Mainstreaming Genetic Testing for Non-Ischemic Cardiomyopathy in Western Canada

Официальное название

Mainstreaming Genetic Testing for Non-Ischemic Cardiomyopathy in Western Canada: A Family-Centered and Genome-First Approach to a Common and Life-Threatening Cardiomyopathy

Обзор

Heart muscle disorders are a common cause of heart failure: a life-threatening condition that can cause dangerous abnormal heart rhythms (arrhythmia) and a buildup of fluid in the body (edema). In British Columbia (BC) and Alberta, patients with heart failure are cared for in specialized Heart Function Clinics (HFC). Providers in these clinics rapidly diagnose and treat heart failure because early treatment prevents death and disability. In some situations, particularly in young people, heart failure is caused by abnormalities in the genetic blueprint of the heart muscle - this is present at birth and passed down within families (i.e. hereditary). The investigators can diagnose this genetic abnormality by a simple blood or saliva test, which allows for better treatment of patients and diagnosis of family members to protect against heart failure and death. In BC and Alberta, people suspected of having this form of heart failure must be referred to highly specialized programs to receive genetic testing, as these healthcare systems currently do not offer genetic testing through HFCs. However, HFC providers are unaware or discouraged to refer patients because of very long waitlists of these programs. In this study, the investigators want to educate, enable, and empower HFC cardiologists to order genetic testing for heart failure. If such an intervention demonstrates success in this study, patients will no longer have to wait for up to 3 years to see a genetic specialist. Patients will be diagnosed and treated earlier, and their family members who might be in danger of having the condition can be informed more quickly. The investigators aim to leverage this study to encourage healthcare leadership to facilitate more timely access to genetic testing by showing the positive impact on health outcomes.

Вмешательства

• Другое Health service delivery change
  Genetic testing for patients with unexplained non-ischemic cardiomyopathy offered directly by cardiologists in Heart Function Clinics

Первичные конечные точки

• Uptake of genetic testing for non-ischemic cardiomyopathy (NICM) [Срок оценки: Through 12 months after first participant enrollment]
• Time to genotypic diagnosis [Срок оценки: Up to 12 months after consent for genetic testing is provided.]

Вторичные конечные точки (3)

• Proportion of participants with a change in clinical management following genetic test results [Срок оценки: Up to 12 months after return of genetic test results]
• Patient-reported satisfaction, knowledge, and decision quality related to genetic testing [Срок оценки: At 12 months after first participant enrollment]
• Proportion of participants with a change to family screening recommendations following genetic test results [Срок оценки: Up to 12 months after return of genetic test results]

Критерии участия

Критерии включения

• 18 years of age or older
• Clinical eligibility for non-ischemic cardiomyopathy/dilated cardiomyopathy (NICM/DCM) genetic testing, per existing clinical criteria in each respective province a. BC sites - presence of NICM/DCM with at least one of the following: i. Family history of NICM/DCM ii. Evidence of conduction disease iii. Arrhythmia (Ventricular or atrial) iv. Unexplained cardiomyopathy under 70 years v. Suggestive syndrome(s)

Alberta sites - Left ventricular ejection fraction of less than 50% and any degree of left or right ventricular dilation

Критерии исключения

• Previously known genetic result that explains NICM/DCM
• Under age 18 years
• Declines genetic testing

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Рандомизированное

Модель

Перекрёстный дизайн

Маскирование

Открытое

Основная цель

Организация здравоохранения

Центры проведения

Канада · 4 центра

• Peter Lougheed Centre Cardiac Function Clinic — Calgary
• Foothills Medical Centre Cardiac Function Clinic — Calgary
• Vancouver General Hospital Cardiac Function Clinic — Vancouver
• St. Paul's Hospital Heart Function Clinic — Vancouver

Идентификаторы

NCT: NCT07345338 · H25-02075

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗