Hunting the hidden genes that decide who gets porphyria attacks
NCT ID NCT05502133
First seen Sep 10, 2026 · Last updated Sep 11, 2026 · Updated 1 time
Summary
Acute intermittent porphyria (AIP) is an inherited disorder that can cause sudden, severe attacks, but not everyone who carries the gene gets sick. Researchers at Mount Sinai are collecting blood, saliva, and urine samples from about 150 people in AIP families, including affected and unaffected relatives. They will compare DNA to look for modifier genes that may protect some people or make others more likely to have attacks.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If researchers find modifier genes, this could improve genetic counseling for families with acute intermittent porphyria and point toward new ways to prevent attacks.
- What could go wrong
- This is an exploratory genetic study with no treatment being tested. It may not find clear modifier genes, and any findings would need years of further research before they could help patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
About 150 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Sep 2022
- Expected to finish
-
Jun 2029
An estimate. End dates often move.
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.
- Ages
-
12 years and older
- Sex
-
Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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)
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Acute intermittent porphyria (AIP) are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
-
The places running it
1 site. The list below names each one and where it is.
-
The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
-
A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
-
Icahn School of Medicine at Mount Sinai
RECRUITINGNew York, New York, 10029, United States