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Showing 25–40 of 16 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Congenital Erythropoietic Porphyria (CEP) Clear all
Recruiting No phase listed Observational

ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)

NCT04883905
View directory record Official record
Conditions
Acute Hepatic Porphyria
Interventions
Not listed
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
13
States / cities
Birmingham, Alabama • Gilbert, Arizona • San Francisco, California + 10 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2026 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 2Phase 3 Interventional Accepts healthy volunteers Results available

Sorbent Therapy of the Cutaneous Porphyrias

NCT01422915
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
Colestipol
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
22 Years to 60 Years
Enrollment
4 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 24, 2017 · Synced Jun 26, 2026, 9:27 AM EDT
Not listed No phase listed Observational

Studies in Porphyria I: Characterization of Enzyme Defects

NCT00004331
View directory record Official record
Conditions
Porphyria
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1992
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jun 26, 2026, 9:27 AM EDT
Enrolling by invitation Phase 2Phase 3 Interventional

HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP

NCT05883748
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
DISC-1459
Drug
Lead sponsor
Disc Medicine, Inc
Industry
Eligibility
12 Years and older
Enrollment
230 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
11
States / cities
Birmingham, Alabama • San Francisco, California • Miami, Florida + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Jun 26, 2026, 9:27 AM EDT
Completed No phase listed Observational

Study of the Pathogenesis of Porphyria Cutanea Tarda

NCT00005103
View directory record Official record
Conditions
Porphyria Cutanea Tarda
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 3 Interventional Results available

Phase III Confirmatory Study in Erythropoietic Protoporphyria

NCT01605136
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
Afamelanotide, Placebo
Drug
Lead sponsor
Clinuvel Pharmaceuticals Limited
Industry
Eligibility
18 Years and older
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
7
States / cities
Birmingham, Alabama • San Francisco, California • Detroit, Michigan + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 18, 2019 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 2 Interventional Results available

Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria

NCT03520036
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP)
Interventions
MT-7117 low dose, MT-7117 high dose, Placebo
Drug
Lead sponsor
Tanabe Pharma America, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
102 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
9
States / cities
Los Angeles, California • San Francisco, California • Miami, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Dec 30, 2025 · Synced Jun 26, 2026, 9:27 AM EDT
Terminated No phase listed Observational

INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

NCT03547297
View directory record Official record
Conditions
Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP), Porphyria Acute
Interventions
Not listed
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
16 Years and older
Enrollment
212 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
12
States / cities
Pasadena, California • Jacksonville, Florida • Margate, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 24, 2019 · Synced Jun 26, 2026, 9:27 AM EDT
Recruiting No phase listed Observational

Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)

NCT07567131
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Interventions
Not listed
Lead sponsor
Portal Therapeutics, Inc.
Industry
Eligibility
12 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
5
States / cities
Boston, Massachusetts • New York, New York • Wake Forest, North Carolina + 2 more
Source: ClinicalTrials.gov public record
Updated May 4, 2026 · Synced Jun 26, 2026, 9:27 AM EDT
Completed No phase listed Observational

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

NCT01880983
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP)
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
7 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2020
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Jun 23, 2021 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 2 Interventional

Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias

NCT00004396
View directory record Official record
Conditions
Porphyria
Interventions
heme arginate, tin mesoporphyrin
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
2
States / cities
New York, New York • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jun 26, 2026, 9:27 AM EDT
Active, not recruiting No phase listed Observational

Acute Porphyria Biomarkers for Disease Activity

NCT02935400
View directory record Official record
Conditions
Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria
Interventions
Hemin
Drug
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated May 11, 2026 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 3 Interventional Results available

Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda

NCT00599326
View directory record Official record
Conditions
Porphyria Cutanea Tarda
Interventions
Deferasirox
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 9, 2014 · Synced Jun 26, 2026, 9:27 AM EDT
Completed No phase listed Observational

Diagnostic and Screening Study of Genetic Disorders

NCT00006057
View directory record Official record
Conditions
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 2 Interventional Results available

Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP

NCT05308472
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
DISC-1459, Placebo
Drug
Lead sponsor
Disc Medicine, Inc
Industry
Eligibility
18 Years and older
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
9
States / cities
Birmingham, Alabama • San Francisco, California • Miami, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Jun 26, 2026, 9:27 AM EDT
Completed Phase 2Phase 3 Interventional

Porphozym in the Treatment of Acute Attacks in AIP

NCT00418795
View directory record Official record
Conditions
Acute Intermittent Porphyria
Interventions
recombinant human porphobilinogen deaminase (Porphozym)
Drug
Lead sponsor
Zymenex A/S
Industry
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 8, 2018 · Synced Jun 26, 2026, 9:27 AM EDT