Identification of Acute Intermittent Porphyria Modifying Genes
Recruiting
Observational Study
Acute Intermittent Porphyria (AIP)
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 12 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- Icahn School of Medicine at Mount Sinai · Other
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About This Trial
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.
Trial Locations
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Eligibility 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 …
Contacts