Identification of Acute Intermittent Porphyria Modifying Genes

Icahn School of Medicine at Mount Sinai150 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Acute Intermittent Porphyria (AIP)

Eligibility

Sex: ALLMin age: 12 Years

Medical Language ↔ Plain English

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)

Locations (1)

Icahn School of Medicine at Mount Sinai

New York, New York, United States

RECRUITING

Outcomes

Primary Outcomes

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)

Time frame: Day 1

Central Contacts

Chloe Cheung

CONTACT

646-369-2045 chloeyihang.cheung@mssm.edu

Data from ClinicalTrials.gov

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