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Identification of Acute Intermittent Porphyria Modifying Genes

Who can join

Ages 12 and older · All sexes

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)

About the study

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.

Sponsor: Icahn School of Medicine at Mount Sinai · Participants: 150 · Started: Sep 23, 2022

Contact the study team

• Chloe Cheung · Phone: 646-369-2045

Official record on ClinicalTrials.gov — NCT05502133

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.