A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 200
- 试验地点
- 58
- 主要终点
- 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
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Retrospective
- •Inclusion Criteria:
- •Data is available for patient <18 years of age. Patients must be <18 years of age at enrollment or at time of death.
- •Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
排除标准
- •Patient received cardiac transplantation or died >10 years before study initiation. For homozygous or biallelic infants, data may be collected beyond this 10-year period.
- •Prospective
- •Inclusion Criteria:
- •For Infants:
- •Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
- •For all other participants:
- •Age <18 at entry into the prospective study.
- •Documented results of genotyping identifying at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
- •Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
- •Exclusion Criteria:
- •Concurrent participation in an interventional clinical trial unless approved by the sponsor.
- •Severe noncardiac disease anticipated to significantly reduce life expectancy.
研究组 & 干预措施
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.
结局指标
主要结局
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
时间窗: 5 years for prospective group, n/a for retrospective group
次要结局
未报告次要终点