Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Recruiting

• Conditions: Arrhythmogenic Right Ventricular Cardiomyopathy

• Registration Number: NCT06311708
• Lead Sponsor: Tenaya Therapeutics

Brief Summary

This is a multicenter, non-interventional study to observe the natural progression of the disease and to study the prevalence of pre-existing antibodies to AAV9 used for gene therapy in a population of patients with PKP2 gene-associated ARVC. Participation from all patients is encouraged regardless of interest in or eligibility for gene therapy.

Detailed Description

Patients will receive standard of care treatments and assessments under the care of their healthcare provider. Biologic samples will be collected annually to measure cardiac and other related biomarkers. Clinical and observational data will be collected prospectively for up to 5 years from the date of enrollment, or until the patient withdraws consent/assent, undergoes heart transplantation, or dies.

If consent is provided, there may be a one-time sample collection to evaluate genetics for research purposes. Quality of Life (QoL) questionnaires will be used to assess a patient's wellbeing and quality of life. If not included as part of a patient's standard of care, diagnostic Holter (or equivalent) monitoring will be required annually. No investigational product will be administered. Participation from all patients is encouraged regardless of interest in or eligibility for gene therapy.

Study Timeline

• Study Start: 2023-01-31
• Study First Submitted: 2024-03-08
• Study First Submitted QC: 2024-03-08
• Study First Posted: 2024-03-15
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-30
• Last Update Posted: 2024-11-01
• Primary Completion: 2030-03-29
• Study Completion: 2030-07-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Ages 14-65 years, inclusive, at the time of consent
• Pathogenic or likely pathogenic PKP2 gene mutation
• Diagnosed with ARVC and meet 2010 Modified Task Force Criteria for ARVC as affected.
• Functioning ICD

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Exclusion Criteria

• Currently receiving systemic immunosuppressive therapy, cytotoxic chemotherapy, immunoglobulin therapy or monoclonal antibody therapy
• History of clinically significant liver disease, hepatitis B virus, hepatitis C virus, human immunodeficiency virus, or tuberculosis infection
• Previously dosed with any investigational or approved gene therapy product at any time
• Concurrent participation in another interventional clinical trial unless approved by the Sponsor. Participation in a noninterventional study may be allowed at the investigator's discretion.
• History of cardiac transplant.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Investigate the seroprevalence of pre-existing antibodies to AAV9 in patients with PKP2-associated ARVC	5 years

Secondary Outcome Measures

Name	Time	Method
To characterize the burden of illness in patients with pathogenic or likely pathogenic PKP2 mutations	5 years
To evaluate functional status and Quality of Life (QoL) in patients with pathogenic or likely pathogenic PKP2 mutations	5 years
To characterize arrhythmic risk in patients with pathogenic or likely pathogenic PKP2 mutations	5 years
To evaluate heart function as assessed by imaging in patients with pathogenic or likely pathogenic PKP2 mutations	5 years

Trial Locations

Locations (21)

University of California San Francisco; 🇺🇸 San Francisco, California, United States

University of Colorado, Denver; 🇺🇸 Aurora, Colorado, United States

John Hopkins University School of Medicine; 🇺🇸 Baltimore, Maryland, United States

Brigham and Women's Hospital; 🇺🇸 Boston, Massachusetts, United States

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States

New York University; 🇺🇸 New York, New York, United States

Cleveland Clinic; 🇺🇸 Cleveland, Ohio, United States

Medical University of South Carolina; 🇺🇸 Charleston, South Carolina, United States

Hopital Louis Pradel; 🇫🇷 Bron, France

Nantes University Hospital; 🇫🇷 Nantes, France

Pitié-Salpêtrière Hospital; 🇫🇷 Paris, France

Hôpital Haut-Lévêque; 🇫🇷 Pessac, France

University Hospital Muenster; 🇩🇪 Münster, Germany

Wuerzburg University Hospital; 🇩🇪 Würzburg, Germany

Centro Cardiologico Monzino; 🇮🇹 Milano, Italy

Istituti Clinici Scientifici Maugeri SpA; 🇮🇹 Pavia, Italy

Skåne University Hospital; 🇸🇪 Malmö, Sweden

The Queen Elizabeth Hospital; 🇬🇧 Glasgow, United Kingdom

Barts & The London Health NHS Trust; 🇬🇧 London, United Kingdom

St. George's University Hospitals NHS Foundation Trust; 🇬🇧 London, United Kingdom

Royal Brompton & Harefield NHS Foundation Trust; 🇬🇧 London, United Kingdom