The aim of this research study is to detect potential signs of cognitive alterations in Fragile X Premutation Carriers by measuring language abilities and molecular measurements. This is the first step in developing a composite biomarker to detect neurodegeneration in its early stages. We will combine two different kinds of assessments:
1. Psycholinguistic tasks: Differences in word finding abilities can be a potential sign of cognitive alteration associated with being a premutation carrier. The tasks we have designed will investigate whether these changes can be found in expressive (naming) or receptive (understanding) language. You will have to perform 3 computer based linguistic tasks (approximately 25 minutes in total).
2. Plasma protein alterations: Changes in plasma-based proteins related to brain development and function occur as a result of mutations in the FMR1 gene. We will test if proteins related to neuronal activity are changed in premutation carriers. A trained phlebotomist will take less than 9ml of blood in one tube for molecular analysis (approximately 15 minutes).
The results are expected to provide the foundation for further studies, aimed at the development of early clinical biomarkers which can be used to guide early interventions and treatments for premutation carriers. Additionally, we believe it can provide an overall better understanding of the mutations on the FMR1 gene that will also apply to Fragile X Syndrome (FXS).We are looking for participants who are willing to take part in the study. If you are interested, you can get in touch with me at the following email address:
fabiana.traini@ulysses-neuro.com
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. Thus, if you have a friend or a family member that matches these criteria and might be interested in participating in the study, please feel free to share this information with them and to bring them along with you that day. The study will be carried out at Lloyd Institute, Trinity College Institute of Neuroscience, Dublin 2. If you would like to take part in this study, please contact us and we can arrange a date and time that might be suitable for you. We will be happy to answer any further questions or concerns you might have.
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