The National Fragile X Foundation (NFXF) has launched the International Fragile X Premutation Registry to assist and encourage research into conditions caused by so-called premutations in the gene associated with fragile X syndrome.
Created with an advisory committee of fragile X professionals, the registry has now been inaugurated in the U.S., with an international launch planned for 2021.
Fragile X syndrome occurs when three nucleotides — the chemical building blocks of DNA — are excessively repeated in the FMR1 gene. Specifically, people with fragile X have repeats of one cytosine and two guanines.
In cases in which there is a full mutation, meaning more than 200 repeats of these nucleotides, FMR1 is shut down, resulting in no production of the FMRP protein needed for healthy brain development.
In turn, people with premutations have between 55 and 200 such repeats, which is associated with fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers also have a greater risk of their children developing fragile X.
FXPOI affects women’s reproductive health, reducing ovary function, and can cause infertility and early menopause. A late-onset disorder, FXTAS typically affects males and is characterized by motor and cognitive impairments.
The exact frequency of these disorders is not known. Estimates in the U.S. range from between one in 148 to one in 291 females, and one in 290 to one in 855 males.
Most fragile X-associated disorders can be difficult to diagnose, given their rarity and the range of symptom severity.
Led by David Hessl, PhD, a professor at the UC Davis MIND Institute, the premutation registry aims to help build a global community among researchers, clinicians, and fragile x carriers and their family members.
The registry will seek to gather both people who intend to contribute to research and participants for clinical trials. One key goal is to better understand the link between these premutations and human health.
The NFXF encourages both premutation carriers and non-carrier family members, who can serve as family member controls, to enroll.
Those taking part will receive annual updates on research developments and will be alerted about studies in which they may be eligible to participate. Studies benefitting from the registry may cover any type of intervention that might improve the lives of premutation carriers, both those related to medications and otherwise.
Enrollment is open to people 18 and older. Registrants will be asked to provide contact and demographic information, as well as some limited medical history. Optional sections will ask for more detailed demographic and health-related information.
The NFXF maintains a more complete set of FAQs with contact information for the registry team. Please go here for additional information.
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