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.
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
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.
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.
Other
Other
Not listed
Investigate the seroprevalence of pre-existing antibodies to AAV9 in patients with PKP2-associated ARVC
To characterize the burden of illness in patients with pathogenic or likely pathogenic PKP2 mutations
To characterize arrhythmic risk in patients with pathogenic or likely pathogenic PKP2 mutations
To evaluate functional status and Quality of Life (QoL) in patients with pathogenic or likely pathogenic PKP2 mutations
To evaluate heart function as assessed by imaging in patients with pathogenic or likely pathogenic PKP2 mutations
• To monitor biomarkers associated with disease progression and inflammation in patients with pathogenic or likely pathogenic PKP2 mutations
To evaluate genetics associated with PKP2-associated ARVC
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
To evaluate health care utilization in patients with pathogenic or likely pathogenic PKP2 mutations
Click on the lead sponsor to view all of their trials.
Tenaya Therapeutics
Lead sponsor
University of California, San Francisco
Collaborator
Brigham and Women's Hospital
Collaborator
New York University
Collaborator
University of Colorado, Denver
Collaborator
Johns Hopkins University
Collaborator
The Cleveland Clinic
Collaborator
Mayo Clinic
Collaborator
Medical University of South Carolina
Collaborator
Hopital Louis Pradel
Collaborator
Istituti Clinici Scientifici Maugeri SpA
Collaborator
The Queen Elizabeth Hospital
Collaborator
St George's University Hospitals NHS Foundation Trust
Collaborator
Royal Brompton & Harefield NHS Foundation Trust
Collaborator
Barts & The London NHS Trust
Collaborator
Skane University Hospital
Collaborator
Centro Cardiologico Monzino
Collaborator
Hôpital Haut-Lévêque
Collaborator
Nantes University Hospital
Collaborator
Pitié-Salpêtrière Hospital
Collaborator
Wuerzburg University Hospital
Collaborator
University Hospital Muenster
Collaborator
