Identifying genes that affect Acute Intermittent Porphyria
Identification of Acute Intermittent Porphyria Modifying Genes
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 |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT05502133 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 12 and older who are symptomatic or have a family history of Acute Intermittent Porphyria.
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.
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 performed: While the approach of identifying genetic factors in AIP is not widely tested, similar genetic studies in other conditions have shown promising results.
Eligibility criteria
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 this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.