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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the genetic factors that may influence acute attacks in people with Acute Intermittent Porphyria (AIP), a hereditary disorder affecting heme production. The study aims to identify specific genes that may increase or decrease the risk of these attacks in symptomatic patients. This observational study is sponsored by the Icahn School of Medicine at Mount Sinai. Participants include symptomatic patients with AIP who have experienced acute attacks, as well as their family members who carry AIP mutations or are related to affected individuals. The study involves collecting blood, saliva, and urine samples along with clinical information to analyze genetic variants. There are no treatments or interventions being tested, as this study focuses on genetic observation. During the study, participants provide biological samples and medical history for analysis. Researchers will measure the odds ratios of how identified modifier genes or variants affect the occurrence of acute attacks. The study involves ongoing data collection and genetic analysis until June 2026. Participation requires informed consent and willingness to provide samples and information.
CONDITIONS
Brief 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
- Member of an AIP family as defined by: (1) symptomatic proband with AIP pathogenic mutation; (2) parents with no known HMBS mutations or heterozygote with familial mutation; (3) first, second, or third degree relative of (1) or (2)
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
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants provide blood, saliva, and urine samples along with clinical information for genetic analysis.
1 visit (in-person)
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
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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