GENFI‑NeuroDev

 

Principal Investigator: Elizabeth Finger, MD

Funding Source(s): Canadian Institutes for Health Research

Official Study Title: Genetic Frontotemporal Dementia Initiative for Neurodevelopment (GENFI-NeuroDev)

Condition(s) Studied: Brain development in children from families with frontotemporal dementia (FTD) caused by an FTD-associated genetic mutation, such as microtubule associated protein tau (MAPT), progranulin (known as granulin or GRN), or chromosome 9 open reading frame 72 (C9ORF72).

Contact Information: Please contact the study coordinator, Kristy Coleman, at cognitiveneurology@sjhc.london.on.ca if you would like to participate in this study or have further questions.

What is the GENFI-Neurodev study and its purpose?

The GENFI-NeuroDev study is an extension of the Genetic FTD Initiative (GENFI). It aims to understand brain development in youth aged 9 to 17 who have a family history of hereditary FTD in a first or second degree relative.

Why are we doing this study?

FTD has always been considered an adult-onset neurodegenerative disease. The hereditary form of FTD is linked to variants in different genes, with the three most common ones in C9orf72, GRN, and MAPT. These genes have critical roles during key periods of brain development, which happens until around 30 years old. This begs the question of whether brain development is affected by FTD-causing genetic variants. Learning about how brain development in youth is resilient to FTD can help identify new potential targets for FTD treatment.

Who can participate?

Youths between the ages of 9 and 16 years, inclusive, at time of enrollment who have a 1st or 2nd degree biological relative with genetic FTD (i.e. a known mutation in biological parent or grandparent), and who will be followed until age 17 years. Parents or guardians of potential GENFI NeuroDev participants are all aware of the autosomal dominant genetic nature of FTD in their family prior to being approached for potential participation in this study. However, parents or grandparents do not need to know their own genetic status, and children will not undergo clinical genetic testing.

What would participating entail?

  • Timeline: Participants will have an initial first visit, and then a follow-up visit 2 years later.
  • Testing involved: A neurological exam, cognitive and behavioural assessments, MRI scan, and collection of blood or saliva for genetic testing.
  • Time needed per visit: 3-4 hours
  • Preparation before visit: None
  • Costs: None
  • Compensation: Participants will be reimbursed for travel-related expenses, including compensation for time.

Ethics approval, consent, and data privacy safeguards

This study has received institutional ethics approval, and participants would provide written informed consent prior to beginning study procedures. Appropriate data privacy safeguards will be in place, as outlined in our ethics protocol. If you have any questions regarding ethics, consent, or data privacy, please contact us directly.

Where does this study take place?

  • Western University, London, Canada
  • McGill University, Montreal, Canada
  • Laval University, Quebec City, Canada
  • Sunnybrook Hospital, Toronto, Canada
  • Karolinska Institute, Stockholm, Sweden
  • University College London, London, United Kingdom
  • University of Halle, Halle, Germany
  • University of Tubingen, Tubingen, Germany
  • Erasmus University Rotterdam, Rotterdam, Netherlands

I don’t live in one of the cities that conducts this study, but I’m interested.

Please contact the study coordinator, Kristy Coleman, at cognitiveneurology@sjhc.london.on.ca, who will be able to provide more information and direct you to a nearest participating site for more options.