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The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality of life (QoL). This study will also collect information on treatments, procedures and outcome in infants and children up to 18 yrs who have this mutation.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retrospective | All patients who meet the eligibility criteria will be eligible for retrospective chart review. | ||
| Prospective | 100 patients meeting the eligibility criteria will be followed for 5 years, in addition to a retrospective chart review. Assessments will be completed as part of a participant's regular schedule of physician visits, no additional visits will be required. Aside from a simple annual blood draw, assessments are non-invasive, including a Quality of Life questionnaire. |
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| Measure | Description | Time Frame |
|---|---|---|
| To characterize the disease course and natural history in participants with pathogenic or likely pathogenic MYBPC3 mutations with a specific focus on cardiac events and measurement | 5 years for prospective group, n/a for retrospective group |
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Retrospective
Inclusion Criteria:
Exclusion Criteria:
Prospective
Inclusion Criteria:
For Infants:
For all other participants:
Exclusion Criteria:
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Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Matthew Pollman, MD | Contact | 650-209-8092 | mpollman@tenayathera.com | |
| LaTanya Tomlinson | Contact | clinical.trials@tenayathera.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Arkansas Children's Hospital | Recruiting | Little Rock | Arkansas | 72202 | United States | |
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| Children's Hospital Los Angeles |
| Recruiting |
| Los Angeles |
| California |
| 90027 |
| United States |
| University of California Davis Health | Recruiting | Sacramento | California | 95817 | United States |
| Rady Children's Hospital - San Diego | Recruiting | San Diego | California | 92123 | United States |
| University of Colorado Hospital - Anschutz Medical Campus | Recruiting | Aurora | Colorado | 80045 | United States |
| Nemours Alfred I. Dupont Hospital for Children | Recruiting | Wilmington | Delaware | 19803 | United States |
| Joe DiMaggio Children's Hospital | Recruiting | Hollywood | Florida | 33021 | United States |
| Children's Mercy Hospital Kansas | Recruiting | Kansas City | Missouri | 64108 | United States |
| St. Louis Children's Hospital | Recruiting | St Louis | Missouri | 63110 | United States |
| Cohen Children's Medical Center | Recruiting | Lake Success | New York | 11042 | United States |
| Mount Sinai | Recruiting | New York | New York | 10029 | United States |
| Columbia University Irving Medical Center | Recruiting | New York | New York | 10032 | United States |
| Montefiore Medical Center, Albert Einstein College of Medicine | Recruiting | The Bronx | New York | 10467 | United States |
| Cincinnati Children's Hospital Medical Center | Recruiting | Cincinnati | Ohio | 45229 | United States |
| Cleveland Clinic Main Campus | Recruiting | Cleveland | Ohio | 44195 | United States |
| DDC Clinic Center for Special Needs Children | Recruiting | Middlefield | Ohio | 44062 | United States |
| Cardiology Care for Children | Recruiting | Lancaster | Pennsylvania | 17601 | United States |
| Children's Hospital of Philadelphia | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
| University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh | Recruiting | Pittsburgh | Pennsylvania | 15224 | United States |
| Children's Medical Center Dallas | Recruiting | Dallas | Texas | 75207 | United States |
| Texas Children's Hospital | Recruiting | Houston | Texas | 77030 | United States |
| University of Alberta Hospital | Recruiting | Edmonton | Alberta | T6G 2B7 | Canada |
| The Hospital for Sick Children | Recruiting | Toronto | Ontario | Canada |
| Hospital Sant Joan de Déu Barcelona | Recruiting | Barcelona | 8950 | Spain |
| Hospital General Universitario Gregorio Marañón | Recruiting | Madrid | 28003 | Spain |
| Hospital Alvaro Cunqueiro - Clinico Universitario Vigo | Recruiting | Vigo | 36312 | Spain |
| NHS Greater Glasgow and Clyde | Recruiting | Glasgow | G12 0XH | United Kingdom |
| Royal Brompton & Harefield NHS Foundation Trust | Recruiting | London | SW3 6NP | United Kingdom |
| Great Ormond Street Hospital for Children NHS Foundation Trust | Recruiting | London | WC1N 3JH | United Kingdom |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D002312 | Cardiomyopathy, Hypertrophic |
| D002311 | Cardiomyopathy, Dilated |
| D002313 | Cardiomyopathy, Restrictive |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D001020 | Aortic Stenosis, Subvalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D006332 | Cardiomegaly |
| D000083083 | Laminopathies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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