Clinical trials: Genetic Liver Disorder
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
Wilson Disease
Early Access Program for ALXN1840 in Patients With Wilson Disease
This is an open-label, single-arm, multi-center EAP, designed to provide early access to ALXN1840 for eligible patients with WD.
- Trial name
- NCT05686564
- Testing
- ALXN1840
- Sponsor
- Alexion Pharmaceuticals, Inc.
Wilson's Disease
A Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease
The objectives of this clinical trial are to assess, for up to 5 years, the safety, tolerability and pharmacological activity of a single ascending doses of VTX-801, a gene therapy, administered intravenously (IV) to adult…
- Trial name
- GATEWAY (NCT04537377)
- Testing
- VTX-801
- Where
- 10 sites in United States, Denmark and 2 more
- Volunteers
- 4 people
- Sponsor
- Vivet Therapeutics SAS
Alpha1-antitrypsin Deficiency
Aralast alpha1-proteinase Inhibitor Surveillance Study
The primary objectives of this Phase 4, open label, prospective U.S. surveillance study are to evaluate the health outcomes of Alpha 1-Antitrypsin (AAT)-deficient subjects who are initiating treatment with ARALAST on…
- Trial name
- NCT00313144
- Testing
- ARALAST Alpha1-Proteinase Inhibitor
- Where
- United States
- Volunteers
- 127 people
- Sponsor
- Baxalta now part of Shire
Wilson Disease
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation…
- Trial name
- NCT03403205
- Testing
- ALXN1840, SoC Therapy
- Where
- 56 sites in United States, Australia and 20 more
- Volunteers
- 214 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Wilson Disease
Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease
This is a multicenter, randomized, open-label study with an active standard-of-care comparator (penicillamine)
- Trial name
- NCT03539952
- Testing
- Penicillamine (D1-W12), TETA 4HCL (W12-60), Penicillamine (W12-W60)
- Where
- 15 sites in United States, Belgium and 7 more
- Volunteers
- 77 people
- Sponsor
- Orphalan
Alpha 1-Antitrypsin Deficiency
An Extension Study of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATLD)
This is a Phase 2, multicenter, open-label extension of Study DCR-A1AT-201, designed to evaluate the long-term safety and further characterize the pharmacodynamics (PD) of belcesiran in adult patients with PiZZ AATLD.
- Trial name
- NCT05146882
- Testing
- Belcesiran
- Where
- New Zealand
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Melanoma, Non-small Cell Lung Cancer
A Study of CDX-1140 (CD40) as Monotherapy or in Combination in Patients With Advanced Malignancies
This is a study to determine the maximum tolerated dose (MTD) for CDX-1140 (CD40 antibody), either alone or in combination with CDX-301 (FLT3L), pembrolizumab, or chemotherapy and to further evaluate its tolerability and efficacy…
- Conditions
- Melanoma, Non-small Cell Lung Cancer, Breast Cancer, Gastric Cancer
- Trial name
- NCT03329950
- Testing
- CDX-1140, CDX-301, pembrolizumab
- Where
- 11 sites in United States
- Volunteers
- 132 people
- Sponsor
- Celldex Therapeutics
Hemoglobinopathies, Myelodysplastic Syndromes
Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
This study will evaluate the change in cardiac iron load over a 53 week period measured by MRI in 2 cohorts of patients
- Conditions
- Hemoglobinopathies, Myelodysplastic Syndromes, Other Inherited or Acquired Anaemia, MPD Syndrome
- Trial name
- NCT00673608
- Testing
- deferasirox
- Where
- 4 sites in Australia
- Volunteers
- 118 people
- Sponsor
- Novartis
Splenomegaly, Hepatomegaly
Biomarker for Gaucher Disease: BioGaucher (BioGaucher)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)
- Trial name
- BioGaucher (NCT01331642)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Thalassemia, Non-transfusional-dependent Thalassemia (NTDT), Myeloplastic Dysplasia (MDS), Other Anemia
An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study)
Iron, one of the most common elements in nature and the most abundant transition metal in the body, is readily capable of accepting and donating electrons.
- Trial name
- NCT01736540
- Testing
- MRI scan
- Where
- 13 sites in Australia
- Volunteers
- 243 people
- Sponsor
- Novartis Pharmaceuticals
Alpha 1-Antitrypsin Deficiency
Phase III, Efficacy and Safety of "Kamada-AAT for Inhalation"
The goal of this clinical trial is to learn if AAT for inhalation, at a dose of 80 mg/day can slow the progression of lung disease in people who have lung disease caused by severe genetic deficiency in Alpha 1 Antitrypsin (AATD).
- Trial name
- InnovAATe (NCT04204252)
- Testing
- Alpha 1-Antitrypsin
- Where
- 9 sites in Belgium, Finland and 4 more
- Volunteers
- 98 people
- Sponsor
- Kamada, Ltd.
Wilson's Disease
Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients.
The goal of this clinical trial is to learn if a new trientine tetrahydrochloride (TETA 4HCl) formulation administered once a day compared to d-Penicillamine (DPA) as a first line treatment for people living with Wilson's disease…
- Trial name
- TRADITiONAL (NCT07465718)
- Testing
- TETA 4HCl formulation, D-Penicillamine
- Where
- 10 sites in United States, China and 2 more
- Volunteers
- 38 people
- Sponsor
- Orphalan
Advanced Cancer
A Study of LY3200882 and Pembrolizumab in Participants With Advanced Cancer
The main purpose of this study is to see if the drug LY3200882 which is an inhibitor of transforming growth factor-β (TGFβ) receptor 1 in combination with pembrolizumab is safe and effective in participants with cancer that has…
- Trial name
- NCT04158700
- Testing
- LY3200882, Pembrolizumab
- Where
- 6 sites in United States, France and 1 more
- Sponsor
- Eli Lilly and Company
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)
Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria
The purpose of this study is to investigate the efficacy and safety of MT-7117 on sunlight exposure duration without symptoms and tolerance in subjects with EPP.
- Trial name
- NCT03520036
- Testing
- MT-7117 low dose, MT-7117 high dose
- Where
- 9 sites in United States
- Volunteers
- 102 people
- Sponsor
- Tanabe Pharma America, 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
Alpha-1 Antitrypsin Deficiency
A Study to Evaluate Efficacy and Safety of VX-864 in Participants With the PiZZ Genotype
The purpose of this study evaluates the efficacy and safety of VX-864 in participants with the PiZZ genotype over 48 weeks.
- Trial name
- NCT05643495
- Testing
- VX-864
- Where
- 13 sites in United States, Germany and 2 more
- Volunteers
- 14 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hemophilia B
Safety of a New Type of Treatment Called Gene Transfer for the Treatment of Severe Hemophilia B
In this study a modified virus called adeno-associated virus (AAV) will be used to transfer a normal gene for human clotting factor IX into patients with severe hemophilia B (AAV human Factor IX vector).
- Trial name
- NCT00076557
- Testing
- Adeno-Associated Viral with Human Factor IX
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Avigen
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.