Identification of Acute Intermittent Porphyria Modifying Genes

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.

Recruiting

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Key information

Conditions

Acute Intermittent Porphyria (AIP) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Liver Diseases Metabolic Diseases Nutritional and Metabolic Diseases Porphyria, Acute Intermittent Porphyrias Porphyrias, Hepatic Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Icahn School of Medicine at Mount Sinai

New York, 10029, United States

Location status: Recruiting

Location contact

Chloe Cheung

CONTACT

[email protected]

646-369-2045

Robert J Desnick

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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):

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)

Treatment and study plan

Primary outcomes

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

Time frame: 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)

Study contacts

Contact information is provided by the study sponsor or research team.

Chloe Cheung

CONTACT

[email protected]

646-369-2045

Sponsors and collaborators

Lead sponsor

Icahn School of Medicine at Mount Sinai

Other

Registry information

Important dates

Study start: 2022
Primary completion: 2026
Study completion: 2026
First posted: Aug 16, 2022
Registry last updated: Aug 28, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed