Identification of Acute Intermittent Porphyria Modifying Genes

Acute Intermittent Porphyria (AIP) Clinical Trial

Official title:

Identification of Acute Intermittent Porphyria Modifying Genes

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05502133
• Other study ID #: GCO 18-1800
• Status: Recruiting
• Start date: September 23, 2022
• Est. completion date: December 2024

Study information

• Verified date: March 2024
• Source: Icahn School of Medicine at Mount Sinai
• Contact: Chloe Cheung
• Phone: 646-369-2045
• Email: chloeyihang.cheung[@]mssm.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Acute Intermittent Porphyria (AIP)
• Porphyria, Acute Intermittent
• Porphyria, Erythropoietic
• Porphyrias

Locations

Country	Name	City	State
United States	Icahn School of Medicine at Mount Sinai	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
Icahn School of Medicine at Mount Sinai

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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