NCT07653555尚未招募不适用
A Cluster Randomized Controlled Trial To Evaluate The Efficacy Of Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- Mayo Clinic
- 入组人数
- 480
- 试验地点
- 1
研究概览
简要总结
The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).
详细描述
- Index Patient Genetic Testing (only index patients from the REP database):
- Index patients identified through the REP database will undergo confirmatory FH testing HCHLG panel
- A sputum collection kit is mailed to participants along with a pre-addressed return mailer.
- Results are recorded in the electronic medical record and communicated to index (REP) participants with next-step instructions.
- Only index patients with confirmed pathogenic/likely pathogenic variants proceed in the study.
- Relative Genetic Testing:
- Relatives in the intervention arm who contact the study team and consent will be mailed a Focused Molecular Targeted Test (FMTT) sputum kit.
- Testing targets the specific FH variant identified in the corresponding index patient.
- Testing costs are covered **only** for relatives in the intervention arm.
- Control arm relatives may choose to pursue clinical genetic testing independently through their primary care provider referring them to genetic counselling (usual care).
- Baseline Data Collection (Index Patients):
- Collection of demographics and FH-related history via REDCap.
- LDL-C values abstracted from EMR; ROI used if external records are required.
- Randomization:
- Index patients randomized 2:1 to intervention or control arm.
- Randomization occurs only after completion of baseline survey.
- Intervention Arm Procedures:
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Index Patients:
- •Age ≥ 18 years.
- •Confirmed FH diagnosis using Dutch Lipid Clinic Network criteria *or* genetic confirmation.
- •Identified through REP or Tapestry databases.
- •Able and willing to provide informed consent.
- •At least one eligible first- or second-degree relative.
- •Access to and active use of email (computer literacy requirement).
- •First- or second-degree relative of an enrolled index patient.
- •Age ≥ 1 year (minors require parental consent + assent).
- •Willing to participate and able to complete electronic consent (guardian-assisted if minor).
- •Access to and active use of email (guardian).
排除标准
- •Index Patients:
- •No confirmed FH diagnosis.
- •Insufficient clinical follow-up (<5 years).
- •No identifiable or contactable relatives.
- •Prior participation in structured cascade testing.
- •Severe cognitive impairment preventing informed consent.
- •Prior participation in structured cascade testing.
- •Severe cognitive impairment preventing informed consent.
研究组 & 干预措施
Usual Care
Active Comparator
Patients will receive standard of care support
干预措施: Standard of Care (Other)
Structured Outreach
Experimental
Patients and relatives will receive outreach in the form of direct or indirect contact
干预措施: Cascade testing (Other)
研究者
Isa J. Houwink
Principal Investigator
Mayo Clinic
研究点 (1)
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