Identification of Acute Intermittent Porphyria Modifying Genes
Purpose
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.
Condition
- Acute Intermittent Porphyria (AIP)
Eligibility
- Eligible Ages
- Over 12 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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):
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)
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Acute Intermittent Porphyria (AIP) | Symptomatic patients with Acute Intermittent Porphyria (AIP) A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above. |
Recruiting Locations
New York, New York 10029
More Details
- Status
- Recruiting
- Sponsor
- Icahn School of Medicine at Mount Sinai