Longitudinal Study of the Porphyrias

Recruiting now

Conditions studied: Acute Porphyrias, Cutaneous Porphyrias

In brief

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.

Key facts

Study ID

NCT01561157

Run by

The American Porphyrias Expert Collaborative

People needed

1500

Starts

2010-11-01

Expected to finish

2030-06-30

Last updated by the study team

2026-05-15

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals with a documented diagnosis of a porphyria.
• For each type of porphyria, the inclusion criteria are based on
• Biochemical findings, as documented by laboratory reports (or copies) of porphyria-specific testing performed after 1980 (Absolute values are preferred for diagnostic biochemical thresholds. Fold increases in comparison to an upper (or lower) limit of normal (ULN or LLN) are also acceptable, but are complicated by considerable variation between laboratories in normal limits. Equivocal biochemical measurements may require confirmation by a consortium reference laboratory;)
• molecular findings documenting the identification of a mutation in a porphyria-related gene.
• In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate.
• Provision is made for enrolling relatives who may not have symptoms but have biochemical or molecular documentation of a porphyria, or in the case of recessive disorders carry a disease-related mutation.

You may not qualify if…

• Cases with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases;
• Patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.

Where it is running

• University of Alabama, Birmingham — Birmingham, Alabama, United States (enrolling)
• Cleveland Clinic — Cleveland, Ohio, United States (enrolling)
• Thomas Jefferson University — Philadelphia, Pennsylvania, United States (enrolling)
• University of Texas Medical Branch — Galveston, Texas, United States (enrolling)
• University of Utah — Salt Lake City, Utah, United States (enrolling)
• University of Washington — Seattle, Washington, United States (enrolling)
• University of California, San Francisco — San Francisco, California, United States (enrolling)
• University of Miami — Miami, Florida, United States (enrolling)
• University of Minnesota — Minneapolis, Minnesota, United States (enrolling)
• Icahn School of Medicine at Mount Sinai — New York, New York, United States (enrolling)
• Wake Forest University Health Sciences — Winston-Salem, North Carolina, United States (enrolling)
• University of California, Los Angeles — Los Angeles, California, United States
• Carolinas Medical Center and HealthCare System — Charlotte, North Carolina, United States
• University of Texas Health Science Center at Houston — Houston, Texas, United States
• University of Illinois at Chicago — Chicago, Illinois, United States
• Massachusetts General Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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