new treatments and therapies for individuals with FXS.
- Help develop resources to help families, such as the NFXF Treatment Recommendations documents and the Adult eBook.
- Demonstrate the need and direction of future, more in-depth research.
We are excited to share journal publications resulting from FORWARD data, with many more papers currently in development! The future for FXS research is bright as more rich data are gathered.
publications resulting from forward data
Toilet Training in Fragile X Syndrome
Research Summary // FORWARD data on 633 individuals with FXS filled the gap for much needed information on when children with FXS learn bladder and bowel toileting skills.
Opinion Article: Autism Terminology and Clinical Practice
FORWARD // The simplified diagnosis of ASD, which merged previous diagnoses into a single disorder, has led to its use in plural (autism spectrum disorders) for different purposes.
Assessment of Social Interaction in Fragile X Syndrome
FORWARD // An efficient and direct measure of social interactions and autism symptoms is needed for Fragile X syndrome research and clinical care.
Repetitive Behaviors in Fragile X Syndrome
FORWARD // These findings build on the current understanding of RRBs in Fragile X syndrome based on gender and comorbid ASD.
FXS & Language Across the Lifespan
FORWARD // Caregiver reports tended to give lower estimates of language ability than what was found using an objectively administered assessment.
Preventive Care Services in Fragile X Syndrome
Research Summary // About nine out of 10 children and young adults with Fragile X syndrome received the immunizations recommended by CDC between birth and 18 years of age.
Drug Interventions for IAAS in Fragile X Syndrome
Research Summary // A regularly cited group of behaviors in individuals with Fragile X syndrome, particularly males, is irritability, agitation, aggression and self-injurious behaviors.
ASD Diagnosis in Fragile X Syndrome
Research Summary // Intellectual disability and co-occurring mental health conditions can be interpreted as autistic features, making it difficult to diagnose in FXS.
Early Life Language Development in Fragile X Syndrome
Research Summary // This study is one of the first to examine early language development through vocal production and the language learning environment in infants and toddlers with FXS utilizing an automated vocal analysis system.
The Future of Fragile X Syndrome
Research Summary // The present challenge is to move from accurate diagnosis to public health action for FXS, requiring better understanding of the natural history of FXS.
Predictors of Attendance at Fragile X Clinics
Research Summary // Samples showed that children who attended Fragile X clinics were mostly male, high-school aged or younger, and white, non-Hispanic.
Cliniciansʼ Experiences with the Fragile X Clinical and Research Consortium
Research Summary // Suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes.
Importance of Fragile X Specialty Clinics
Research Summary // Appropriate clinical management of affected individuals and their family members have become critical in addressing medical needs to improve quality of life.
Thank You
THANK YOU to all participating families for your willingness to share your life experiences for research. By giving families, doctors, scientific researchers, and policymakers an inside look into how FXS presents itself across the human lifespan, we can facilitate the actions needed to reach more positive health outcomes and an improved quality of life. Your participation in FORWARD will lead to better care and services for future generations affected by FXS.
FORWARD is supported by cooperative agreements #U01DD000231, #U19DD000753 and # U01DD001189, funded by the Centers for Disease Control and Prevention. This content is solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Disease Control and Prevention or the Department of Health and Human Services.
author

Amie Milunovich
Amie joined the NFXF in 2015 and serves as the FORWARD national coordinator. She has eight years of experience coordinating clinical research trials. Amie was a research assistant and research coordinator for numerous clinical trials at several programs. Amie holds a bachelor’s degree in family and consumer science and is a SOCRA certified clinical research professional (CCRP). She enjoys Bikram yoga, painting, cooking, and spending time with family and friends.
Questions?
If you have questions about anything research-related, we’d love to hear from you! You can reach out to Hilary Rosselot directly, or submit your question or comment through our contact form below.

Hilary Rosselot, Director of Research Facilitation
hilary@fragilex.org | (202) 747-6208
Last Updated: 12/31/2020