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,13, 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
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.
You can learn more and join the International Fragile X Registry here.
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.
more research results
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
Optimal Time Lags From Causal Prediction Model Help Stratify and Forecast Nervous System Pathology
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
A Human Forebrain Organoid Model of Fragile X Syndrome Exhibits Altered Neurogenesis
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
Featured image by Clker-Free-Vector-Images↗ from Pixabay↗