NCT05502133 Identification of Acute Intermittent Porphyria Modifying Genes
| NCT ID | NCT05502133 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Icahn School of Medicine at Mount Sinai |
| Condition | Acute Intermittent Porphyria (AIP) |
| Study Type | OBSERVATIONAL |
| Enrollment | 150 participants |
| Start Date | 2022-09-23 |
| Primary Completion | 2026-06 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 150 participants in total. It began in 2022-09-23 with a primary completion date of 2026-06.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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 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)
Contact & Investigator
Robert J Desnick, Ph.D, MD
PRINCIPAL INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Frequently Asked Questions
Who can join the NCT05502133 clinical trial?
This trial is open to participants of all sexes, aged 12 Years or older, studying Acute Intermittent Porphyria (AIP). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05502133 currently recruiting?
Yes, NCT05502133 is actively recruiting participants. Contact the research team at chloeyihang.cheung@mssm.edu for enrollment information.
Where is the NCT05502133 trial being conducted?
This trial is being conducted at New York, United States.
Who is sponsoring the NCT05502133 clinical trial?
NCT05502133 is sponsored by Icahn School of Medicine at Mount Sinai. The principal investigator is Robert J Desnick, Ph.D, MD at Icahn School of Medicine at Mount Sinai. The trial plans to enroll 150 participants.