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Recruiting NCT05502133

Identification of Acute Intermittent Porphyria Modifying Genes

— Observational Acute Intermittent Porphyria (AIP)

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

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗