Acute Intermittent Porphyria (AIP)
Conditions
Brief 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.
Interventions
None listed
Sponsors
Icahn School of Medicine at Mount Sinai
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Odds ratios (OR) of the effects of identified modifier genes/variants | Day 1 | There are no primary and secondary endpoints. This is an exploratory genetic study. Exploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants. (If putative predisposing or protective gene variants are identified) |
Countries
United States
Contacts
CONTACTChloe Cheung
PRINCIPAL_INVESTIGATORRobert J Desnick, Ph.D, MD
Icahn School of Medicine at Mount Sinai
Outcome results
None listed