Recruiting NCT05502133
Identification of Acute Intermittent Porphyria Modifying Genes
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Acute Intermittent Porphyria (AIP). Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
Primary outcome measures
- Odds ratios (OR) of the effects of identified modifier genes/variants [Time frame: Day 1]
Eligibility 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):
- proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
- Parents (no known HMBS mutations or heterozygote with familial mutation)
- First, second, or third degree relative of (a) or (b)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Icahn School of Medicine at Mount Sinai — New York
Identifiers
NCT: NCT05502133 · GCO 18-1800