Identification of Acute Intermittent Porphyria Modifying Genes

Recruiting

• Conditions: Acute Intermittent Porphyria (AIP)

• Registration Number: NCT05502133
• Lead Sponsor: Icahn School of Medicine at Mount Sinai

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-08-04
• Study First Submitted QC: 2022-08-12
• Study First Posted: 2022-08-16
• Study Start: 2022-09-23
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-12
• Last Update Posted: 2025-02-14
• Primary Completion: 2025-06
• Study Completion: 2025-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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)

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Odds ratios (OR) of the effects of identified modifier genes/variants	Day 1	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)

Trial Locations

Locations (1)

Icahn School of Medicine at Mount Sinai; 🇺🇸 New York, New York, United States