Longitudinal Study of the Porphyrias
2 other identifiers
observational
1,500
1 country
15
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Nov 2010
Longer than P75 for all trials
15 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
November 1, 2010
CompletedFirst Submitted
Initial submission to the registry
February 13, 2012
CompletedFirst Posted
Study publicly available on registry
March 22, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 30, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 30, 2030
January 15, 2026
January 1, 2026
19.7 years
February 13, 2012
January 13, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
clinical analysis
To develop disease severity scores to describe the combined frequency and severity of disease manifestations, utilizing linear mixed effects models \& stratification by age of onset.
baseline
Laboratory analysis
To evaluate porphyrin and porphyrin precursor levels alone or by genotype and porphyria subtype
baseline
Secondary Outcomes (2)
Relationship between disease severity and biomarkers
baseline
Effectiveness and tolerability of currently used and new therapies for the human porphyrias
baseline
Study Arms (10)
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
Eligibility Criteria
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
You may qualify if:
- Individuals with a documented diagnosis of a porphyria.
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (15)
University of Alabama, Birmingham
Birmingham, Alabama, 35294, United States
University of California, Los Angeles
Los Angeles, California, 90095, United States
University of California, San Francisco
San Francisco, California, 94143, United States
University of Miami
Miami, Florida, 33136, United States
University of Illinois at Chicago
Chicago, Illinois, 60637, United States
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
University of Minnesota
Minneapolis, Minnesota, 55455, United States
Icahn School of Medicine at Mount Sinai
New York, New York, 10029, United States
Carolinas Medical Center and HealthCare System
Charlotte, North Carolina, 28203, United States
Wake Forest University Health Sciences
Winston-Salem, North Carolina, 27106, United States
Cleveland Clinic
Cleveland, Ohio, 44195, United States
Thomas Jefferson University
Philadelphia, Pennsylvania, 19107, United States
University of Texas Medical Branch
Galveston, Texas, 77555, United States
University of Utah
Salt Lake City, Utah, 84132, United States
University of Washington
Seattle, Washington, 98195, United States
Related Publications (4)
Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. JAMA Dermatol. 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557.
PMID: 28614581RESULTSaberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology. 2021 May;73(5):1736-1746. doi: 10.1002/hep.31460. Epub 2020 Dec 11.
PMID: 32681675RESULTLevy C, Naik H, Overbey J, Hedstrom K, Wang K, McDonough C, Freeman M, Keel SB, Erwin AL, Dickey AK, Leaf RK, Quigley J, Mazepa M, Wang B, Phillips J, Parker C, McGuire B, Kazamel M, Bonkovsky H, Rudnick S, Anderson KE, Moghe A, Thapar M, Saberi B, Wheeden K, Desnick R, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. Hepatol Commun. 2025 Feb 19;9(3):e0657. doi: 10.1097/HC9.0000000000000657. eCollection 2025 Mar 1.
PMID: 39969427RESULTBonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10.
PMID: 25016127DERIVED
Related Links
Biospecimen
whole blood, plasma/serum, red blood cells, urine, tissue, DNA
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Manisha C Balwani, MD
Icahn School of Medicine at Mount Sinai
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor
Study Record Dates
First Submitted
February 13, 2012
First Posted
March 22, 2012
Study Start
November 1, 2010
Primary Completion (Estimated)
June 30, 2030
Study Completion (Estimated)
June 30, 2030
Last Updated
January 15, 2026
Record last verified: 2026-01