Acute Intermittent Porphyria (AIP) Clinical Trial
Official title:
Identification of Acute Intermittent Porphyria Modifying Genes
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.
Status | Recruiting |
Enrollment | 150 |
Est. completion date | December 2024 |
Est. primary completion date | December 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 12 Years and older |
Eligibility | Inclusion Criteria: - 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): 1. proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator) 2. Parents (no known HMBS mutations or heterozygote with familial mutation) 3. First, second, or third degree relative of (a) or (b) |
Country | Name | City | State |
---|---|---|---|
United States | Icahn School of Medicine at Mount Sinai | New York | New York |
Lead Sponsor | Collaborator |
---|---|
Icahn School of Medicine at Mount Sinai |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Odds ratios (OR) of the effects of identified modifier genes/variants | 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) |
Day 1 |
Status | Clinical Trial | Phase | |
---|---|---|---|
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