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Identification of Acute Intermittent Porphyria Modifying Genes

RECRUITINGSponsored by Icahn School of Medicine at Mount Sinai
Actively Recruiting
SponsorIcahn School of Medicine at Mount Sinai
Started2022-09-23
Est. completion2026-06
Eligibility
Age12 Years+
Healthy vol.Accepted
Locations1 site
View on ClinicalTrials.gov →

NCT05502133

Summary

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.

Eligibility

Age: 12 Years+Healthy volunteers accepted
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)

Conditions2

Acute Intermittent Porphyria (AIP)Liver Disease

Locations1 site

Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Chloe Cheung646-369-2045chloeyihang.cheung@mssm.edu

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