Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 4
- 主要终点
- Number of participants enrolled in the patient registry
研究概览
简要总结
The objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and their progression, identify biomarkers, and develop and validate patient reported outcomes.
详细描述
Participants with a confirmed molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) will complete annual follow-ups (or every 6 months for participants under 2 years of age). Participants with a biochemical diagnosis, but without a molecular diagnosis, will complete baseline evaluations and will not complete further annual assessments if a molecular diagnosis is not made following the baseline evaluations. Study activities will involve standard of care clinical assessments and medical record data abstraction for such assessments, as well as research-specific assessments, questionnaires, and sample collection.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator
- •Provision of signed and dated informed consent form (and assent when applicable) from subject or subject's legal representative
排除标准
- •- Presence of a major unrelated condition
研究组 & 干预措施
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Patients with a molecular and/or biochemical diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).
结局指标
主要结局
Number of participants enrolled in the patient registry
时间窗: 5 years
The number of participants enrolled in the patient registry will be assessed.
次要结局
- Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10)(Yearly, up to 5 years or every 6 months if participant is under 2 years of age)
- Vineland Adaptive Behavior Scale (VABS)(Yearly, up to 5 years or every 6 months if participant is under 2 years of age)
研究者
Mary LoPiccolo
Assistant Professor
Icahn School of Medicine at Mount Sinai