Clinical trials: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria
Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)
Afamelanotide is a man-made drug being studied for use as a preventative medication for EPP sufferers. It is a synthetically produced analogue of human alpha melanocyte stimulating hormone (alpha-MSH) and is not yet available on…
- Trial name
- NCT00979745
- Testing
- Afamelanotide
- Where
- 8 sites in Finland, France and 4 more
- Volunteers
- 74 people
- Sponsor
- Clinuvel Pharmaceuticals Limited
Acute Porphyrias, Cutaneous Porphyrias
Longitudinal Study of the Porphyrias
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 name
- NCT01561157
- Where
- 16 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- The American Porphyrias Expert Collaborative
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
Expanded Access Program of Bitopertin For Participants With EPP or XLP
The goal of this expanded access program is to provide bitopertin to patients with EPP and XLP who have no satisfactory treatment options available in the US and to learn if bitopertin is safe to treat EPP and XLP.
- Trial name
- NCT07603401
- Testing
- DISC-1459
- Where
- 7 sites in United States
- Sponsor
- Disc Medicine, Inc
Erythropoietic Protoporphyria
HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP
This is an open-label, long-term extension study to investigate the safety, tolerability and efficacy of DISC-1459 in participants with EPP.
- Trial name
- NCT05883748
- Testing
- DISC-1459
- Where
- 26 sites in United States, Australia and 9 more
- Volunteers
- 230 people
- Sponsor
- Disc Medicine, Inc
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
A Study to Investigate PORT-77 Oral Dosing Compared With Placebo in Participants With Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP)
PATHWAY is a Phase 2b/3 clinical study with an Open-Label Extension (OLE). It tests PORT-77 in patients with EPP, EPP2, and XLP.
- Conditions
- Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP), EPP2
- Trial name
- PATHWAY (NCT07820085)
- Testing
- PORT-77
- Where
- 2 sites in United States
- Volunteers
- 225 people
- Sponsor
- Portal Therapeutics, Inc.
Erythropoietic Protoporphyria
Phase III Confirmatory Study in Erythropoietic Protoporphyria
This is a randomized placebo-controlled study to be conducted in two parallel study arms for a six month period (three doses). Between 75 and 100 eligible patients will be enrolled.
- Trial name
- NCT01605136
- Testing
- Afamelanotide
- Where
- 7 sites in United States
- Volunteers
- 93 people
- Sponsor
- Clinuvel Pharmaceuticals Limited
EPP, XLP
Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
To evaluate the long-term safety and tolerability of oral dersimelagon.
- Trial name
- NCT05005975
- Testing
- MT-7117
- Where
- 45 sites in United States, Australia and 13 more
- Volunteers
- 286 people
- Sponsor
- Tanabe Pharma America, Inc.
Erythropoietic Protoporphyria
Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP
This is a Phase 2, multi-center, double-blind, placebo-controlled, parallel group study of bitopertin to evaluate the safety, tolerability, efficacy, and PPIX concentration change in participants with EPP.
- Trial name
- NCT05308472
- Testing
- DISC-1459
- Where
- 9 sites in United States
- Volunteers
- 75 people
- Sponsor
- Disc Medicine, Inc
Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment.
- Trial name
- stEPP (NCT07567131)
- Where
- 19 sites in United States, Belgium and 7 more
- Volunteers
- 50 people
- Sponsor
- Portal Therapeutics, Inc.
Erythropoietic Protoporphyria (EPP)
Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
The purpose of this study is to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). People with EPP have skin sensitivity to sunlight and occasionally develop liver disease.
- Trial name
- NCT01880983
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Alabama at Birmingham
Erythropoietic Protoporphyria, EPP
Oral Iron for Erythropoietic Protoporphyrias
In the medical literature there are conflicting reports on whether iron improves symptoms in patients with EPP and XLP. Giving iron to people who are iron deficient is thought to improve EPP symptoms.
- Conditions
- Erythropoietic Protoporphyria, EPP, X-linked Protoporphyria, XLP
- Trial name
- EPP (NCT02979249)
- Testing
- Oral Iron
- Where
- 6 sites in United States
- Volunteers
- 16 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Erythropoietic Protoporphyria
Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria
OBJECTIVES: I. Determine the long-term efficacy and safety of L-cysteine in the prevention photosensitivity in patients with erythropoietic protoporphyria.
- Trial name
- NCT00004940
- Testing
- cysteine hydrochloride
- Volunteers
- 50 people
- Sponsor
- Brigham and Women's Hospital
Erythropoietic Protoporphyria
Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria
Background: Erythropoietic protoporphyria (EPP) is characterized by development of painful skin symptoms upon exposure to visible light dye to accumulation of the photoactive substance protoporphyrin IX (PpIX) in the skin.This…
- Trial name
- NCT03682731
- Where
- 2 sites in Denmark
- Volunteers
- 14 people
- Sponsor
- Bispebjerg Hospital
Erythropoietic Protoporphyria (EPP), X Linked Erythropoietic Protoporphyria
Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria
In erythropoietic protoporphyria there is an accumulation of protoporphyrin IX (PPIX) in the plasma and liver. The reason it builds up is either the last step to make heme, insertion of iron into PPIX, is rate limiting or there…
- Trial name
- INHEPP (NCT01550705)
- Testing
- Isoniazid
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Utah
Erythropoietic Protoporphyria, EPP
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and…
- Conditions
- Erythropoietic Protoporphyria, EPP, X-Linked Protoporphyria, XLP
- Trial name
- NCT01688895
- Where
- 6 sites in United States
- Volunteers
- 150 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Erythropoietic Protoporphyria
A Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP)
The main objectives of the study were to evaluate the safety and tolerability of afamelanotide by measuring treatment emergent adverse events (AEs) and to determine whether afamelanotide can improve the quality of life of EPP…
- Trial name
- NCT04578496
- Testing
- Afamelanotide
- Volunteers
- 16 people
- Sponsor
- Clinuvel Pharmaceuticals Limited
EPP, XLP
Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria or X-Linked Protoporphyria
The primary objective of this study is to investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and…
- Trial name
- NCT04402489
- Testing
- MT-7117 Low Dose, MT-7117 High Dose
- Where
- 31 sites in United States, Australia and 8 more
- Volunteers
- 184 people
- Sponsor
- Tanabe Pharma America, Inc.
Erythropoietic Protoporphyria, X-linked Protoporphyria
Effect of Oral Cimetidine in the Protoporphyrias
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) result from genetic defects of heme biosynthesis that cause life-long, painful cutaneous sensitivity to light.
- Trial name
- NCT05020184
- Testing
- Cimetidine
- Where
- 3 sites in United States
- Volunteers
- 26 people
- Sponsor
- Amy K. Dickey, M.D.
Protoporphyria
Effect of Bitopertin on the Liver and on Levels of Protoporphyrin IX in Bile, Blood, Liver, and Stool in Patients With Erythropoietic Protoporphyria/X-linked Protoporphyria and Increased Liver Stiffness and/or Liver Enzymes at Baseline
The primary goal of this study is to assess safety and tolerability of bitopertin in subjects with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) and evidence of compensated liver disease.
- Trial name
- NCT07123363
- Testing
- bitopertin
- Sponsor
- Wake Forest University Health Sciences
Erythropoietic Protoporphyria (EPP)
GATEWAY: A Phase 2a Study of PORT-77 in Adults With Erythropoietic Protoporphyria
A Phase 2a study of PORT-77 in adults with erythropoietic protoporphyria (EPP)
- Trial name
- EPP (NCT06971900)
- Testing
- PORT-77
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Portal Therapeutics, Inc.