- Fragile X
- Treatment & Intervention
- Support the NFXF
The Fragile X Clinical & Research Consortium (FXCRC) is a group of clinics and research facilities across the United States that are dedicated to assisting families and individuals who are affected by fragile X syndrome (FXS) or one of the other Fragile X-associated Disorders. Most clinics are part of university and/or hospital settings. There, experts in the field of FXS can offer medical, therapeutic, and educational evaluations, treatment recommendations, and referrals to other important resources. The information gathered from patients and families can help expand knowledge about FXS to guide future treatment.
One of the best ways for families to help their doctors gather this information is to become part of the FORWARD Registry and Database.
Clinical trials (studies involving humans with the actual condition) of new medications for the treatment of Fragile X-associated Disorders (FXD) are currently underway at many sites throughout the U.S. and the world. These trials involve individuals with a FXD, including fragile X syndrome. Typically, these trials are sponsored by a pharmaceutical company seeking to determine the effectiveness of a new drug. Sometimes the studies involve older drugs previously used for treatment of conditions other than Fragile X. Studies typically go through three phases prior to being considered for approval by the government. Phase III studies begin only after effectiveness has been shown to occur in animals and after safety has been proven in individuals without a Fragile X disorder.
To ensure that the effects of the drugs are not influenced by the researchers hopes or expectations, most studies are “double-blind, placebo controlled.” That is, the researcher/clinician, prescribing the drug does not know who is receiving the actual drug and who is receiving a placebo (sugar pill). The parents or the actual participant also does not know. This process is considered the “gold-standard” of medical studies and helps make sure that only truly effective medicines end up as treatments.
Since these are studies only, following the conclusion of the study, in most cases the participants must stop taking the drug. However, in some placebo-controlled studies, all participants are allowed to go on the medication (not placebo) through a so-called “extension.” In this case usually the company is collecting data about long-term safety of the drug and the extension may go on for variable amounts of time, sometimes even until the drug is approved by the government. Should the studies prove that the drug is safe and effective, and once the drug is approved by the U.S. Food and Drug Administration (FDA), the individual may be prescribed the medication by his or her physician.
Not all studies involve drugs. Studies can involve behavior, language development and other important areas of intervention and development. These studies are as important as drug studies and will help doctors, therapists, educators and counselors improve treatments as well as take better advantage of new opportunities that may result from new drugs.
The NFXF also periodically assists with research recruitment through a variety of means including mailings, email blasts and Facebook postings. This is a fee-based service designed to promote the advancement of Fragile X research including on behalf of university-based researchers, pharmaceutical companies, and others who meet our general guidelines, while compensating the NFXF for the associated staff time and materials expense. If you prefer to not receive these notifications please click here.
If you are a family member and have any questions about a specific study, please use the contact information listed on the clinic’s announcement. If you are a professional and have any questions about how the NFXF can assist you with recruitment, please call (800) 688-8765.
Dr. Wendy Machalicek, BCBA-D at the University of Oregon, is recruiting families of boys with FXS, ages two to four years of age, who engage in challenging behavior such as aggression, self-injury or other disruptive behavior, to participate in a study evaluating behavioral interventions to decrease challenging behavior and improve family quality of life. » FULL ARTICLE
You are invited to participate in an online research survey to investigate the journey of fathers, following their child’s Fragile X diagnosis and focusing on their support-seeking behaviors. » FULL ARTICLE
This study examines women’s experiences with Fragile X carrier screening in the United States. The purpose of our research is to determine how women are being offered carrier screening for Fragile X, when they are offered screening and which healthcare professionals are responsible for returning their results. The study entails interviews with women who have undergone Fragile X carrier screening in the last six months. » FULL ARTICLE
Researchers at the University of Alberta's Department of Pediatrics and Stollery Hospital are completing a study looking at memory in children with a neurodevelopmental disorder or typical development. » FULL ARTICLE
Jacqueline Del Fierro, a PhD clinical doctoral student at Walden University (under the advisory of Dr. Jesus Tanguma), is conducting a study about parent’s stress and marital satisfaction experience with children with fragile X syndrome (FXS), due to their shared child care responsibilities. » FULL ARTICLE
The purpose of this study is to explore parent perceptions of clinician-client relationships in speech-language treatment for children. We believe that the development of collaborative working relationships between speech-language pathologists, children receiving treatment, and their parents are important aspects of the treatment process. We are working to develop tools to accurately measure the strength of these relationships. » FULL ARTICLE
Stanford School of Medicine is seeking boys, ages three and ten years, to participate in a study evaluating behavioral treatments for disruptive behaviors. » FULL ARTICLE
If your child is between six and 17 years of age, Georgia State University is interested in studying their walking pattern and bone mineral density. » FULL ARTICLE
The Translational Applied Behavior Analysis Laboratory at Stanford University is seeking boys with FXS to participate in an innovative new research study involving a brief social skills intervention and MRI brain imaging. » FULL ARTICLE
The focus of this research is on understanding how couples communicate about genetic testing in regards to their children and how they decide about future children knowing there is a potential or actual genetic risk. » FULL ARTICLE
Johns Hopkins School of Public Health and the National Human Genome Research Institute invites you to participate in a research study on how parents of people with fragile X syndrome (FXS) experience and make decisions about FXS drug development clinical trials. The goal of this research study is to explore the personal story of parents who have experience with FXS drug development clinical trials. » FULL ARTICLE
Little is known about the early psychosocial and family development of young children with neurodevelopmental disorders. The goal of this study is to partner with families affected by these conditions to better understand children’s individualized strengths and needs. » FULL ARTICLE
If you have a son with fragile X syndrome between 36 and 66 months of age, you and your child are invited to participate in a research study being conducted by Dr. Angela Thurman from the Laboratory on Language Development in Neurodevelopmental Disorders at the MIND Institute University of California, Davis. Study Goals The goal of this study is to learn more about the factors influencing language learning in boys with fragile X syndrome. In the future, it is possible that this information will help us... » FULL ARTICLE
Dear Families, You are invited to take part in a fragile X syndrome (FXS) study for racial and ethnic minority children and families by taking an online survey. The researcher, Georgianna Baker-Gay, is a Public Health doctoral student at Capella University. In partial fulfillment of the requirements for the Degree Doctor of Public Health, the researcher has chosen to examine the needs of FXS racial and ethnic minority children and families. The purpose of the study is to create a racial and ethnic minority Fragile X awareness and education program intended to improve identification and management of FXS... » FULL ARTICLE
Purpose of Study To better understand the emotional experiences and experiences with support systems of mothers who are carriers of fragile X syndrome and have had a child diagnosed in the first three years of life. Determine if there is a change in emotional intensity or a change in the types of support available and utilized by mothers before versus after a child is diagnosed with fragile X syndrome. Determine if there is a correlation between emotional intensity and types of support utilized before and after a child... » FULL ARTICLE