Identification of Acute Intermittent Porphyria Modifying Genes

Recruiting now

Conditions studied: Acute Intermittent Porphyria (AIP)

In brief

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.

Key facts

Study ID

NCT05502133

Run by

Icahn School of Medicine at Mount Sinai

People needed

150

Starts

2022-09-23

Expected to finish

2026-06-01

Last updated by the study team

2025-08-28

Who can join

Age: 12 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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):
• proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
• Parents (no known HMBS mutations or heterozygote with familial mutation)
• First, second, or third degree relative of (a) or (b)

Where it is running

• Icahn School of Medicine at Mount Sinai — New York, New York, United States (enrolling)

Full record on ClinicalTrials.gov

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