RT Journal Article
SR Electronic
T1 The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 1165
OP 1170
DO 10.1136/jmedgenet-2022-108568
VO 59
IS 12
A1 David Hessl
A1 Hilary Rosselot
A1 Robert Miller
A1 Glenda Espinal
A1 Jessica Famula
A1 Stephanie L Sherman
A1 Peter K Todd
A1 Ana Maria Cabal Herrera
A1 Karen Lipworth
A1 Jonathan Cohen
A1 Deborah A Hall
A1 Maureen Leehey
A1 Jim Grigsby
A1 Jayne Dixon Weber
A1 Sundus Alusi
A1 Anne Wheeler
A1 Melissa Raspa
A1 Tamaro Hudson
A1 Sonya K Sobrian
YR 2022
UL http://jmg.bmj.com/content/59/12/1165.abstract
AB FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional mental and general health conditions that are not yet well-characterised. The International Fragile X Premutation Registry (IFXPR) was developed to facilitate and encourage research to better understand the FMR1 premutation and its impact on human health, to facilitate clinical trial readiness by identifying and characterising diverse cohorts of individuals interested in study participation, and to build community and collaboration among carriers, family members, researchers and clinicians around the world. Here, we describe the development and content of the IFXPR, characterise its first 747 registrants from 32 countries and invite investigators to apply for recruitment support for their project(s). With larger numbers, increased diversity and potentially the future clinical characterisation of registrants, the IFXPR will contribute to a more comprehensive and accurate understanding of the fragile X premutation in human health and support treatment studies.