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| Name | Class |
|---|---|
| University of California, San Francisco | OTHER |
| Brigham and Women's Hospital | OTHER |
| New York University | OTHER |
| University of Colorado, Denver |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retrospective and Prospective | Patients who meet the eligibility criteria are observed and data collected both prospectively and retrospectively. |
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| Measure | Description | Time Frame |
|---|---|---|
| Investigate the seroprevalence of pre-existing antibodies to AAV9 in patients with PKP2-associated ARVC | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| To characterize the burden of illness 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 |
| Measure | Description | Time Frame |
|---|---|---|
| • To monitor biomarkers associated with disease progression and inflammation in patients with pathogenic or likely pathogenic PKP2 mutations | 5 years | |
| To evaluate genetics associated with PKP2-associated ARVC | 5 years |
Inclusion Criteria:
Exclusion Criteria:
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Patients who are 14-65 years of age at the time of consent, and with confirmed mutations in PKP2 gene with a diagnosis of ARVC.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Matthew Pollman, MD | Contact | 650-209-8092 | mpollman@tenayathera.com | |
| Niharika Kamat, MS | Contact | clinical.trials@tenayathera.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California San Francisco | Recruiting | San Francisco | California | 94143 | United States |
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| OTHER |
| Johns Hopkins University | OTHER |
| The Cleveland Clinic | OTHER |
| Mayo Clinic | OTHER |
| Medical University of South Carolina | OTHER |
| Hopital Louis Pradel | OTHER |
| Istituti Clinici Scientifici Maugeri SpA | OTHER |
| The Queen Elizabeth Hospital | OTHER |
| St George's University Hospitals NHS Foundation Trust | OTHER |
| Royal Brompton & Harefield NHS Foundation Trust | OTHER |
| Barts & The London NHS Trust | OTHER |
| Skane University Hospital | OTHER |
| Centro Cardiologico Monzino | OTHER |
| Hôpital Haut-Lévêque | OTHER |
| Nantes University Hospital | OTHER |
| Pitié-Salpêtrière Hospital | OTHER |
| Wuerzburg University Hospital | OTHER |
| University Hospital Muenster | OTHER |
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Blood samples will be collected throughout the study 1 time each year to assess proteins and biomarkers associated with ARVC and to study existing antibodies to AAV9.
| To evaluate functional status and Quality of Life (QoL) 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 |
| To evaluate the effect of other cardiac mutations or other genetic variants that might affect the penetrance and/or expressivity of PKP2 mutations in patients with pathogenic or likely pathogenic PKP2 mutations | 5 years |
| To evaluate health care utilization in patients with pathogenic or likely pathogenic PKP2 mutations | 5 years |
| University of Colorado, Denver | Recruiting | Aurora | Colorado | 80045 | United States |
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| John Hopkins University School of Medicine | Recruiting | Baltimore | Maryland | 21287 | United States |
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| Brigham and Women's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
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| Mayo Clinic | Recruiting | Rochester | Minnesota | 55905 | United States |
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| New York University | Recruiting | New York | New York | 10016 | United States |
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| Cleveland Clinic | Recruiting | Cleveland | Ohio | 44195 | United States |
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| Medical University of South Carolina | Recruiting | Charleston | South Carolina | 29425 | United States |
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| Hopital Louis Pradel | Recruiting | Bron | France |
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| Nantes University Hospital | Recruiting | Nantes | 44000 | France |
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| Pitié-Salpêtrière Hospital | Recruiting | Paris | 75013 | France |
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| Hôpital Haut-Lévêque | Recruiting | Pessac | 33604 | France |
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| University Hospital Muenster | Recruiting | Münster | 48149 | Germany |
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| Wuerzburg University Hospital | Recruiting | Würzburg | 97080 | Germany |
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| Centro Cardiologico Monzino | Recruiting | Milan | 20138 | Italy |
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| Istituti Clinici Scientifici Maugeri SpA | Recruiting | Pavia | Italy |
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| Skåne University Hospital | Recruiting | Malmö | 214 28 | Sweden |
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| The Queen Elizabeth Hospital | Recruiting | Glasgow | G514TF | United Kingdom |
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| Barts & The London Health NHS Trust | Recruiting | London | E1 1BB | United Kingdom |
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| St. George's University Hospitals NHS Foundation Trust | Recruiting | London | SW17 0QT | United Kingdom |
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| Royal Brompton & Harefield NHS Foundation Trust | Recruiting | London | SW3 6NP | United Kingdom |
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| ID | Term |
|---|---|
| D019571 | Arrhythmogenic Right Ventricular Dysplasia |
| D006333 | Heart Failure |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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