Plain-English translation of NCT05502133 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
Acute intermittent porphyria (AIP) is a rare genetic condition that causes severe attacks. This study is looking for hidden genes that might explain why some people with the same mutation have more or worse attacks than others. Researchers hope that by studying blood and urine samples from people with AIP and their relatives, they can understand what makes the disease more or less severe.
Right now, doctors don't fully understand why two people carrying the same AIP gene can have very different symptoms — one might have frequent attacks while another barely has any. Finding these modifier genes could help doctors predict who will have worse disease and eventually lead to better treatments.
You likely qualify if…
You likely don't qualify if…
If you join this study, you'll be asked to donate blood, saliva, and urine samples. You'll also share information about your medical history and any acute attacks you've had. The researchers will analyze your samples to look for genes that influence how severe your porphyria is. Most of the study can likely be done at your local hospital or clinic.
AI-generated summary from trial data · Jul 2, 2026 · Not medical advice
United States
Enrollment target
~150 participants
Started
September 2022
Primary completion
June 2026
This trial's estimated completion date has passed — the record may not be fully up to date.
Age range
12 Years and older
Last updated on clinicaltrials.gov in August 2025.
Reach out to the team running this trial. Response times vary — some teams are faster than others.
Central contact
Chloe Cheung
Icahn School of Medicine at Mount Sinai
Tell us you're interested and we'll help connect you with the research team. We'll walk you through what to expect first — no email needed to get started.