Acute PorphyriasNCT01561157
Longitudinal Study of the Porphyrias
An observational study of Acute Porphyrias and Cutaneous Porphyrias, run by The American Porphyrias Expert Collaborative at 16 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 minute and older
- Conditions the study is for
- Acute Porphyrias, Cutaneous Porphyrias
- How many people
- 1,500 participants
- Where
- 16 sitesUnited States
- Study dates
- 1 Nov 2010to 30 Jun 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 minute and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
16 sites in 1 country. Contact the study team or a site near you to ask about taking part.
16 sites in 1 country
United States16 sites, 15 recruiting
- Recruiting
University of Alabama, Birmingham
Birmingham, Alabama, 35294
Angelina Johnson, RN, 205-934-0498, angeliagjohnson@uabmc.edu
Brendan McGuire, MD
- Not yet recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Lina Rebeiz, lrebeiz@mgh.harvard.edu
Narmene Bensaber, nbensaber@mgh.harvard.edu
- Terminated
Carolinas Medical Center and HealthCare System
Charlotte, North Carolina, 28203
- Not yet recruiting
University of Illinois at Chicago
Chicago, Illinois, 60637
Erin Vidra, 312-996-7902, evidra@uic.edu
Sean Quigley, MD
- Recruiting
Cleveland Clinic
Cleveland, Ohio, 44195
Angelika Erwin, MD, PhD, erwina@ccf.org
Gretchen LaRusch, laruscg@ccf.org
- Recruiting
University of Texas Medical Branch
Galveston, Texas, 77555
Csilla Hallberg, MD, 409-772-6287, challberg@utmb.edu
Karl E. Anderson, MD
- Not yet recruiting
University of Texas Health Science Center at Houston
Houston, Texas, 77030
Akshata Moghe, MD, PhD
- Not yet recruiting
University of California, Los Angeles
Los Angeles, California, 90095
Simon Beaven, MD, PhD
- Recruiting
University of Miami
Miami, Florida, 33136
Lourdes Olson, malourdeso@med.miami.edu
Diane Sabogal, d.sabogal@med.miami.edu
- Recruiting
University of Minnesota
Minneapolis, Minnesota, 55455
Diondra Howard, howar709@umn.edu
Kimberly Dehn, hughe048@umn.edu
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Alyne Restrepo, 929-626-1096, alyne.restrepo@mssm.edu
Manisha Balwani, MD, MS
- Recruiting
Thomas Jefferson University
Philadelphia, Pennsylvania, 19107
Manisha Verma, Manisha.Verma@jefferson.edu
Manish Thapar, MD
- Recruiting
University of Utah
Salt Lake City, Utah, 84132
Hina Yazdani, 801-587-2506, hina.yazdani@hsc.edu
John Phillips, PhD
- Recruiting
University of California, San Francisco
San Francisco, California, 94143
Alana Sur, alana.sur@ucsf.edu
Bruce Wang, MD
- Recruiting
University of Washington
Seattle, Washington, 98195
Eva Gill, egill2@fredhutch.org
Sioban Keel, MD
- Recruiting
Wake Forest University Health Sciences
Winston-Salem, North Carolina, 27106
Denise Faust, 336-713-1442, delannin@wakehealth.edu
Sean Rudnick, MD
About this study
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.
Read the detailed description
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks, or cutaneous photosensitivity. Multiple mutations have been identified in each of the porphyrias. The risk of disability or death from these disorders is significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover, the natural history of these disorders is not well described and it is not known what determines differences in outcomes. New therapies are needed. For existing therapies, high-quality evidence on short and long term efficacy and safety is generally lacking. Therefore, the purpose of this long-term follow-up study of a large group of patients with the various porphyrias is to provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of treatment.
The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes and currently has funded several rare diseases clinical research consortia and one Data Management and Coordinating Center. The Porphyrias Consortium was created as part of the RDCRN, to study the human porphyrias. The Porphyrias Consortium is a consortium of the academic institutions listed in the participating institutions table. All Centers in the Porphyrias Consortium are participating in the Longitudinal Study of the Porphyrias. Additional centers may be added if funding is available.
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of specific porphyrias for clinical, biochemical, and genetic studies. The long-term objective is to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with acute and cutaneous porphyria.
- Conditions
- Acute Porphyrias, Cutaneous Porphyrias
- 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
- Medical subject headings
- Porphyria, Acute Intermittent, Porphyrias, Coproporphyria, Protoporphyria, Erythropoietic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: baseline
Laboratory analysis
To evaluate porphyrin and porphyrin precursor levels alone or by genotype and porphyria subtype
Measured: baseline
Secondary outcomes (2)
Relationship between disease severity and biomarkers
To develop longitudinal models that relate, for example, porphyrin and porphyrin precursor levels alone or in concert with age, genotype and other features to the disease manifestation frequency.
Measured: baseline
Effectiveness and tolerability of currently used and new therapies for the human porphyrias
Qualitative evaluation, using self-reporting questionnaires and clinical findings, and quantitative evaluation, using laboratory measures of organ function and porphyrin levels, to evaluate the effectiveness of therapies.
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2012 (estimated)
- Study start1 Nov 2010
- Primary completion30 Jun 2030 (estimated)
- Study completion30 Jun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Acute PorphyriasStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The American Porphyrias Expert Collaborative
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Hetanshi Naik, Stanford University
- Investigators
- Hetanshi Naik, PhD, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01561157
- Sponsor's protocol ID
- GCO 10-1102
- Other IDs
- U54DK083909
- Status last verified
- May 2026
- First submitted
- 13 Feb 2012
- Last updated
- 15 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 28614581Saberi 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.
PubMed 32681675Levy 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.
PubMed 39969427Bonkovsky 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.
PubMed 25016127
Study at a glance
From the registry record, last updated by the sponsor on 15 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Study of the Porphyrias
- ClinicalTrials.gov ID
- NCT01561157
- Acronym / sponsor ID
- GCO 10-1102
- Conditions
- Acute Porphyrias, Cutaneous Porphyrias
- Keywords
- porphyria, acute intermittent, coproporphyria, variegate, erythropoietic, protoporphyria, hepatoerythropoietic, cutanea tarda
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- The American Porphyrias Expert CollaborativeUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- 1 Nov 2010 (actual)
- Primary completion
- 30 Jun 2030 (estimated)
- Study completion
- 30 Jun 2030 (estimated)
- First posted
- 22 Mar 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks, or cutaneous photosensitivity. Multiple mutations have been identified in each of the porphyrias. The risk of disability or death from these disorders is significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover, the natural history of these disorders is not well described and it is not known what determines differences in outcomes. New therapies are needed. For existing therapies, high-quality evidence on short and long term efficacy and safety is generally lacking. Therefore, the purpose of this long-term follow-up study of a large group of patients with the various porphyrias is to provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of treatment.
The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes and currently has funded several rare diseases clinical research consortia and one Data Management and Coordinating Center. The Porphyrias Consortium was created as part of the RDCRN, to study the human porphyrias. The Porphyrias Consortium is a consortium of the academic institutions listed in the participating institutions table. All Centers in the Porphyrias Consortium are participating in the Longitudinal Study of the Porphyrias. Additional centers may be added if funding is available.
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of specific porphyrias for clinical, biochemical, and genetic studies. The long-term objective is to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with acute and cutaneous porphyria.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 10
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 1 minute and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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
Key inclusion criteria (6 listed)
- Individuals with a documented diagnosis of a porphyria.
- For each type of porphyria, the inclusion criteria are based on
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
clinical analysis
Time frame: baseline
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.
Laboratory analysis
Time frame: baseline
To evaluate porphyrin and porphyrin precursor levels alone or by genotype and porphyria subtype
2 secondary outcomes
Relationship between disease severity and biomarkers
Time frame: baseline
Effectiveness and tolerability of currently used and new therapies for the human porphyrias
Time frame: baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 May 2026.
- Results publication: PubMed 28614581Balwani 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.
- Results publication: PubMed 32681675Saberi 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.
- Results publication: PubMed 39969427Levy 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.
- Derived from this study: PubMed 25016127Bonkovsky 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.
- Website for the Rare Diseases Clinical Research Network (RDCRN) Porphyrias Consortium (PCLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Hetanshi Naik, PhD principal investigator
Stanford University
16 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acute Porphyrias and Cutaneous Porphyrias, run by The American Porphyrias Expert Collaborative at 16 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kristen P Wheeden, DrPH (301-461-9889, kristen@porphyria.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
clinical analysis (time frame: baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01561157, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 May 2026.