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.

Elizabeth Berry-Kravis webinar Aging in Fragile X Syndrome

NOTE: You will be asked to submit your name and email address.

Aging in Fragile X Syndrome

Dr. Elizabeth Berry-Kravis, FORWARD principal investigator, discusses the value of the FORWARD database for understanding problems that face adults living with Fragile X syndrome.

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 FXS. FORWARD contains two components:

  • Registry: The Registry enrolls all family members in a Fragile X family.
  • Database: The Database includes in-depth information about individuals with FXS. In the database, data are collected from each individual over many years in order to understand the medical, social, and behavioral changes individuals with FXS may experience from infancy to late adult life. The information is collected on structured forms from parents and the clinicians who provide care for individuals with FXS. The data are de-identified, which means that the information submitted to the FORWARD centralized repository does not contain identifying information about the participant.

Enrollment

step one — the fragile x clinic
Prior to 2020, individuals could only be enrolled in FORWARD by visiting a Fragile X specialty clinic. For adults 21 and older (with full mutation FXS), you may now request a virtual telehealth visit.

Please keep in mind that a virtual research visit will be different from an in-person clinic visit. (Read more and inquire about participation below.)

Candidates are informed of the study details during their clinic visit. If you do consent to participate, your de-identified data will be shared for research purposes.

FIND A FRAGILE X CLINIC
step two — the registry

Registry participation requires completion of a short, one-time form, which has the potential to connect researchers to the prospective clinical study candidate.

All family members may be eligible to participate:

  • Full mutation.
  • Premutation (with or without symptoms).
  • Non-carrier.
step three — the database

Only participants who have FXS are invited to join the FORWARD Database.

Before or during the first clinic visit, a parent or caregiver will be asked to complete several questionnaires related to the participant’s health and behavior.

Subsequent visits occur annually, either virtually or in person. At these visits, the parent or caregiver will be asked for updates about the participant’s health information.

step one — the fragile x clinic
Prior to 2020, individuals could only be enrolled in FORWARD by visiting a Fragile X specialty clinic. For adults 21 and older (with full mutation FXS), you may now request a virtual telehealth visit.

Please keep in mind that a virtual research visit will be different from an in-person clinic visit. (Read more and inquire about participation below.)

Candidates are informed of the study details during their clinic visit. If you do consent to participate, your de-identified data will be shared for research purposes.

FIND A FRAGILE X CLINIC
step two — the registry

Registry participation requires completion of a short, one-time form, which has the potential to connect researchers to the prospective clinical study candidate.

All family members may be eligible to participate:

  • Full mutation.
  • Premutation (with or without symptoms).
  • Non-carrier.
step three — the database

Only participants who have FXS are invited to join the FORWARD Database.

Before or during the first clinic visit, a parent or caregiver will be asked to complete several questionnaires related to the participant’s health and behavior.

Subsequent visits occur annually, either virtually or in person. At these visits, the parent or caregiver will be asked for updates about the participant’s health information.

Doctor wearing a COVID-19 PPE mask with her hands in her pockets, standing, on a mobile phone screen

Virtual Participation for Adults with FXS!

Families of adults (21 years of age or older) with FXS have the option of participating in FORWARD virtually or over the phone. By enrolling your adult child/family member with FXS in the study, you can share your experiences about access to services as well as specific health, social, and behavioral challenges adults with FXS face.

During a remote research visit for FORWARD, your voice will be heard when you contribute valuable information about your adult child/family member with FXS. Your participation will help improve care and services for adults with FXS.

Please keep in mind that a virtual research visit will be different from an in-person clinic visit: You should not expect to be provided with clinical recommendations. If there are concerns, you could be referred to a Fragile X clinic for a clinical visit to discuss problems and get recommendations from a clinician specializing in FXS.

Connect With Us About Virtual Participation

To be connected to a clinic for virtual FORWARD participation, please contact National Coordinator Amie Milunovich using the form below.

Results

We are excited to share that there have been 17 journal publications resulting from FORWARD data and many more papers currently in development! The future for FXS research is bright as more rich data are gathered.

FORWARD data can be used in a variety of ways:

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
Author Dan Whiting

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.

Hilary Rosselot

Hilary Rosselot,
Director of Research Facilitation
research@fragilex.org
(202) 747-6207

Last Updated: 12/31/2020

Thank you to the image authors: Doctor/mobile phone illustration image by muhammad rizky klinsman from Pixabay.