Identification of Acute Intermittent Porphyria Modifying Genes
NCT ID: NCT05502133
Last Updated: 2025-08-28
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
150 participants
OBSERVATIONAL
2022-09-23
2026-06-30
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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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.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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)
12 Years
ALL
No
Sponsors
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Icahn School of Medicine at Mount Sinai
OTHER
Responsible Party
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Robert Desnick
Dean for Genetics and Genomic Medicine Emeritus, Professor and Chair Emeritus
Principal Investigators
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Robert J Desnick, Ph.D, MD
Role: PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Locations
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Icahn School of Medicine at Mount Sinai
New York, New York, United States
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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GCO 18-1800
Identifier Type: -
Identifier Source: org_study_id
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