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Identification of Acute Intermittent Porphyria Modifying Genes

Recruitingn/aAges 12 Years - anyAllIcahn School of Medicine at Mount Sinai
NCT05502133 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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)
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What it tests

  • Not listed
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Where

1 site
Icahn School of Medicine at Mount Sinai
New York, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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