Authors: David Hessl, Hilary Rosselot, Robert Miller, Glenda Espinal, Jessica Famula, Stephanie L. Sherman, Peter K. Todd, Ana Maria Cabal Herrera, Karen Lipworth, Jonathan Cohen, Deborah A. Hall, Maureen Leehey, Jim Grigsby, Jayne Dixon Weber, Sundus Alusi, Anne Wheeler, Melissa Raspa, Tamaro Hudson, Sonya K. Sobrian
Summary
The International Fragile X Premutation Registry Advisory Committee just published their first publication, “The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.”
People with the FMR1 premutation are at increased risk to develop a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome, FXTAS), reproductive health problems (in females), and potentially a range of other mental and general health conditions. This paper introduces the International Fragile X Premutation Registry (IFXPR), developed to facilitate research to better understand the premutation and its impact on human health, to facilitate clinical trial readiness, and to build community among carriers, family members, researchers, and clinicians around the world. Here, we describe the development and content of the IFXPR, characterize its first 747 registrants from 32 countries, and invite investigators to apply for recruitment support for their projects.
Why This Matters
To date, there has been no registry effort for the Fragile X premutation condition. This registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
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. Treatments are not restricted to medications; they may include any intervention that could positively impact quality of life.
Next Steps
The IFXPR Advisory Committee has identified several future directions. Two future expansions for consideration include further partnerships with Fragile X clinics to validate clinical data and collection of laboratory data like Fragile X testing and other biological measures. These steps would need to be conducted under an IRB-approved study and would help us learn more about risk, progression, and other characteristics of the Fragile X premutation.
Learn more and join the International Fragile X Registry.
FOR MORE DETAILS VISIT:
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness or read the blog on the Journal of Medical Genetics’ website.
Hessl D, Rosselot H, Miller R, et al. The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness Journal of Medical Genetics Published Online First: 14 June 2022. doi: 10.1136/jmedgenet-2022-108568
more research results
Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
Given the limited data regarding future planning specific to individuals with Fragile X Syndrome (FXS) and the growing population of this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans.
Long-Term Follow-Up of Telehealth-Enabled Behavioral Treatment for Challenging Behaviors in Boys with Fragile X Syndrome
This study showed the significant impact that behavioral treatments can have on rates of challenging behaviors commonly exhibited by boys with FXS, particularly when parents are coached to implement the intervention with their child via telehealth.
Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome
Some caregivers and parents of individuals with FXS have given CBD supplements to the individuals they care for and learning about their insights and experiences is important. This was the first study to learn more about their observations and opinions regarding CBD to treat FXS.
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
Most individuals with FXS cannot state themselves that they are anxious and self-report is needed in current standardized assessments. The information analyzed in this study will result in the development of a measure where observable and quantifiable data on anxiety in those with FXS can become an outcome measure to be used in future research/trials.