International Fragile X Premutation Registry
The International Fragile X Premutation Registry was created to facilitate and encourage Fragile X premutation research, including future medication and non-medication treatment and intervention studies that could positively impact your quality of life. Fragile X premutation-associated conditions include Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
The project was created in partnership with an international advisory committee of dedicated Fragile X professionals from some of the world’s most respected institutions. Below you’ll learn more about this amazing team, as well as how you and your family can participate.
About the Registry
Who Can Join
age & conditions
- Fragile X premutation carrier.
- Relative without a Fragile X premutation: If you are 18 years or older, related to someone affected by Fragile X and you do not have a Fragile X mutation, you are welcome to join the registry. If you choose to enroll in the registry, you will be considered a family member control. Examples of a family member control include spouses, in-laws, siblings, or a son or daughter.
Not sure if you’re a carrier?
Individuals who may or may not be carriers — as reflected by known inheritance patterns, e.g., parent is a carrier — can enroll and designate that they have not yet been tested.
What You’ll Need to Register
If you decide you’d like to participate, we’ll need:
- Your consent to participate.
- Your completed online form, which includes contact information, demographics, and some limited medical history.
The form includes two additional optional sections that ask more detailed demographic and health-related questions. You do not have to complete these sections to be enrolled in the registry.
What Happens Next
As a registrant, you are ultimately connected to a large international network of researchers and research teams studying the Fragile X premutation, and will be provided with yearly updates about research developments in the field.
Registrants may also be contacted by the registry team about research studies they may be eligible to participate in, including future treatment studies. (The NFXF will not have access to your private, personal information.)
Continue reading our FAQs below, or begin your enrollment now.
If you have questions, concerns, or complaints, please contact one of our team members listed here:
Frequently Asked Questions
There are four categories of FAQs: About the Registry | Your Participation | Security | Enrolling
About the Registry
A registry is not considered research. A registry is a contact list that can be used to help support research.
Even though our registry is not considered research, we do ask that you provide consent to participate in the registry.
Clinicians, researchers, and family representatives from around the world have partnered with the NFXF to create an international premutation research registry.
Registrants are asked to provide contact, demographic, and basic medical information related to the premutation so they can be invited to participate in future research projects. Additional health questions may be asked, but are optional.
The purpose is to establish and maintain an online research participation registry for adults with the fragile X premutation and family members who do not have a fragile X mutation.
A registry that includes a large and diverse group of individuals with the fragile X premutation (as well as family members without the premutation) will greatly facilitate research, including future treatment and intervention studies. Note that research is not restricted to medications, and includes any interventions that could positively impact your quality of life.
An advisory committee comprised of international fragile X professionals have come together to champion the International Fragile X Premutation Registry. Registry efforts are being led by David Hessl of the UC Davis MIND Institute and Robert Miller and Hilary Rosselot from NFXF.
The international launch is scheduled for 2021. The registry team is continuing to build international relationships with advisors. Launching in the U.S. first helps the team adjust the registry to be as helpful as possible, and provides the time needed to translate the registry into other languages.
If you are interested in helping with translation of the registry or launching the registry in your country, please reach out to Robert Miller at email@example.com.
We expect that you will be in this research registry for many years, perhaps decades, as it grows over time. You’ll receive at least yearly updates about the registry and developments in the field, as well as reminders to update your registry information.
Eventually, we expect thousands of people will enroll in the registry internationally.
If you have questions, concerns, complaints, or think the registry participation has hurt you, please contact one of the following:
- David Hessl, Registry Lead, UC Davis MIND Institute | firstname.lastname@example.org | (916) 703-0249
- Jessica Famula, UC Davis | email@example.com | (916) 703-0470
- Hilary Rosselot, National Fragile X Foundation | firstname.lastname@example.org | (202) 747-6207
- Robert Miller, National Fragile X Foundation | email@example.com | (202) 747-6207
Additionally, if you want to talk to someone besides the registry team, have questions about your rights as a registrant, want to get information or provide input about this registry, or you can’t reach the registry team, this registry plan has been reviewed by an institutional review board, and you may contact an IRB staff member at:
Once you enroll in the registry, you will be contacted yearly by email or phone to update your information as it changes over time.
You may decide not to take part in the registry and it will not be held against you. You will still be eligible to participate in research studies, including treatment studies, however, it may be more difficult for researchers to contact you.
If you choose to enroll in the registry, you’ll be asked to enter information about yourself into a database, which is housed on a secure, HIPAA-compliant data system hosted by UC Davis (for more information, see the FAQs below under Security).
The information you’ll need to enter includes your name and contact information, the name and contact information of someone else who may be able to help the team locate you (e.g., if you move and we cannot find you), demographic information such as your race and ethnicity, details of your fragile X DNA test results (if available), and your interest in sharing biological samples (e.g., blood, saliva) in future research. You’ll also have the opportunity to provide details about any symptoms you may be experiencing.
The registry also asks for information such as your birth date, birth name, and where you were born. While it’s not required that you provide these details, if you do, the information will be used to create what is known as a GUID — Global Unique Identifier — for you.
A GUID is a universal participant ID allowing researchers to share data specific to a study participant and match participants across labs and research data repositories — without exposing personally identifiable information.
We want to emphasize that all personally identifying information (e.g., name, date of birth, address, email) is stored separately from the other data and is only accessible to the registry director and coordinator. It is not shared.
You can leave the registry at any time and it will not be held against you. If you decide to leave the registry and withdraw, you will no longer be notified of research opportunities through the registry.
If you decide to leave the registry, contact the team leader so that they can delete your information from the registry database. You may request to have all of your data deleted or only some of it.
The registry is not designed to benefit you directly. However, it is possible it may be helpful to you. For example, you may benefit from being informed about research progress and potential treatment studies that may be helpful to you in the future, or you may benefit from being informed and connected by the network of families and scientists concerned about people with the Fragile X premutation. You may experience satisfaction in contributing to the broader mission to improve the lives of and find effective treatments for people with the premutation. However, we cannot promise any direct benefits to you or others from your taking part in this registry.
The main risk for participating in this registry is that the information you provide could be mistakenly shared or stolen. This is a privacy risk. There are many safeguards in place to prevent this from happening, such as use of an encrypted database (where your information is scrambled), access limited only to the registry team, and ongoing staff training regarding data privacy and security. There may be other risks we do not know about. (For more information, see the FAQs below under Security.)
Yes! If you are a related to someone affected by Fragile X and you do not have a Fragile X mutation, you are welcome to join the registry. This invitation applies to you if you have a normal FMR1 test result or are presumed to have inherited a normal X chromosome.
If you choose to enroll in the registry, you will be considered a family member control. Examples of a family member control include spouses, in-laws, siblings, or a son or daughter age 18 or older. Your participation as family member control is extremely important, as researchers need individuals without the premutation as a comparison group to understand potential effects on health that are specific to the premutation.
No. The choice whether or not to participate in this project is completely voluntary and will not affect your medical care in any way.
Yes, the person in charge of the registry or the sponsor can remove you from the registry without your approval.
Possible reasons for removal include:
- You are not 18 years of age or older.
- You are not a member of a family affected by fragile X.
We will tell you about any new information that may affect your health, welfare, or choice to stay in the registry.
Once you are enrolled in the registry, researchers may wish to notify you of studies for which you may be able to participate. They will not be able to contact you directly. Rather, they will notify the registry team: an experienced committee of experts and Fragile X family representatives review the planned research and determine its appropriateness for registrant participation.
After approval the registry team sends you details about the study and you can decide whether to contact the researchers. The registry team may periodically update you by email or through social media about new or ongoing studies that may interest you.
The MIND Institute and NFXF are in charge of the International Fragile X Premutation Registry, which lives online in a secure database.
Data is managed and stored within the REDCap (Research Electronic Data Capture) system. REDCap servers are housed in a cloud data center at Amazon Web Services (AWS) and all web-based information transmission is encrypted.
REDCap was developed specifically around the HIPAA Security Rule. REDCap has been disseminated for use locally at other institutions and currently supports 4,402 academic/non-profit consortium partners in 138 countries and over 1.4 million research end-users.
The Biomedical Informatics program of the UC Davis Clinical and Translational Science Center has a specific location for the REDCap system management at UC Davis. Your data may be used for future unspecified research. Registry data may be transferred to one or more alternative investigators/institutions in the event the MIND Institute or NFXF is no longer able to serve as managers of the registry. If transfer should occur, all registry participants will be notified and given the option to remove their data from the registry.
International Fragile X Premutation Registry data is only accessible to the registry team. No personal data is shared with anyone outside the study team. NFXF will not have access to your personal data.
Yes, unless you consent to being contacted directly by researchers.
Many countries do not prohibit or regulate an individual’s participation in online medical registries. However, we encourage registry participants who have concerns to check with their medical provider before completing the registry survey. Registry staff will attempt to work with medical professionals in your country to ensure that participation in the registry is allowed.
If you or your doctor are unsure about your right to participate, please contact Robert Miller at firstname.lastname@example.org for assistance.
This registry conforms to the General Data Protection Regulation (GDPR) which was established for people living in a State that belongs to the European Union (EU) or in the European Economic Area (EEA). To the best of our knowledge, the GDPR is the most restrictive set of privacy and protection standards in the world. By adhering to the GDPR, we believe we are providing the maximum protections for citizens of all countries.
The GDPR gives you rights relating to your data, including the right to:
- Access, correct, or withdraw your registry data.
- Restrict the types of activities the team can do with your data.
- Object to using your data for specific types of activities.
- Withdraw your consent to use your data for the purposes outlined in the consent form and in this document. (Please understand that you may withdraw your consent to use new data but data already collected will continue to be used as outlined in the consent document and in this notice.)
If you wish to request any of the above actions regarding your registry data, please contact Jessica Famula at email@example.com or (916) 703-0470, or David Hessl at firstname.lastname@example.org or (916) 703-0249.
The Regents of the University of California, on behalf of UC Davis, is responsible for the use of your data for this registry. If you have questions about this notice, complaints about the use of your data, or if you want to make a request relating to the rights listed above, you can contact UC Davis Privacy Officer Sharalyn Rasmussen by phone at (916) 734-8808 or by email at email@example.com.
Completing the registry survey should take no longer than 30 minutes. If you have any difficulty entering your information, you’ll be able to contact registry staff for assistance.
Enrollment is all online! If you’re interested in enrolling In the International Fragile X Premutation Registry, you can click on any of the ENROLL NOW buttons on this page to be directed to the secure website.
The ENROLL NOW button and links take you to the REDCap database landing page. This ensures that your protected health information is directly entered and stored in a HIPPA-compliant database. NFXF hosts this webpage — the one you’re reading now — to inform and recruit potential participants. However, the NFXF does not see or store any information. Instead, this NFXF webpage acts as a facilitator to connect eligible participants directly to the REDCap database.
The MIND Institute and other clinicians/researchers in the Fragile X community are able to refer eligible participants to the NFXF website for enrollment, furthering the reach of the International Fragile X Premutation Registry.
About the International Fragile X Premutation Registry Team
Thank you to the members of the International Fragile X Premutation Registry Advisory Committee. These individuals continue to dedicate their time and expertise to this important effort: David Hessl, Robert Miller, Peter Todd, Deborah Hall, Stephanie Sherman, Anne Wheeler, Melissa Raspa, Jayne Dixon-Weber, Sundus Alusi, Karen Lipworth, Jim Grigsby, Maureen Leehey, Trevor Hawkins, and Hilary Rosselot.
Registry efforts are being led by David Hessl of the UC Davis MIND Institute, and Robert Miller and Hilary Rosselot of the National Fragile X Foundation.
UC Davis MIND Institute
David Hessl, Ph.D., is a professor in the Department of Psychiatry and Behavioral Sciences at the University of California, Davis, where he is on the faculty of the MIND Institute. He is a licensed clinical psychologist and the head psychologist at the Fragile X Research and Treatment Center at UC Davis, where FXTAS (fragile X-associated tremor/ataxia syndrome) was first discovered and reported in 2001.
Dr. Hessl is director of the Translational Psychophysiology and Assessment Laboratory (T-PAL) at the MIND Institute. T-PAL is primarily devoted to development of novel outcome measures for use in clinical trials for individuals with neurodevelopmental disorders.
Dr. Hessl’s career has focused on fragile X-associated disorders since 1998, having published 114 peer-reviewed journal articles on these topics to date. He is a lead investigator of a program of research, supported by the National Institute of Neurological Diseases and Stroke, focused on neuropsychological and neurological changes in fragile X premutation carriers to determine key risk factors and early signs of neurodegeneration related to FXTAS. This work has also uncovered genetic and brain mechanisms contributing to mental health challenges in premutation carriers, supported by the National Institute of Mental Health. Dr. Hessl serves on the National Fragile X Foundation’s Clinical Trials and Scientific & Clinical Advisory Board committees.
Director of Clinical & International Relations, National Fragile X Foundation
Robert Miller has been working — for nearly five decades — with families who have a child or children with special needs, along with the professionals who work with those children and families. He is particularly interested in how families learn about, access, and receive meaningful information and services from competent professionals, organizations, and institutions. His interests led to co-founding the Fragile X Clinical & Research Consortium. During the past 20 years, he has had the opportunity to assist with the development of fragile X parent support organizations and clinics throughout the world.
He has been associated with the NFXF since 1999 and currently serves as the National Fragile X Foundation’s director of clinic & international relations.
University of Michigan
Peter K. Todd, M.D., Ph.D., is the Bucky and Patti Harris Professor in the Department of Neurology at the University of Michigan Medical School. As a clinician, Dr. Todd co-directs Michigan University’s Multidiscplinary Ataxia Clinic where he sees patients with FXTAS (fragile X-associated tremor/ataxia syndrome), and the Fragile X Syndrome Clinic where he sees adult patients with fragile X syndrome. He also serves as director of the Clinical Neurogenetics Research Program, which aims to improve research and care for patients with inherited neurological disorders.
As a physician scientist, Dr. Todd’s lab studies the mechanisms by which nucleotide repeat expansions cause neurodevelopmental and neurodegenerative disorders with a long-term goal of developing novel therapeutics for currently untreatable conditions. His lab has published extensively on fragile X-associated disorders, such as fragile X syndrome and FXTAS, as well as C9orf72 repeat expansions that cause ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease) and frontotemporal dementia.
In the past decade, Dr. Todd has given over 80 invited presentations across the world and published over 50 papers on his research. He has received several academic awards, including the Alliance S. Weir Mitchell Award from the American Academy of Neurology, the Hagerman Prize from the National Fragile X Foundation, and the Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association (its highest and most prestigious award).
He currently serves on the executive committee of Michigan University’s Center for RNA Biomedicine and is also a member of the Biomedical Research Council. He is a standing member of the Cellular and Molecular Neurodegeneration Study Section at the National Institutes of Health, the research committee at the American Academy of Neurology, and the professional development committee at the American Neurological Association.
Deborah Hall, M.D., Ph.D., is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago. She earned her medical degree from Indiana University and her doctorate from the University of Colorado, where she completed residency and fellowship.
Dr. Hall is director of the FXTAS Clinic at Rush, founder of the Chicago Fragile X Research Group, and works closely with Dr. Elizabeth Berry-Kravis in the fragile X-associated disorders program. She is an endowed chair of the Parkinson’s Foundation, the director of the Movement Disorder Program at Rush University, and a Rush University institutional review board chair.
She has expertise in large epidemiology studies, clinical trials, and human subject’s research. She has been conducting research in FXTAS for over 15 years and has published several phenotype and epidemiological papers related to the disorder. She has participated in 17 R01 (an NIH research project grant program) projects, many related to FXTAS.
Dr. Hall has a clinical practice of movement disorder patients and has a secondary research focus in Huntington’s disease, stem cell transplantation, and clinical trials in Parkinson’s disease.
Stephanie Sherman, Ph.D., currently a Professor Emerita at Emory University, has been involved in research of fragile X-associated disorders for her entire career as a human geneticist.
Dr. Sherman’s early work helped to identify the unique aspects of the inheritance of fragile X syndrome prior to the discovery of the FMR1 gene. Since that time, she has been involved in understanding why the premutation increases the risk for ovarian dysfunction in women and for neurologic problems in both men and women. Her team aims to identify factors that trigger onset of symptoms in some but not all carriers. The ultimate goal is to identify perturbed biological pathways that have the potential to provide new insights into prevention and intervention.
Together with her colleagues, she has had the honor to work with hundreds of families who have been diagnosed with fragile X-associated disorders, and is grateful for this experience. Dr. Sherman has also had the opportunity to work closely with the National Fragile X Foundation’s efforts to promote research, care, and awareness.
Dr. Sherman highly supports the International Fragile X Premutation Registry, which is essential to facilitate and expand new clinical research in this area and will increase collaboration between families and investigators.
Anne Wheeler, Ph.D., is a licensed neurodevelopmental psychologist and senior researcher at RTI International. She is also an adjunct associate professor at the Carolina Institute for Developmental Disabilities in the UNC School of Medicine.
Dr. Wheeler has been involved in research and clinical service for individuals with fragile X syndrome and associated neurogenetic conditions for over 20 years. Her main research interests include health and well-being among individuals with an FMR1 expansion; measurement, predictors, and consequences of specific developmental and behavioral profiles in individuals with developmental disabilities; family and maternal adaptation to genetic syndromes; and the development of strength-based/positive psychology focus in child and family research. She currently leads the follow-up task for Early Check, assuring that all babies identified as having an FMR1 gene expansion receive confirmatory testing, genetic counseling, family support, and developmental surveillance and intervention.
Melissa Raspa, Ph.D., studies early childhood education and development, with a focus on children with intellectual and developmental disabilities and their families. Much of her work has examined the impact of fragile X syndrome on children and families, including the health and social development of individuals with fragile X syndrome and family well-being.
Dr. Raspa began working at RTI International in 2005. She currently serves as principal investigator and co-investigator for two ongoing projects on fragile X syndrome, both funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Dr. Raspa also leads the evaluation of the New York – Mid-Atlantic Consortium for Genetic and Newborn Screening Services and collaborates with partners at the University of North Carolina at Chapel Hill on a technical assistance project that assists states in examining family outcomes of early intervention. She has received RTI’s Highly Published, Career Author, and President’s awards.
Director of Education & Support Services, National Fragile X Foundation
Jayne Dixon-Weber, director of education & support services at the National Fragile X Foundation, has been a member of the NFXF team since 2007. She has two children, an adult son with fragile X syndrome and a daughter who does not carry the condition. Jayne corresponds with people who contact the NFXF, and she provides resources on whatever topic they are seeking. She also creates education and support materials for the NFXF website.
Jayne has been involved in many books on Fragile X and is the author of Transitioning Special Children into Elementary School, editor of Children with Fragile X Syndrome: A Parents’ Guide, co-author of Fragile X Fred, and contributor to the book Perfect Game, which has a character with fragile X syndrome.
The Walton Centre
Dr. Sundus Alusi, MBChB, M.D., FRCP*, is a consultant neurologist at the Walton Centre NHS Foundation Trust, U.K., since 2004. She subspecializes in movement disorders. She has a special interest in tremor, Huntington’s disease, FXTAS, and deep brain stimulation. She has published her research in several peer-reviewed journals. She has been an active co-investigator in ENROLL-HD, the largest international registry study. She is aiming to contribute to the development of the International Fragile X Premutation Registry as a platform for future research into the disease and its treatment.
*MBChB is a bachelor of medicine, bachelor of surgery; FRCP is Fellows of the Royal College of Physicians.
Fragile X Association of Australia
Karen Lipworth is a board member of the Fragile X Association of Australia. She is also a qualified veterinarian, and currently holds the position of technical services lead for the companion animal business unit of MSD Australia & New Zealand. The role involves leading a team to provide technical support for customers and consumers of key brands such as Bravecto and Nobivac vaccines. She works closely with the marketing, sales, and regulatory affairs teams. Prior to moving into the pharmaceutical industry, Dr. Lipworth worked as a veterinarian in small animal practices in the U.K. and Australia.
Dr. Lipworth has the fragile X premutation and is passionate about raising awareness of the premutation and its associated conditions amongst the medical profession.
University of Colorado
Jim Grigsby, Ph.D., is a professor of psychology (Division of Health Care Policy and Research), and a professor of medicine at the University of Colorado.
He graduated from the University of Kansas, University of Regina (formerly the University of Saskatchewan, Regina), and University of Colorado Boulder. Dr. Grigsby’s lab conducts research in the general area of cognitive neuroscience and neuropsychology. He studied the cognitive/neuropsychological phenotype of fragile X syndrome in the 1980s and 90s, and he has focused on FXTAS (fragile X-associated tremor/ataxia syndrome) since 1999. His R01 (an NIH research project grant program) from the National Institute on Neurological Disorders and Stroke, in collaboration with colleagues at the University of California, Davis, was the first to yield data on the neurological, neuropsychological, and neuroimaging phenotypes of FXTAS.
Dr. Grigsby’s current research focuses on people with premutations of the FMR1 gene. Among other topics, he is currently interested in comorbid autoimmune and inflammatory disorders among females with the FMR1 premutation, neuroimaging in FXTAS, and in the gut-brain axis in different fragile X phenotypes.
University of Colorado
Maureen Leehey, M.D., is board certified in neurology and psychiatry and is a fellowship-trained movement disorders specialist. She attended the University of Texas Medical School at Houston and completed her residency and fellowship at the University of Colorado.
Dr. Leehey is the division chief for the Movement Disorders Program at the University of Colorado with over 25 years experience in management of movement disorder patients, which makes her the senior movement disorders specialist in the Rocky Mountain Region. During her time at the University of Colorado, she has managed thousands of patients with Parkinson’s disease.
Dr. Leehey is dedicated to treating people, not diseases. She treats movement disorders in patients with FXTAS (fragile X-associated tremor/ataxia syndrome), Parkinson’s disease, atypical Parkinsonian disorders, essential tremor, dystonia, ataxia, and Huntington’s disease. Her expertise in FXTAS began in the 1990s when she and Dr. Randi Hagerman characterized the neurological and movement disorders findings in FXTAS for the first time. Since then, she has worked with colleagues around the world to advance knowledge of this disorder, including via five NIH-funded studies. Notably, Dr. Leehey developed the FXTAS rating scale, which is now the standard tool used to assess the movement abnormalities in this disorder.
University of Colorado
Trevor Hawkins, M.D., is a board-certified neurologist with subspecialty expertise in movement disorders. He received his medical degree at the University of Toledo College of Medicine. Subsequently, Dr. Hawkins completed his neurology residency and movement disorders fellowship at the University of Colorado Anschutz Medical Campus.
Dr. Hawkins currently see patients at the UCHealth Neurosciences Center, Anschutz Medical Campus in Aurora, Colorado, the Denver VA Medical Center, and is working to develop the movement disorders telehealth network through UCHealth.
Director of Research Facilitation, National Fragile X Foundation
Hilary Roselot joined the NFXF team in 2019 as the director of research facilitation. Hilary focuses on facilitating understanding of and engagement in research, including the facilitation of quality, patient-centric research through NFXF programming like the Research Readiness Program. Her goal is to inspire all families to be excited and knowledgeable about research opportunities!
Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of research studies and clinical trials, and served as the clinical research manager for the Cincinnati program.
I’m Definitely Interested! →
Last Updated: 11/12/2020