Recruiting

Genetic Testing

Sponsor:

Icahn School of Medicine at Mount Sinai

Code:

NCT05502133

Conditions

Acute Intermittent Porphyria (AIP)

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Acute Intermittent Porphyria (AIP)

Study ID

NCT05502133

Start date

Sep 23, 2022

Status verified date

Aug, 2025

Completion date

Jun, 2026

Anticipated

Primary completion date

Jun, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Not accepted

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)

Study Design

Enrollment

150 participants

Anticipated

Interventions and Outcome Measures

Arms

Acute Intermittent Porphyria (AIP)

Symptomatic patients with Acute Intermittent Porphyria (AIP)

A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.

Primary outcome measure

  • Odds ratios (OR) of the effects of identified modifier genes/variants [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Chloe Cheung

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

Locations

Icahn School of Medicine at Mount Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Chloe Cheung

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

Principal Investigator:

Robert J Desnick

More Information

Sponsor

Icahn School of Medicine at Mount Sinai

Last update posted

Aug 28, 2025

Last verified

Aug, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai on 2025-08-28.