The International Fragile X Premutation Registry, built to facilitate research into disorders caused by “premutations” in the FMR1 gene, has launched globally and is inviting carriers of these mutations or relatives of fragile X patients to join.
Opened last year in the United States by the UC Davis MIND Institute and the National Fragile X Foundation (NFXF), the registry brings together a global community of scientists and premutation carriers to accelerate research into fragile X-associated conditions.
“The registry was created to facilitate and encourage fragile X premutation research around the world, including future medication and non-medication treatment and intervention studies that could positively impact quality of life,” Linda Sorensen, executive director of the NFXF, said in a press release.
Fragile X arises when, in the FMR1 gene, three consecutive nucleotides — the individual “letters” that comprise the DNA code — are repeated 200 or more times, which is called a full mutation. This shuts down production of the FMR1 protein, which is needed for healthy brain development.
People with between 55 and 200 repeats typically do not develop fragile X, but are at risk for fragile X-associated disorders such as fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). Children of premutation carriers have a higher risk of developing fragile X.
Premutation carriers are more common than people with the full mutation. U.S. estimates range from 1 in 148 to 1 in 291 females, and 1 in 290 to 1 in 855 males.
“To date, there are no treatments to cure or reverse premutation-linked conditions like FXTAS and FXPOI,” Sorensen said. “This registry can expedite treatment development by centralizing information for individuals who are interested in [participating] in future research.”
Premutation carriers, ages 18 and older, from anywhere in the world may join the registry. Family members of people with fragile X are encouraged to enlist as research controls, provided they are not carriers themselves. Those unsure of their carrier status may also register, and indicate that they have not yet been tested.
Personal data will be securely guarded and not given to the NFXF. External investigators seeking to contact registry participants about taking part in other studies must notify the registry team and advisory committee. Experts and fragile X family representatives will review the planned research to make a decision. Participants are under no obligation to take part in any studies.
UC Davis will maintain the registry database, protecting it in compliance with both U.S. and European patient privacy regulations.
The collaborators intend to update participants with information on the latest research that may interest them.
“Knowledge is power,” said Sorensen, “and this registry is a great first step to contribute to our knowledge base.”
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