Identification of Acute Intermittent Porphyria Modifying Genes
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 150
- 试验地点
- 2
- 主要终点
- Odds ratios (OR) of the effects of identified modifier genes/variants
研究概览
简要总结
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Willing and able to give informed consent
- •12 years of age or older
- •Willingness to provide blood/saliva and urine samples, and clinical information
- •A member of an AIP family, defined as (must meet one of the following):
- •proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
- •Parents (no known HMBS mutations or heterozygote with familial mutation)
- •First, second, or third degree relative of (a) or (b)
排除标准
- 未提供
研究组 & 干预措施
Acute Intermittent Porphyria (AIP)
Symptomatic patients with Acute Intermittent Porphyria (AIP)
A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.
结局指标
主要结局
Odds ratios (OR) of the effects of identified modifier genes/variants
时间窗: Day 1
There are no primary and secondary endpoints. This is an exploratory genetic study. Exploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants. (If putative predisposing or protective gene variants are identified)
次要结局
未报告次要终点
研究者
Robert Desnick
Dean for Genetics and Genomic Medicine Emeritus, Professor and Chair Emeritus
Icahn School of Medicine at Mount Sinai