RecruitingNot Applicable

Identification of Acute Intermittent Porphyria Modifying Genes

United States150 participantsStarted 2022-09-23

Plain-language summary

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.

Who can participate

Age range12 Years

SexALL

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Inclusion criteria

✓. 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)

What they're measuring

Odds ratios (OR) of the effects of identified modifier genes/variants

Timeframe: Day 1

Trial details

NCT IDNCT05502133

SponsorIcahn School of Medicine at Mount Sinai

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-06

Contact for this trial

Chloe Cheung

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

View on ClinicalTrials.gov More Acute Intermittent Porphyria (AIP) trials