Actively Recruiting
Longitudinal Study of the Porphyrias
Led by Icahn School of Medicine at Mount Sinai · Updated on 2026-01-15
1500
Participants Needed
15
Research Sites
1025 weeks
Total Duration
On this page
Sponsors
I
Icahn School of Medicine at Mount Sinai
Lead Sponsor
N
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborating Sponsor
AI-Summary
What this Trial Is About
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.
CONDITIONS
Official Title
Longitudinal Study of the Porphyrias
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with a documented diagnosis of a porphyria
- Biochemical evidence of porphyria based on laboratory reports after 1980
- Molecular evidence showing a mutation in a porphyria-related gene
- Willingness of the participant or parent/guardian to provide written informed consent or assent
- Relatives without symptoms but with biochemical or genetic documentation of porphyria may be enrolled
You will not qualify if you...
- Porphyrin elevations caused by other diseases such as liver or bone marrow disorders
- Patients with a porphyria diagnosis that cannot be confirmed by medical records or repeat biochemical or DNA testing
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 15 locations
1
University of Alabama, Birmingham
Birmingham, Alabama, United States, 35294
Actively Recruiting
2
University of California, Los Angeles
Los Angeles, California, United States, 90095
Not Yet Recruiting
3
University of California, San Francisco
San Francisco, California, United States, 94143
Actively Recruiting
4
University of Miami
Miami, Florida, United States, 33136
Actively Recruiting
5
University of Illinois at Chicago
Chicago, Illinois, United States, 60637
Actively Recruiting
6
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
7
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
8
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
9
Carolinas Medical Center and HealthCare System
Charlotte, North Carolina, United States, 28203
Terminated
10
Wake Forest University Health Sciences
Winston-Salem, North Carolina, United States, 27106
Actively Recruiting
11
Cleveland Clinic
Cleveland, Ohio, United States, 44195
Not Yet Recruiting
12
Thomas Jefferson University
Philadelphia, Pennsylvania, United States, 19107
Actively Recruiting
13
University of Texas Medical Branch
Galveston, Texas, United States, 77555
Actively Recruiting
14
University of Utah
Salt Lake City, Utah, United States, 84132
Actively Recruiting
15
University of Washington
Seattle, Washington, United States, 98195
Actively Recruiting
Research Team
M
Mary Freeman, MS, CGC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
10
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