Identification of Acute Intermittent Porphyria Modifying Genes
Part of paid clinical trials in New York, New York.
- Sponsor
- Icahn School of Medicine at Mount Sinai
- Study ID
- NCT05502133
- Status
- Recruiting
Conditions
- Acute Intermittent Porphyria (AIP)
Eligibility Criteria
- Sex
- ALL
- Age
- 12 Years - N/A
- Healthy Volunteers
- Not accepted
Study Details
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.
Key Dates
- Start date
- Sep 23, 2022
- Status verified
- Aug 2025
- Primary completion
- Jun 30, 2026
- Completion
- Jun 30, 2026
Study Design
- Enrollment
- 150 participants (estimated)
Arms
- Arm: 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.
Primary Outcome Measure
Odds ratios (OR) of the effects of identified modifier genes/variants [ Time Frame: Day 1 ]
Central Contacts
- Chloe Cheung646-369-2045
Locations (1)
| Facility | City | State | ZIP | Site coordinators |
|---|---|---|---|---|
| Icahn School of Medicine at Mount Sinai | New York | New York | 10029 | Robert J Desnick (PRINCIPAL_INVESTIGATOR) |
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