Actively Recruiting
Identification of Acute Intermittent Porphyria Modifying Genes
Led by Icahn School of Medicine at Mount Sinai · Updated on 2025-08-28
150
Participants Needed
1
Research Sites
192 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Identification of Acute Intermittent Porphyria Modifying Genes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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)
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
Research Team
C
Chloe Cheung
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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