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ClinicalTrials.gov public records Last synced Oct 11, 2026, 2:53 PM EDT

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Showing 25–41 of 41 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital Erythropoietic Porphyria (CEP) Clear all
Completed Phase 3 Interventional

Study of Bitopertin in Participants With EPP or XLP (APOLLO)

NCT06910358
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
Interventions
Placebo, DISC-1459
Drug
Lead sponsor
Disc Medicine, Inc
Industry
Eligibility
12 Years and older
Enrollment
183 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
11
States / cities
Huntington Beach, California • San Francisco, California • Miami, Florida + 7 more
Source: ClinicalTrials.gov public record
Updated Oct 9, 2026 · Synced Oct 11, 2026, 2:53 PM EDT
Completed No phase listed Observational

EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)

NCT02240784
View directory record Official record
Conditions
Acute Hepatic Porphyria
Interventions
Not listed
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
136 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2021
U.S. locations
8
States / cities
San Francisco, California • Miami, Florida • Ann Arbor, Michigan + 5 more
Source: ClinicalTrials.gov public record
Updated May 17, 2021 · Synced Oct 11, 2026, 2:53 PM 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 24, 2021 · Synced Oct 11, 2026, 2:53 PM EDT
Completed Phase 1Phase 2 Interventional Results available

A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP)

NCT02949830
View directory record Official record
Conditions
Acute Intermittent Porphyria
Interventions
Givosiran
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
3
States / cities
San Francisco, California • New York, New York • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 12, 2024 · Synced Oct 11, 2026, 2:53 PM EDT
Completed Phase 2 Interventional Results available

Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria

NCT02180412
View directory record Official record
Conditions
Acute Porphyrias
Interventions
Panhematin, Glucose
Biological · Other
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2022
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Apr 11, 2025 · Synced Oct 11, 2026, 2:53 PM EDT
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 – 2030
U.S. locations
13
States / cities
Birmingham, Alabama • Gilbert, Arizona • San Francisco, California + 10 more
Source: ClinicalTrials.gov public record
Updated Oct 6, 2026 · Synced Oct 11, 2026, 2:53 PM EDT
Completed Phase 2 Interventional Results available

Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)

NCT01097044
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
Afamelanotide, Placebo
Drug
Lead sponsor
Clinuvel Pharmaceuticals Limited
Industry
Eligibility
18 Years and older
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
6
States / cities
Birmingham, Alabama • San Francisco, California • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 28, 2019 · Synced Oct 11, 2026, 2:53 PM EDT
Terminated Phase 2 Interventional Results available

Panhematin for Prevention of Acute Attacks of Porphyria

NCT02922413
View directory record Official record
Conditions
Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria
Interventions
Hemin for injection, Placebo
Biological · Other
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 30, 2026 · Synced Oct 11, 2026, 2:53 PM EDT
Completed Not applicable Interventional Results available

Oral Iron for Erythropoietic Protoporphyrias

NCT02979249
View directory record Official record
Conditions
Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
Interventions
Oral Iron
Drug
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
6
States / cities
Birmingham, Alabama • San Francisco, California • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 11, 2020 · Synced Oct 11, 2026, 2:53 PM EDT
Recruiting No phase listed Observational

Longitudinal Study of the Porphyrias

NCT01561157
View directory record Official record
Conditions
Acute Porphyrias, Cutaneous Porphyrias
Interventions
Not listed
Lead sponsor
The American Porphyrias Expert Collaborative
Other
Eligibility
1 Minute and older
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
16
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 13 more
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 11, 2026, 2:53 PM 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 24, 2005 · Synced Oct 11, 2026, 2:53 PM 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 24, 2005 · Synced Oct 11, 2026, 2:53 PM EDT
Completed Phase 3 Interventional Results available

ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)

NCT03338816
View directory record Official record
Conditions
Acute Hepatic Porphyria, Acute Intermittent Porphyria, Porphyria, Acute Intermittent, Acute Porphyria, Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP)
Interventions
Givosiran, Placebo
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
10
States / cities
Little Rock, Arkansas • San Francisco, California • Boston, Massachusetts + 7 more
Source: ClinicalTrials.gov public record
Updated Apr 22, 2024 · Synced Oct 11, 2026, 2:53 PM 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 24, 2005 · Synced Oct 11, 2026, 2:53 PM EDT
Terminated Not applicable Interventional Results available

Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria

NCT01550705
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X Linked Erythropoietic Protoporphyria
Interventions
Isoniazid
Drug
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jan 16, 2017 · Synced Oct 11, 2026, 2:53 PM 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 9, 2018 · Synced Oct 11, 2026, 2:53 PM 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 12, 2026 · Synced Oct 11, 2026, 2:53 PM EDT