The new website, called eHub, is open to all affected by the disease or carrying a so-called premutation of the gene associated with fragile X, and aims to collect detailed background and clinical data on these people. To register, click here.
Fragile X and associated conditions — fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS) — are linked to an expansion of three nucleotides, CGG, in the FMR1 gene. (C stands for cytosine and G for guanine, which are two of the four building blocks of DNA.)
The more CGG repeats, the higher the risk of developing fragile X. While a normal FMR1 gene has up to about 40 CGG repeats, 55 to 200 repeats are classified as a premutation and more than 200 a full mutation, leading to fragile X.
People carrying a premutation do not develop fragile X, but they may develop FXPOI or FXTAS, and their children are at a higher risk of having the full mutation.
FXPOI compromises a woman’s ovary function, and can lead to infertility and early menopause. Characterized by motor and cognitive impairments, FXTAS is a late-onset disease that more often affects males.
“I’d encourage anyone affected by fragile X or the premutation to take part. Not nearly enough is known about how these conditions affect people and how this might change as they get older,” Andrew Stanfield, MD, the director of clinical research at the Patrick Wild Centre, said in a press release.
“By taking part, people can help us to shine a light on the importance of this area and begin to answer crucial questions about what the future holds,” Stanfield added.
The center’s mission is to understand the neurological basis of, and to test new therapies, for autism spectrum disorders, fragile X syndrome — the leading single genetic cause of autism — and intellectual disabilities.
With the new website for its fragile X registry, anyone with fragile X or carrying a premutation, or their family members can register an online profile. Children under 16 need an adult to set up a profile for them.
Parents, guardians, and legal representatives can fill in the study on behalf of their dependent.
After registering, participants will be asked to complete within two months a number of short, widely used surveys about themselves or the person in their care. These surveys will be repeated every two years.
Participants will also be asked to add family members and whether they wish to be contacted about other research studies. The center is also recruiting a control group of individuals who do not have fragile X or carry the premutation to allow for appropriate comparison studies.
With its eHub, the center aims to gradually create a rich picture about how these disorders affect people and how this could change over time, as well as enabling a closer contact between patients and their family members.
“We also hope that the information collected will tell us about how biological factors, like genetics, affect behaviour and cognition,” the center wrote on its website.
Currently, face-to-face assessments for the registry are temporarily suspended.
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