The aim of this research study is to detect potential signs of cognitive alterations in Fragile X Premutation Carriers to assess the risk of developing neurodegeneration like symptoms in Fragile X Premutation Carriers.
Participants can have the option to take part in the in-person or in the online study, based on their location.
In-person study:
We aim to combine two different kinds of assessments:
Alterations in word finding abilities can be a potential sign of cognitive decline that can occur in premutation carriers. The tasks we designed aim at investigating if any of these signs can be found in expressive or receptive language.
Alterations in plasma-based proteins related to brain development and function may occur as a result of mutations on the Fmr1 gene. The objective is to explore if those potential alterations in plasma-based proteins can correlate with language abilities and indicate abnormal processes which contribute to disease progression.
Online study:
The online assessment will be done through a single zoom call where participants will be sent a link to perform the psycholinguistic tasks remotely from the comfort of their home with the assistance of the experimenter. They will only need a stable internet connection, a laptop or a computer, a mouse, and 25 minutes of their time. Taking part in the online assessment will not require a blood draw.
The study has been designed in close collaboration with Fragile X premutation carriers, members of the Irish Fragile X Society, as we strive to empower patients and involve participants in the research process. We believe this project could represent a fundamental step forward in advancing research on Fragile X Premutation carriers providing the foundations for further studies, aimed at the development of early clinical biomarkers which can be used to tackle potential early interventions and treatments for premutation carriers.
Additionally, we believe it can provide an overall better understanding of the mutations on the Fmr1 gene with potential future applications on the full mutation, consequently helping research new treatments and interventions for Fragile X Syndrome.
How to take part?
We are beyond excited to start this journey with you, and we really appreciate your interest and the time you are willing to dedicate to it.
To ensure the success of the study it will be fundamental to compare results of Fragile X Premutation Carriers with a person who doesn’t carry the premutation (called control participants). It’s also important that the control participants are the same gender and similar age of the premutation carriers to avoid inclusion of unwanted variables.
The in-person study will be carried out at Lloyd Institute, Trinity College Institute of Neuroscience, Dublin 2.
The online study can be done from everywhere in the world!
If you are 18+, English or Italian native speaker and you are interested in taking part in the study, whether you are a Fragile X Premutation Carrier or someone interested in participating as control participant to advance research, get in touch with us at:
fabiana.traini@ulysses-neuro.com
Please watch the video below to find out more information about our study.
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