Recruiting

Observational StudyLongitudinal Study of the Porphyrias

Sponsor:

The American Porphyrias Expert Collaborative

Code:

NCT01561157

Conditions

Acute Porphyrias

Cutaneous Porphyrias

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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

Acute Porphyrias

Cutaneous Porphyrias

Study ID

NCT01561157

Start date

Nov 1, 2010

Status verified date

May, 2026

Completion date

Jun 30, 2030

Anticipated

Primary completion date

Jun 30, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Arms

Acute Intermittent Porphyria (AIP)

Patients with a documented diagnosis of AIP

Hereditary Coproporphyria (HCP)

Patients with a documented diagnosis of HCP

Variegate Porphyria (VP)

Patients with a documented diagnosis of VP

Congenital Erythropoietic Porphyria (CEP)

Patients with a documented diagnosis of CEP

Hepatoerythropoietic Porphyria (HEP)

Patients with a documented diagnosis of HEP

Porphyria Cutanea Tarda (PCT)

Patients with a documented diagnosis of PCT

Erythropoietic Protoporphyria (EPP)

Patients with a documented diagnosis of EPP

X-Linked Protoporphyria (XLP)

Patients with a documented diagnosis of XLP

Aminolevulinate-Dehydratase Deficiency Porphyria (ALAD, ADP)

Patients with a documented diagnosis of ALAD, ADP

Homozygous Dominant Acute Hepatic Porphyria

Patients with a documented diagnosis of Homozygous Dominant AHP

Primary outcome measure

clinical analysis [ Time Frame: baseline ]
Laboratory analysis [ Time Frame: baseline ]

Central Contacts and Locations

Central contacts

Kristen P Wheeden, DrPH

301-461-9889 kristen@porphyria.org

Locations

University of Alabama, Birmingham

Recruiting

Birmingham, Alabama, United States, 35294

Contacts

Angelina Johnson, RN

205-934-0498 angeliagjohnson@uabmc.edu

Principal Investigator:

Brendan McGuire, MD

University of California, San Francisco

Recruiting

San Francisco, California, United States, 94143

Contacts

Alana Sur

alana.sur@ucsf.edu

Principal Investigator:

Bruce Wang, MD

University of Miami

Recruiting

Miami, Florida, United States, 33136

Contacts

Lourdes Olson

malourdeso@med.miami.edu

Diane Sabogal

d.sabogal@med.miami.edu

Principal Investigator:

Cynthia Levy, MD

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Diondra Howard

howar709@umn.edu

Kimberly Dehn

hughe048@umn.edu

Principal Investigator:

Marshall Mazepa, MD

Icahn School of Medicine at Mount Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Alyne Restrepo

929-626-1096 alyne.restrepo@mssm.edu

Principal Investigator:

Manisha Balwani, MD, MS

Wake Forest University Health Sciences

Recruiting

Winston-Salem, North Carolina, United States, 27106

Contacts

Denise Faust

336-713-1442 delannin@wakehealth.edu

Principal Investigator:

Sean Rudnick, MD

Cleveland Clinic

Recruiting

Cleveland, Ohio, United States, 44195

Contacts

Angelika Erwin, MD, PhD

erwina@ccf.org

Gretchen LaRusch

laruscg@ccf.org

Principal Investigator:

Angelika Erwin, MD, PhD

Thomas Jefferson University

Recruiting

Philadelphia, Pennsylvania, United States, 19107

Contacts

Manisha Verma

Manisha.Verma@jefferson.edu

Principal Investigator:

Manish Thapar, MD

University of Texas Medical Branch

Recruiting

Galveston, Texas, United States, 77555

Contacts

Csilla Hallberg, MD

409-772-6287 challberg@utmb.edu

Principal Investigator:

Karl E. Anderson, MD

University of Utah

Recruiting

Salt Lake City, Utah, United States, 84132

Contacts

Hina Yazdani

801-587-2506 hina.yazdani@hsc.edu

Principal Investigator:

John Phillips, PhD

University of Washington

Recruiting

Seattle, Washington, United States, 98195

Contacts

Eva Gill

egill2@fredhutch.org

Principal Investigator:

Sioban Keel, MD

More Information

Sponsor

The American Porphyrias Expert Collaborative

Last update posted

May 15, 2026

Last verified

May, 2026

Keywords

porphyria
acute intermittent
coproporphyria
variegate
erythropoietic
protoporphyria
hepatoerythropoietic
cutanea tarda
AIP
HCP
VP
ADP
ALAD
PCT
HEP
CEP
EPP
XLP
homozygous dominant
acute hepatic
AHP

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by The American Porphyrias Expert Collaborative on 2026-05-15.