Identification of Acute Intermittent Porphyria Modifying Genes
Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 12
Healthy Volunteers: f
View:
• 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):
‣ proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
⁃ Parents (no known HMBS mutations or heterozygote with familial mutation)
⁃ First, second, or third degree relative of (a) or (b)
Locations
United States
New York
Icahn School of Medicine at Mount Sinai
RECRUITING
New York
Contact Information
Primary
Chloe Cheung
chloeyihang.cheung@mssm.edu
646-369-2045
Time Frame
Start Date: 2022-09-23
Estimated Completion Date: 2025-06
Participants
Target number of participants: 150
Treatments
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.
Related Therapeutic Areas
Sponsors
Leads: Icahn School of Medicine at Mount Sinai