Identification of Acute Intermittent Porphyria Modifying Genes

Description

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.

Conditions

Acute Intermittent Porphyria (AIP)

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Study Overview

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Study Details

Study 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.

Identification of Acute Intermittent Porphyria Modifying Genes

Identification of Acute Intermittent Porphyria Modifying Genes

Condition
Acute Intermittent Porphyria (AIP)
Intervention / Treatment

-

Contacts and Locations

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)

Ages Eligible for Study

12 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Icahn School of Medicine at Mount Sinai,

Robert J Desnick, Ph.D, MD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Study Record Dates

2024-12