AI-Driven, FDG-PET Based Approach to Track Disease Progression and Evolution to Phenoconversion in Progranulin Mutation Carriers

Overview

About this study

The purpose of this study is to develop an AI-driven biomarker based on FDG-PET images to track longitudinal brain changes in asymptomatic (n = 10) and symptomatic (n = 10) GRN mutation carriers.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Have a confirmed GRN mutation with or without a FTLD clinical syndrome (see below) or are a member of a family with a strong medical history of an FTLD syndrome.
  • Age 18 years of age or greater (preferably at least 30 because symptoms rarely develop before then).
  • Must be able to complete all of study procedures.
  • Must be sufficiently fluent in English to complete all measures.
  • Must be willing and able to consent to the protocol and undergo up to 3 visits, which will occur approximately every 6 months.
  • Will be co-enrolled in the ALLFTD study.

Exclusion Criteria:

  • Known presence of a structural brain lesion (e.g., tumor, cortical infarct) that could reasonably explain symptoms in a symptomatic participant.
  • Known presence of an Alzheimer’s disease-causing mutation in PSEN1, PSEN2 or APP; or biomarker evidence for Alzheimer’s disease as a cause of the clinical syndrome.
  • The participant cannot complete all study procedures.
  • Subject is unwilling to return for follow-up.
  • Subject has a contraindication for MRI or FDG-PET.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 1/20/23. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

David Jones, M.D.

Open for enrollment

Contact information:

Ashley Bachman

(507) 284-0695

Bachman.Ashley@mayo.edu

More information

Publications

Publications are currently not available
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CLS-20565552

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