Study to Identify Genes Affecting Acute Attacks in Acute Intermittent Porphyria AIP Patients

What this Trial Is About

Researchers are investigating the genetic factors that may influence acute attacks in people with Acute Intermittent Porphyria AIP, a hereditary disorder affecting heme production. The study aims to identify specific genes that may increase or decrease the risk of these attacks in symptomatic patients. This observational study is sponsored by the Icahn School of Medicine at Mount Sinai. Participants include symptomatic patients with AIP who have experienced acute attacks, as well as their family members who carry AIP mutations or are related to affected individuals. The study involves collecting blood, saliva, and urine samples along with clinical information to analyze genetic variants. There are no treatments or interventions being tested, as this study focuses on genetic observation. During the study, participants provide biological samples and medical history for analysis. Researchers will measure the odds ratios of how identified modifier genes or variants affect the occurrence of acute attacks. The study involves ongoing data collection and genetic analysis until June 2026. Participation requires informed consent and willingness to provide samples and information.

Identification of Acute Intermittent Porphyria Modifying Genes