Identification of Acute Intermittent Porphyria Modifying Genes

NCT05502133 | Recruiting DMC

• 1 other identifier: GCO 18-1800
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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)

Outcome Measures

Primary Outcomes (1)

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

  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)

  Day 1

Study Arms (1)

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.

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• Willing and able to give informed consent
• 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)

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

MeSH Terms

Conditions

Porphyria, Acute Intermittent

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Porphyrias; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Robert J Desnick, Ph.D, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chloe Cheung

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dean for Genetics and Genomic Medicine Emeritus, Professor and Chair Emeritus

Study Record Dates

• First Submitted: August 4, 2022
• First Posted: August 16, 2022
• Study Start: September 23, 2022
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: August 28, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)