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Scientists launch Largest-Ever porphyria watch: 1,500 patients tracked for clues

NCT ID NCT01561157

Knowledge-focused Sponsor: The American Porphyrias Expert Collaborative Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treatments or drugs are being tested.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,500 people

The number the study aims to enrol. It can still change while the study runs.

Started

Nov 2010

Expected to finish

Jun 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Subjects will be recruited from the following resources: 1. Patients followed by one of the Investigators 2. United Porphyrias Association (UPA) 3. Non-study Physician referrals 4. Self-referrals, including family members of individuals diagnosed with Porphyria (proband) and other individuals who may have heard about the study from other subjects or prospective subjects. 5. Medical Records Review

Ages

1 minute and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 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. Exclusion Criteria: * 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.

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Conditions

The condition(s) this trial relates to.

acute intermittent porphyria Coproporphyria cutaneous porphyria erythropoietic protoporphyria hepatic porphyria porphyria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Acute porphyrias Cutaneous porphyrias

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    15 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Carolinas Medical Center and HealthCare System

    TERMINATED

    Charlotte, North Carolina, 28203, United States

  • Cleveland Clinic

    RECRUITING

    Cleveland, Ohio, 44195, United States

  • Icahn School of Medicine at Mount Sinai

    RECRUITING

    New York, New York, 10029, United States

  • Massachusetts General Hospital

    NOT_YET_RECRUITING

    Boston, Massachusetts, 02114, United States

  • Thomas Jefferson University

    RECRUITING

    Philadelphia, Pennsylvania, 19107, United States

  • University of Alabama, Birmingham

    RECRUITING

    Birmingham, Alabama, 35294, United States

  • University of California, Los Angeles

    NOT_YET_RECRUITING

    Los Angeles, California, 90095, United States

  • University of California, San Francisco

    RECRUITING

    San Francisco, California, 94143, United States

  • University of Illinois at Chicago

    NOT_YET_RECRUITING

    Chicago, Illinois, 60637, United States

  • University of Miami

    RECRUITING

    Miami, Florida, 33136, United States

  • University of Minnesota

    RECRUITING

    Minneapolis, Minnesota, 55455, United States

  • University of Texas Health Science Center at Houston

    NOT_YET_RECRUITING

    Houston, Texas, 77030, United States

  • University of Texas Medical Branch

    RECRUITING

    Galveston, Texas, 77555, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84132, United States

  • University of Washington

    RECRUITING

    Seattle, Washington, 98195, United States

  • Wake Forest University Health Sciences

    RECRUITING

    Winston-Salem, North Carolina, 27106, United States