Examination of the earliest symptoms and biomarkers of FTLD in carriers of a MAPT mutation
Investigators: Judith L. Heidebrink, Henry Paulson
Funding (subcontract): National Institute of Neurological Disorders and Stroke, 2014-2018 (5 R01 NS 076837 03)
FTD is a debilitating neurodegenerative disease. The proposed study seeks to identify the earliest detectable clinical symptoms in individuals who will develop FTLD, and will implement a wide range of clinical assessments to accomplish this goal. Specifically, the investigators plan to examine cognition, behavior, psychiatric symptoms, and dietary habits across mutation carriers and non-carriers. This rigorous and comprehensive longitudinal clinical characterization, in combination with the fact that all participants are from the same family, provides us with a distinct advantage for detecting early and subtle clinical symptoms.
In accordance with the protocol for this study, the Site will provide the following:
1) Site must have in place a qualified study coordinator and all other necessary personnel.
2) Submission of required regulatory documents to the Sites? IRB, within 8 weeks of receipt of the signed protocol.
3) Baseline visit of first subject performed within 4 months of Site being approved by the Coordinating Center to begin enrollment. The Site will make a good faith effort to enroll 6-10 subjects.
4) Approach all eligible subjects consent the study the research protocol, including consent to CSF collection, MRI, and genotyping.
5) Selection of subjects and implementation of a retention program to ensure subjects are retained for the duration of the study to the greatest extent possible.
6) Site must make a good faith effort to obtain 3T MRI, and collection of cerebral spinal fluid (CSF) by lumbar puncture and blood specimen in all enrolled subjects.
7) Full compliance with all procedures specified in the protocol and in the procedures and imaging technical manuals.
8) Full compliance with the specified inclusion/exclusion criteria cited in the protocol.
9) Ensure proper informed consent is obtained for all study-related procedures being performed.
10) Proper collection of all imaging data and clinical data. Data must be collected within the time limits specified in the procedures/technical manual(s) for the protocol.
11) Ensure the quality of clinical and biomarker samples; Samples must be collected and shipped within the time limits specified in the procedures manual/protocol.
12) Quality control of primary end point variables by utilizing single examiner throughout the study protocol. If an alternate examiner must be used, ensure overlap and appropriate training of new study personnel.
13) Training of all study personnel and proper administration of all assessments.
14) Ensure CDR and UDS raters maintain current certification throughout the entire study.
15) Prompt response to requests (administrative or data-related) from the Coordinating Center by email, phone, or through data query tool.
16) Ability to communicate with the Coordinating Center via e-mail.
17) Ability to procure any study materials and supplies not provided by the Coordinating Center in order to conduct research-appropriate storage and accounting.
18) Ensure scanner compliance by following specified imaging protocols as specified in the Technical Manuals for MRI and by reporting any modifications to scanners to the Coordinating Center and the MRI core (respectively) in case re-certification is required.