A Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes (NCT04747431)
🩺 Plain-English Summary (8th-Grade Level)
PBFT02 is a gene therapy for frontotemporal dementia intended to deliver a functional copy of the GRN gene to the brain. This study will assess the safety, tolerability and efficacy of this treatment in patients with frontotemporal dementia and mutations in the granulin precursor (GRN) or chromosome 9 open reading frame 72 (C9ORF72) genes
Who can join: To join this study, participants generally need to meet the listed inclusion criteria (4 items) and avoid the listed exclusions (43 items).
Location: Michigan Alzheimer's Disease Center — Ann Arbor, Michigan
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistCheck every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).
Usually NOT eligible if any of the following apply:
- Exclusion Criteria:
- Classification of the GRN mutation as "not pathogenic," "likely benign variant," "benign variant," or "pathogenic nature unclear" (FTD- GRN Cohorts 1-3) or C9orf72 HRE length ≤ 30 (FTD-C9orf72 Cohorts 4-5).
- Previous treatment with any gene therapy. Any other therapies with the potential to alter PGRN levels must be washed out for at least 5 half-lives prior to entry into this study
- Homozygous GRN mutation carrier (FTD-GRN Cohorts 1-3) or homozygous C9orf72 mutation carrier (FTD-C9orf72 Cohorts 4-5).
- Rosen-modified Hachinski Ischemic Scale score \> 7
- Known presence of a structural brain lesion (eg, tumor, cortical infarct) that could reasonably explain symptoms in a symptomatic subject
- Known presence of an AD-causing mutation in PSEN1, PSEN2 or APP based on genetic testing history (if performed)
- Previous history of Korsakoff encephalopathy, severe alcohol or substance dependence (within 5 years of onset of dementia), except where onset of increased alcohol consumption occurs at the time of FTD disease onset
- History of untreated vitamin B12 deficiency
- Presence of untreated hypothyroidism (thyroid stimulating hormone \[TSH\] \> ULN and free T4 \< LLN)
- eGFR ≤ 30 ml/min (as calculated using the CKD-EPI equation)
- Alanine aminotransferase \[ALT\] or aspartate aminotransferase \[AST\] \> 2 × ULN, or total bilirubin \> ULN)
🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.
📍 All Participating Trial Locations (10 Sites)
- Michigan Alzheimer's Disease Center — Ann Arbor, Michigan
- University of Pennsylvania — Philadelphia, Pennsylvania
- Vanderbilt University Medical Center — Nashville, Tennessee
- University of Texas at Houston — Houston, Texas
- Eastern Health-Box Hill Hospital — Melbourne, Victoria
- Hospital das Clinicas da Universidade Federal de Minas Gerais (UFMG) — Minas Gerais,
- Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (HCFMUSP) — São Paulo,
- University of Toronto, Toronto Western Hospital — Toronto, Ontario
- Montreal Neurological Institute-Hospital — Montreal, Quebec
- Centro Hospitalar e Universitário de Coimbra — Coimbra,
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.