Identification of Acute Intermittent Porphyria Modifying Genes

Launched by ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · Aug 12, 2022

Keywords

ClinConnect Summary

This clinical trial is looking to understand more about Acute Intermittent Porphyria (AIP), a rare genetic condition that can cause sudden and severe abdominal pain and other symptoms. The researchers want to identify specific genes that may influence whether someone with AIP experiences these acute attacks. By studying families affected by AIP, they hope to find out which genes might make some people more likely to have attacks and which ones might offer protection.

The trial is open to individuals aged 12 and older who are part of a family with AIP. To participate, you would need to be willing to provide blood, saliva, and urine samples, along with some health information. If you or a family member has had symptoms related to AIP, or if you have a family history of the condition, you might be eligible to join. Participants can expect to contribute to important research that could help improve understanding and treatment of AIP for current and future patients.

Gender

ALL

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)