Actively Recruiting

Age: 1Minute +
All Genders
ID01561157

Longitudinal Study of the Porphyrias

Led by The American Porphyrias Expert Collaborative · Updated on 2026-05-15

1500

Participants Needed

16

Research Sites

N/A

Total Duration

On this page

Sponsors

T

The American Porphyrias Expert Collaborative

Lead Sponsor

N

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Collaborating Sponsor

AI-Summary

What this Trial Is About

This research aims to study a group of rare metabolic diseases called porphyrias, which can appear in childhood or adulthood due to enzyme deficiencies affecting heme production. These diseases often cause acute neurological attacks or skin sensitivity to light. Because diagnosis is often delayed and the natural course of these diseases is not well understood, the study seeks to better understand disease progression, complications, pregnancy outcomes, and mortality, as well as the effects of current treatments and the development of new therapies. The study includes patients with confirmed diagnoses of various types of porphyrias, such as Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria, and others. It is a long-term observational study conducted by a consortium of academic centers funded by the NIH. Participants are grouped based on their specific porphyria diagnosis and will be followed over time to collect clinical, biochemical, and genetic data. Participants will provide information through clinical evaluations and laboratory tests, including biochemical and genetic studies, at baseline and throughout the study. Researchers will assess disease severity, biomarkers, and treatment effectiveness and tolerability. The study monitors participants over an extended period to gather detailed information about the natural history and outcomes associated with porphyrias. This may include gathering data on complications and pregnancy outcomes. The total participation duration varies by individual.

CONDITIONS

Brief Title

Longitudinal Study of the Porphyrias

Who Can Participate

Age: 1Minute +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Individuals with a documented diagnosis of a porphyria.
  • Biochemical evidence of porphyria from laboratory reports after 1980.
  • Molecular confirmation of a mutation in a porphyria-related gene.
  • Willingness of the individual or guardian to provide written informed consent or assent.
  • Relatives without symptoms but with biochemical or molecular evidence of porphyria may also enroll.
Not Eligible

You will not qualify if you...

  • Elevations of porphyrins due to other diseases such as liver or bone marrow disorders.
  • Patients with a prior porphyria diagnosis that cannot be confirmed by medical records or repeat testing.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 10 years

Participants with documented porphyria diagnoses are observed over time to understand the natural history, complications, and therapeutic outcomes of their condition.

Periodic visits over the study duration

Trial Site Locations

Total: 16 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

Not Yet Recruiting

6

Massachusetts General Hospital

Boston, Massachusetts, United States, 02114

Not Yet 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

Actively 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 Texas Health Science Center at Houston

Houston, Texas, United States, 77030

Not Yet Recruiting

15

University of Utah

Salt Lake City, Utah, United States, 84132

Actively Recruiting

16

University of Washington

Seattle, Washington, United States, 98195

Actively Recruiting

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Research Team

K

Kristen P Wheeden, DrPH

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

Frequently Asked Questions

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Published Research Related To This Trial

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

Manisha Balwani, Hetanshi Naik, Karl E Anderson...

https://pubmed.ncbi.nlm.nih.gov/28614581

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.

Behnam Saberi, Hetanshi Naik, Jessica R Overbey...

https://pubmed.ncbi.nlm.nih.gov/32681675