A Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes

NCT ID: NCT04747431

Last Updated: 2025-12-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

30 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-09-14

Study Completion Date

2031-08-31

Brief Summary

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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

Detailed Description

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PBFT02 is an adeno-associated viral vector serotype 1 carrying GRN, the gene encoding for human progranulin, formulated as a solution for injection into the cisterna magna. This is a global interventional, multicenter, open-label, single-arm study of PBFT02 delivered as a one-time dose administered into the cisterna magna to participants with FTD-GRN or C9orf72. Participants aged ≥ 35 and ≤ 75 years with early symptomatic FTD-GRN or with symptomatic FTD-C9orf72 may be enrolled into the study.

PBFT02 will be studied in three cohorts of FTD-GRN participants and two cohorts of FTD-C9orf72 participants.

This is a 5-year study, with a 2-year main study, followed by a 3-year safety extension.

Conditions

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Frontotemporal Dementia FTD FTD-GRN Dementia Frontotemporal C9orf72

Keywords

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frontotemporal dementia Progranulin Mutations FTD-GRN Gene Therapy Dementia Gene Therapy AAV1 Fronto-temporal Dementia C9orf72

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Open-label, multi-center, dose escalation
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cohort 1

Drug: PBFT02 Dose 1; Single dose of PBFT02, via intra cisterna magna

\*GC/g: gene copy per gram of estimated brain weight

Group Type EXPERIMENTAL

PBFT02

Intervention Type DRUG

PBFT02

Cohort 2, 3, 4 and 5

Drug: PBFT02 Dose 1 or 2; Single dose of PBFT02, via intra cisterna magna

\*GC/g: gene copy per gram of estimated brain weight

Group Type EXPERIMENTAL

PBFT02

Intervention Type DRUG

PBFT02

Interventions

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PBFT02

PBFT02

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

1. Documented to be a pathogenic carrier of GRN or C9orf72 mutation
2. Clinical diagnosis of frontotemporal dementia
3. Have a reliable informant / caregiver (and back-up informant / caregiver) who personally speaks with or sees the subject at least weekly
4. Living in the community (i.e., not in a nursing home); assisted living may be permitted at the discretion of the investigator

Exclusion Criteria

1. 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).
2. 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
3. Homozygous GRN mutation carrier (FTD-GRN Cohorts 1-3) or homozygous C9orf72 mutation carrier (FTD-C9orf72 Cohorts 4-5).
4. Rosen-modified Hachinski Ischemic Scale score \> 7
5. Known presence of a structural brain lesion (eg, tumor, cortical infarct) that could reasonably explain symptoms in a symptomatic subject
6. Known presence of an AD-causing mutation in PSEN1, PSEN2 or APP based on genetic testing history (if performed)
7. 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
8. History of untreated vitamin B12 deficiency
9. Presence of untreated hypothyroidism (thyroid stimulating hormone \[TSH\] \> ULN and free T4 \< LLN)
10. eGFR ≤ 30 ml/min (as calculated using the CKD-EPI equation)
11. Alanine aminotransferase \[ALT\] or aspartate aminotransferase \[AST\] \> 2 × ULN, or total bilirubin \> ULN)
12. Respiratory failure that requires supplemental oxygen, tracheostomy, or reliance on non-invasive ventilation for \>2 hours during waking hours
13. Inability to provide full consent or the lack of a legally authorized caregiver with adequate contact who can provide consent
14. Any contraindication to MRI or lumbar puncture (LP) (eg, local infection, history of thrombocytopenia, coagulopathy)
15. Any contraindication to the ICM administration procedure
16. Medical conditions or laboratory or vital sign abnormalities that would increase risk of complications from ICM injection, anesthesia, LP, and/or MRI (e.g., fever, hypoxia, tachycardia, or evidence of active infection)
17. Immunocompromised status
18. Peripheral axonal sensory neuropathy
19. Receipt of a vaccine within 14 days of dosing
20. A positive test result for human immunodeficiency virus (HIV), human T cell leukemia virus (HTLV) type 1 or type 2, or Hepatitis B or C; a Mycobacterium tuberculosis positive test within 1 year of or determined at screening
21. Malignant neoplasia (except localized skin cancer) or a documented history of hereditary cancer syndrome
22. Any concurrent disease that, in the opinion of the investigator, may cause cognitive impairment unrelated to GRN or C9orf72 mutations, including other causes of dementia, neurosyphilis, hydrocephalus, stroke, small vessel ischemic disease, uncontrolled hypothyroidism, or vitamin deficiency
23. Current or recent history of clinically significant suicidal ideation within the past 6 months
24. For women of childbearing potential, a positive serum pregnancy test at the screening visit, a positive serum result on Day 1 prior to administration of the investigational product, or unwillingness to have additional pregnancy tests during the study. Women of childbearing potential must use a highly effective method of birth control or engage in abstinence until 90 days postdose
25. Women who are breastfeeding
26. For sexually active men, unwillingness to use a medically accepted method of double-barrier contraception (such as a condom/diaphragm used with spermicide) or engage in abstinence from the date of screening until 90 days postdose
27. Any condition (eg, history of any disease, evidence of any current disease, any finding upon physical examination, or any laboratory abnormality) that, in the opinion of the investigator, would put the subject at undue risk or would interfere with evaluation of the investigational product or interpretation of subject safety or study results
28. Any acute illness requiring hospitalization within 30 days of enrollment
29. Failure to meet the protocol-specified coagulation test criteria:

* Platelet count \> 100,000 per uL
* INR \< 1.5
* aPTT \< 40 seconds
30. Use of anticoagulants in the 2 weeks prior to screening
31. Hypersensitivity or contraindications to corticosteroid use
32. Known or suspected intolerance or hypersensitivity to PBFT02 or any of its ingredients or to closely related compounds
33. Any condition expected to increase risk of thrombosis
34. Hypersensitivity or contraindications to apixaban

Additional Criteria for FTD-C9orf72 (Cohorts 4-5) ONLY: Presence of concurrent ALS is permitted provided the following criteria are NOT met:
35. ALSFRS-R \< 35 at screening.
36. SVC \< 75% of predicted normal adjusted for sex, age, and height (from the sitting position).
37. Bulbar-onset ALS.
38. Current or anticipated need, in the opinion of the Investigator for a diaphragm pacing system (DPS) during the study period.
39. If taking riluzole or edaravone, participant's dose has not been stable for ≥ 30 days prior to Day 1 and/or dose adjustments are anticipated before the Day 60 study visit.
Minimum Eligible Age

35 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Passage Bio, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Tiffini Voss, MD, PhD

Role: STUDY_DIRECTOR

Passage Bio, Inc.

Locations

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Michigan Alzheimer's Disease Center

Ann Arbor, Michigan, United States

Site Status RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status RECRUITING

University of Texas at Houston

Houston, Texas, United States

Site Status RECRUITING

Eastern Health-Box Hill Hospital

Melbourne, Victoria, Australia

Site Status RECRUITING

Hospital das Clinicas da Universidade Federal de Minas Gerais (UFMG)

Minas Gerais, , Brazil

Site Status RECRUITING

Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (HCFMUSP)

São Paulo, , Brazil

Site Status RECRUITING

University of Toronto, Toronto Western Hospital

Toronto, Ontario, Canada

Site Status RECRUITING

Montreal Neurological Institute-Hospital

Montreal, Quebec, Canada

Site Status RECRUITING

Centro Hospitalar e Universitário de Coimbra

Coimbra, , Portugal

Site Status RECRUITING

Countries

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Italy United Kingdom United States Australia Brazil Canada Portugal

Central Contacts

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Patient/Family Inquiries

Role: CONTACT

Phone: 267-866-0113

Email: [email protected]

Physician Inquiries

Role: CONTACT

Email: [email protected]

Facility Contacts

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Kiren A Chaudhry

Role: primary

Arijit K Bhaumik, CCRP

Role: backup

Alexandra Tavani

Role: primary

Catherine Cerroni

Role: primary

Omar Hasan

Role: primary

Claire McCarthy

Role: primary

Cassandra Yankoff

Role: backup

Leonardo Cruz de Souza, MD

Role: primary

Leonel Tadao Takada, MD

Role: primary

Luzia Lima Carreira

Role: backup

Behnaz Ghazanfari, MD

Role: primary

Elisabeth Sylvain

Role: primary

Mariana Gomes

Role: primary

Other Identifiers

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2020-004499-17

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

PBFT02-001

Identifier Type: -

Identifier Source: org_study_id