International Fragile X Premutation Registry logo

International Fragile X Premutation Registry

The International Fragile X Premutation Registry is a HIPAA- and GDPR-compliant registry created to aid researchers in the Fragile X premutation field. 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 and patient advocacy organizations.

Researcher Recruitment Application

You will need to complete the IFXPR Recruitment Application. Please be aware that you will not receive participant data. Instead, the IFXPR team will share your IRB-approved materials with the registrants and they will contact you directly if they are interested in the research opportunity. You must have IRB approval for your project before requesting recruitment support from the registry.

If you have questions, please do not hesitate to reach out to the IFXPR leadership team via Hilary Rosselot at


About the Registry

Who Can Join

age & conditions

Age: 18+

  • Fragile X premutation.
  • Relative without a Fragile X premutation: Applicants that are 18 years or older, related to someone affected by Fragile X, and does not have a Fragile X mutation, are welcome to join the registry. If they are chosen to enroll in the registry, they will be considered a family member control.
Unsure of premutation

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.

Genetic inheritance of the FMR1 gene

Registrant Requirements

Each participant must provide:

  • Consent to participate.
  • 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. They do not have to complete these sections to be enrolled in the registry.

What Happens Next

Registrants 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.)

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, Jonathan Cohen, Ana María Cabal Herrera, Tamaro Hudson, Sonya Sobrian, 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.

Dr. David Hessl
UC Davis Health, MIND Institute logo

David Hessl

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.

Robby Miller headshot
NFXF logo

Robert Miller

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.

Dr. Peter Todd headshot
Michigan Medicine, University of Michigan, logo

Peter Todd

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 headshot
Rush University logo

Deborah Hall

Rush University

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 headshot
Emory University School of Medicine, Department of Human Genetics, logo

Stephanie Sherman

Emory University

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 headshot
RTI International logo

Anne Wheeler

RTI International

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 headshot
RTI International logo

Melissa Raspa

RTI International

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.

Jayne Dixon Weber headshot
NFXF logo

Jayne Dixon-Weber

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.

Sundus Alusi headshot
The Walton Centre logo

Sundus Alusi

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.

Karen Lipworth headshot
Fragile X Association of Australia logo

Karen Lipworth

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.

Jim Grigsby
University of Colorado, Denver, logo

Jim Grigsby

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.

Maureen Leehey
University of Colorado, Denver, logo

Maureen Leehey

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.

Trevor Hawkins
University of Colorado, Denver, logo

Trevor Hawkins

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.

Ana María Cabal Herrera headshot
Universidad Del Valle MACOS, logo

Ana María Cabal Herrera

Congenital Malformations and Dysmorphology (MACOS), Universidad Del Valle

Dr. Ana María Cabal Herrera is a physician from Cali, Colombia. She completed medical school at Universidad del Valle and since then has worked as a research assistant for the research group on Congenital Malformations and Dysmorphology (MACOS) led by Dr. Wilmar Saldarriaga, and worked as a volunteer for the Colombian Association of Fragile X Syndrome (Asociación X Frágil Colombia). She completed the International Training Program on Neurodevelopmental Disabilities (ITPND) at the UC Davis MIND Institute with Dr. Randi J. Hagerman as her primary mentor.

Dr. Jonathan Cohen headshot
Fragile X Alliance inc. logo

Jonathan Cohen

Fragile X Alliance Inc.

Dr. Jonathan Cohen is a parent and medical practitioner in private practice in Melbourne, Australia. He holds a master’s in family medicine and is an adjunct senior research fellow with the Centre for Developmental Disability Health (Victoria), Monash University Department of General Practice. He is the medical director of the Fragile X Alliance Clinic, Genetic Clinics, Australia. He is involved with numerous research projects, author of multiple articles for medical, allied health journals, and the lay press, and presents regularly throughout Australasia on fragile X syndrome.

Tamaro Hudson headshot
Howard University logo

Tamaro Hudson

Howard University 

Tamaro S. Hudson, Ph.D., M.P.H., is an assistant professor of pharmacology at Howard University College of Medicine. He received his training from Iowa State University, Ohio State University, George Washington University, and the National Cancer Institute/NIH.

Dr. Hudson is a molecular pharmacologist with expertise in cancer, natural products, molecular biology, and pharmacogenetics. He has integrated his research focus by identifying novel signature biomarkers with the evaluation of new chemopreventive cancer strategies, which have been evaluated in Phase I and Phase II clinical trials. His expertise in cancer-related processes, specifically mitochondrial health, which is critical in neurodegenerative diseases, has allowed him to transfer these skills to FXTAS. Currently, his lab assesses the biological activity of natural compounds on mitochondrial health in FXTAS. His research interests continue to expand in order to build collaborations across broad disciplines.

Dr. Hudson has served on the board of the Maryland Fragile X Resource group, which focuses on uniting families challenged with Fragile X. His personal experience with this syndrome and current research interest in FXTAS create a unique opportunity to assist with the development of the International Fragile X Premutation Registry.

Sonya Sobrian headshot
Howard University logo

Sonya Sobrian

Howard University 

Sonya K. Sobrian, Ph.D.,  is an associate professor of pharmacology at Howard University College of Medicine. She received her training from St. John’s University (NYC), the University of Ottawa, and Carleton University (Ottawa, Ontario, Canada).

Dr. Sobrian is a neurobehavioral pharmacologist with expertise in developmental and reproductive toxicology. As director of the developmental behavioral pharmacology laboratory, her major research focus is the behavioral, immunological, and neurotoxicological consequences across the life span of prenatal and neonatal environmental manipulations, and sex-related differences in disease etiology.

Dr. Sobrian has served as director of the Behavioral Neuroscience Program at the National Science Foundation and her experience on scientific federal review panels spans 40 years. Although her interest in the FXTAS is recent, she recognizes the potential of the International Fragile X Premutation Registry to facilitate new clinical research. Dr. Sobrian will add her expertise in animal modeling and evaluation of behavioral domains to assessing compounds for their mitigating effects on the motoric, cognitive, and affective aspects of FXTAS behavioral phenotypes.

Hilary Rosselot headshot
NFXF logo

Hilary Rosselot

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.

Frequently Asked Questions

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.

Premutation carriers who have been diagnosed with or have symptoms of FXTAS or FXPOI, as well as carriers without these problems are invited to participate.

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.

Please complete the IFXPR recruitment application. Once approved, the IFXPR team will share your IRB-approved materials with the registrants and they will contact you directly if they are interested in the research opportunity. You must have IRB approval for your project prior to requesting recruitment support from the registry.

Watch & Learn


Project leader Dr. David Hessl introduces the International Fragile X Premutation Registry and its importance for the Fragile X community.


Dr. David Hessl
Director, International Fragile X Premutation Registry
Professor, Department of Psychiatry and Behavioral Sciences
UC Davis MIND Institute | University of California, Davis


Hosted by Drs. David Hessl and Randi Hagerman, Scott Lorigan discusses his own experiences as a premutation carrier, including the importance of clinical research and the unique, valuable partnership that can develop between families and researchers in the pursuit of new discoveries.


Dr. David Hessl
Director, International Fragile X Premutation Registry
Professor, Department of Psychiatry and Behavioral Sciences
UC Davis MIND Institute | University of California, Davis

Dr. Randi Hagerman
Medical Director, UC Davis MIND Institute | University of California, Davis

Dr. David Hessl: Hi, I’m Dr. David Hessl and I’m the director of the International Fragile X Premutation Registry and I’m really excited to talk to Dr. Randi Hagerman today and our guest Scott Lorigan, who is a carrier of the Fragile X premutation, and we’re going to be talking about the registry. But first getting to know Scott a little bit.

I know Dr. Hagerman and Mr. Lorigan have known each other for a long time, but I don’t know him quite as well, so this is Scott Lorigan and we’ll be asking you some questions about your experience and also talking about the registry today.

Thanks a lot for coming, Scott.

Scott Lorigan: My pleasure.

Dr. Hessl: Great, okay so one of the first questions I thought would be good to talk to you about is … how did you hear about Fragile X in your family? How did you find out that you guys were affected by it?

Scott: My grandson, who was four at the time, had some developmental delays and the regional center put him through some evaluations and ultimately recommended a blood work-up be done, which showed that he had Fragile X. So that was our first exposure … to the Fragile X issue.

Shortly after he was tested then, it was recommended that the whole family be tested, and so we did that. So that would have been myself, my wife, and both daughters, and it turned out everybody but my wife was a carrier — she thought for sure it was her … but it wasn’t.

So then we were all tested and at that point FXTAS was not in … the consciousness so … we just kind of took precautions as we could. My oldest daughter already had our grandson, and my youngest daughter decided to do in vitro … to avoid the chance of passing … it along, and that worked out great. Her her daughters are now going to turn 18 and they’re symptom-free so … that’s good.

Dr. Hessl: Thanks for sharing all that background with us, it’s good to hear that and understand where this started for you.

So I heard … just earlier we were talking and you said that … you used to host … barbecues or picnics for the families in Northern California and … I was really intrigued by your story about talking to Sebastian and maybe you could tell us about that.

Scott: Well, we were … I think you came to that …

Dr. Hagerman: Yeah, there were great parties!

Scott: … and there were about 50 people there and Sebastian … he and I were just talking … he said “Oh, you know Randi has kind of discovered … a pattern with older males that have some symptoms …,” and he described them as tremors and balance and so forth, and … I was interested, but I didn’t really grasp the consequences of that, and sure enough, within about two months I started having … tremors. And then I thought back and said, well … I should have paid more attention to Sebastian because he gave me a clue as to what was going on!

So shortly after that, I started having symptoms. Then I was tested and … discovered that I had FXTAS as well, so it’s … been … I think I was 58 when that was discovered, and … it’s been a pretty slow progression.

Dr. Hessl: Okay.

Scott: But as I understand it, … the progression will continue and it will continue to be more severe … as time goes on. So … I appreciate … the — what — 20 plus years that I’ve had … relatively minor symptoms and I’m looking forward to the studies that are coming up in the clinical trials with a hope that they may minimize some of the symptoms … that I’m encountering.

Dr. Hessl: Mm-hmm, so Dr. Hagerman — Randi — I refer to you as Randi … maybe, would you like to say a few things about … the kinds of trials that have been done and maybe what is coming down the line?

Dr. Hagerman: Absolutely … absolutely, the more research and clinical trials on FXTAS patients the better. We’ve done a study, a controlled trial, of memantine,  which was not helpful for the tremor and balance problems, but helped a little bit with processing information in the event-related potential outcome measures that we had.

And we also did an allopregnanolone study, which was an IV treatment that Scott participated in and, you might talk about … your experiences with that, but I think … that the registry will help us identify more individuals who are affected by FXTAS and that will push more research at additional centers throughout our country, and the world. But, tell us … your experiences with the allopregnanolone study.

Scott: You know, I had never done a clinical trial before when it was first offered. I thought what do I have to lose … at this point? It was … two hours, three hours … where I got to sit back, watch a movie, and … talk to nice people. And the infusion wasn’t the problem, what I was amazed at is, after the first infusion, my motor skills — like walking up steps and so forth — improved almost immediately. So after leaving the clinic I was able to much more easily go up and down steps without assistance. It took a little longer for the tremors — the intentional tremors and the head tremors — to be affected, and a little longer even there for the motor skills, to be able to write, but I was really surprised within a relatively — I think there were 12 infusions … — after the first three, the symptoms were very minimal. So I wish that the manufacturer would have decided to go ahead with that because, at least for me, it made a tremendous difference. So I’m looking forward to any other clinical trials that come up, as long as I can get here and swallow the pills I’m for it.

Dr. Hagerman: And your neuropathy — how was that affected by the allopregnanolone?

Scott: Well, it was minimized. It didn’t go away totally … but it’s only in my feet so I haven’t noticed it in my … other extremities so … it was better and now, since I’m not taking anything … it has returned. It’s not painful, it’s just a certain numbness in my feet.

Dr. Hagerman: So yeah … we’re very excited. We hope we get funded for an oral allopregnanolone study that we’ll do with a company called PureTech who’ve developed an oral formulation, and I think that could be helpful so we’re excited about that in the future.

Dr. Hessl: That’s really good, and I think with the registry … we want to try to bring in investigators to the field from other places, other universities who have other ideas about interventions, and by having a registry with … a big group of carriers who are interested in participating in trials or other research … we’re hoping to bring in more investigators too into the field … but the whole concept … is just to develop a group of carriers who are interested in participating in research so that when there is a trial to do, we’re ready to go … that if it’s a pharmaceutical company that has a possible intervention or … an investigator who has an option they want to try, that there’s … people who we can send notice to [those] who are eligible and have them ready to participate in the trials. And … a lot of other neurodegenerative conditions or neurodevelopmental disorders have registries that build a lot of community among families, and connections, and keeps everybody … up to date on what’s happening in the field. So that’s another part of the mission … of the registry, … to keep people connected.

Scott: I’m particularly interested in the registry because, although the MIND Institute has done a wonderful job with the resources that you have, you’re at the mercy of pharmaceutical companies, and I’m thinking that having the wide variety of manufacturers and researchers will make a tremendous difference … maybe not for me, immediately, but in the long term … identifying people early, identifying treatments that can fit their specific needs … I think that only comes with the increased scope of research, and interaction with clients and I would encourage anybody who’s got the FXTAS and FX symptoms to join the registry and get ready to see improvements.

Dr. Hagerman: Absolutely! How hard was the registry to do, I mean a lot of people are a little bit concerned about going on into a registry, but the identifying information can be kept confidential … was it difficult to do …?

Scott: You know, the complexity wasn’t the issue. I, you know, I’ve filled out enough personal information and I trust the … confidentiality here, but … I got about halfway through and then I … because of my motor skills … I was having a little trouble working it out on my iPad, so my oldest daughter came over and helped me fill out the last little bit, but … if you didn’t have motor skill issues, it would have been no big deal, you could do it easily once you get started.

You know, like everything else, it’s taking the first step, and it only took I think about 10 minutes, 10 or 15 minutes, and it wasn’t at all intimidating. It flowed well and I was glad to be able to do it even though I had some help.

Dr. Hagerman: So it’s quick and easy. You’re supporting research. David, do you want to talk a little bit about confidentiality too?

Dr. Hessl: I can talk about that, and before I do, I just wanted to mention one other thing, which is really important.

The registry is not only for premutation carriers, but also for family members who don’t have the premutation. So, in research, not so much for the clinical trials, but for other research studies, it’s really important to have a comparison group of people to study different topics. So having family members who don’t have the permutation is very important as well. So don’t forget about your family members, and encouraging them also.

But in terms of confidentiality, the data is encrypted, which means that it’s all kind of scrambled up and kept private when it’s transmitted from your computer to the database, which is housed in a program called REDcap, which is a very widely used data structure database system, used at a lot of universities around the world, so we’re using that system and we … separate out … all of the … personal identifying information from all of the clinical or … demographic information that people will be providing. So it’s very … safe and confidential and of course the institutional review board here at UC Davis has reviewed it, and the Fragile X Foundation — I should mention, which is also our partner — has reviewed it and is comfortable with the process too.

So … if you’re interested and motivated to sign up for the registry, please go to the website at the National Fragile X Foundation, which has a link for you to sign up right now. It’s in English, but we’re quickly moving to a Spanish translation version of the registry, and then of course it’s international, so we’re going to be … building that out and including other languages as well.

So I think we’ll stop there, and I want to thank Scott for coming to talk to us today. It’s been great to get to know you and thanks for all your supportive words …. And also Randi, my mentor for so many years, for joining us.

Dr. Hagerman: It’s great. So please sign up. You will help research and we will work together to find better and better treatments for FXTAS and also for Fragile X syndrome, even though those with the full mutation are not included in this registry — but there are other registries for those with the full mutation, including the FORWARD study.

Thank you very much.

I’m Definitely Interested! →


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.

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Hilary Rosselot, Director of Research Facilitation | (202) 747-6208

Last Updated: 11/09/2021