Fragile X Research | Emory School of Medicine

FORWARD—Fragile X Online Registry With Accessible Research Database

Beginning in 2008 and continuing to the present, the U.S. Centers for Disease Control and Prevention has supported the Fragile X Clinical & Research Consortium (FXCRC) through grants designed to increase our understanding of Fragile X syndrome.

Studies of co-occurring conditions have typically focused on each condition alone by using cross-sectional data, without examining the associations with other features of FXS or without taking a systems approach. In order to conduct well-designed clinical trials that capture the entire spectrum of the disorder, the natural history of those with FXS needs to be determined. This is particularly true for adults with FXS, about whom almost nothing is known regarding life trajectory and medical complications.

FORWARD—Fragile X Online Registry With Accessible Research Database—was implemented in 2012 to fill the recognized gap in knowledge. FORWARD Registry & Database consists of a patient and family registry plus a longitudinal database populated by clinician- and parent-reported data from individuals living with FXS.

One of the best ways for families to help advance our understanding and to improve treatment is to become part of the FORWARD Registry & Database. When visiting the Emory Healthcare Fragile X Clinic you will be provided with information about both and given an opportunity to participate if you are interested.

For more information about FORWARD, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies
Email
404-778-8478

Modifiers of Fragile X-Associated Disorders (FX-MOD) study

We are now enrolling participants in our study called "Modifiers of Fragile X-Associated Disorders (FX-MOD) study." The goal of this study is to discover genes that affect the risk and severity of three fragile X-associated disorders:

FXTAS
FXPOI
Seizures in individuals with FXS

Our goal is to find risk genes that will help identify people with the fragile X mutation who are at risk for these disorders before symptoms occur.

That way, they will be more informed about their health and will have more potential treatments available. Also, we hope the results of this study will help find new avenues for potential treatments.

To learn more about this study, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies
Email
404-778-8478

Modifiers of Seizures in individuals with FXS

Seizure disorders affect about 15% of children with fragile X syndrome (FXS) and can lead to increased severity of symptoms. Our goal is to discover genes that modify the risk of seizures in individuals with FXS.

Study Groups

Group 1: individuals with FXS, who have had at least one seizure
Group 2: males with FXS, with no history of seizures

Study Activities

Medical history
DNA sample for whole genome sequencing (blood or saliva)

To learn more about this study, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies
Email
404-778-8478

Modifiers of FXTAS in individuals with premutation

Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurological disorder that affects about 40% of older men who carry the premutation and some women. Our goal is to discover genes that modify the risk and severity of FXTAS.

Study Groups

Group 1: individuals with premutation, age 50-90, with early symptoms of FXTAS
Group 2: males with premutation who do not have tremor or balance problems

Study Activities

Medical history review
Neurological exam (for a select few)
DNA sample for whole genome sequencing (blood or saliva)

To learn more about this study, please contact:

Lisa Shubeck
Email
404-778-8478

Modifiers of FXPOI in women a premutation

Fragile X-associated primary ovarian insufficiency (FXPOI) leads to reduced ovarian function and sub-fertility. It affects about 20% of women with the premutation. Our goal is to discover genes that modify the risk and severity of FXPOI.

Study Groups

Group 1: females with premutation with early symptoms of FXPOI
Group 2: females with premutation without symptoms of FXPOI

Study Activities

Medical history review
DNA sample for whole genome sequencing (blood or saliva)
Health and well-being questionnaires

To learn more about this study, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies
Email
404-778-8478

Fragile X-associated Primary Ovarian Insufficiency (FXPOI): elucidating environmental risk factors

Funded through the Emory NIH-funded HERCULES Exposome Research Center

This project focuses on identifying environmental risk factors associated with fragile X-associated primary ovarian insufficiency (FXPOI). FXPOI, cessation of menses before the age of 40, occurs in ~20-30% of women who carry a premutation (PM) form (55-200 CGG repeats) of the FMR1 gene. Why only some women with a PM suffer from ovarian dysfunction and others do not is unknown. To better understand this, we are conducting surveys on residential and occupational history and performing metabolomic analyses to identify environmental factors for age at menopause (AAM) in PM women. Identifying environmental risk factors or metabolites associated with AAM may lead to novel strategies for early detection, prevention, and treatment. By improving our ability to identify which women with a PM are at greatest risk for FXPOI, we have the potential of enabling these women to better meet their family planning goals.

To learn more about this study, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies
Email
404-778-8478

Hercules Exposome Research Center