Identification of Acute Intermittent Porphyria Modifying Genes

ID#: NCT05502133

Age: 12 years - 66+

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: September 23, 2022

End Date: June 01, 2026

Contact Information:
Chloe Cheung
646-369-2045
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:

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)
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