Identifying genes that affect Acute Intermittent Porphyria
Official title: Identification of Acute Intermittent Porphyria Modifying Genes
Run by Icahn School of Medicine at Mount Sinai · NCT05502133 · Data updated 2026-11-12
This study is trying to find out which genes might make people more likely to have attacks of Acute Intermittent Porphyria or help protect them from it, and it's for anyone aged 12 and older who has symptoms or is related to someone with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 12 Years and up |
| Sex | All |
| Enrollment | 150 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Status | Recruiting |
| Started | September 23, 2022 |
| Main results expected | June 2029 |
| Study ends | June 2029 |
| Registry record updated | September 10, 2026 |
| Trial ID | NCT05502133 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals aged 12 and older who are symptomatic or have a family history of Acute Intermittent Porphyria.
✕Probably not a fit
Patients without a family history of AIP or those who do not meet the inclusion criteria may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to identify the genetic factors that may predispose or protect individuals from acute attacks of Acute Intermittent Porphyria (AIP), a genetic disorder affecting heme biosynthesis. Participants will include individuals aged 12 and older who are either symptomatic or related to someone with AIP. Blood, saliva, and urine samples will be collected along with clinical information to analyze the genetic modifications associated with the condition. The study focuses on understanding the genetic landscape of AIP to improve patient outcomes.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of Acute Intermittent Porphyria, potentially improving patient care and treatment options.
How similar studies have gone: While the approach of identifying genetic factors in AIP is not widely tested, similar genetic studies in other conditions have shown promising results.
Who can join: the full rules
Show full inclusion / exclusion criteria
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)
Where it's running
-
Icahn School of Medicine at Mount Sinai
New York, New York, United States Recruiting
Study contacts
- Principal investigator: Robert J Desnick, Ph.D, MD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Chloe Cheung
- Email: chloeyihang.cheung@mssm.edu
- Phone: 646-369-2045
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
PRP injection for female sexual function
This trial tests whether a patient’s own PRP injection into the front vaginal wall can improve sexual function in women with sexual dysfunction.
-
Dupilumab for Major Depressive Disorder
This study tests whether dupilumab can engage immune targets in adults with major depressive disorder to see if it can help with depressive symptoms.
-
Parkinson’s Risk in Gaucher Disease Type 1
This study tests how Parkinson’s risk relates to GBA1-related Gaucher disease in adults over 40, by collecting detailed clinical data and samples for future research.
-
Personalized Exercise Recommendations for Chronic Pelvic Pain
This study tests if an AI-powered, personalized exercise plan can help people with chronic pelvic pain see if tailored workouts work better than standard guidance.
-
Buprenorphine vs morphine for pain control after cesarean delivery
This study tests whether intrathecal buprenorphine provides better postcesarean pain relief than morphine for women undergoing a planned cesarean delivery.
-
SCC Deep Brain Stimulation for Bipolar Depression in Bipolar I Patients
A small study tests whether deep brain stimulation of the subcallosal cingulate can help people with bipolar I depression who have not improved with other treatments, while monitoring brain signals to watch for manic switches.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.