Clinical trials: Genetic Liver Disorder
Alpha-1 Antitrypsin Deficiency
A Phase 1b/2a, Open-label Single Ascending Doses and Multiple Ascending Doses Study in Participants With Pi*ZZ AATD
The purpose of this open-label study is to assess the safety, tolerability, pharmacodynamics, and pharmacokinetics of WVE-006 in participants with alpha-1 antitrypsin deficiency (AATD) following Period 1 single ascending dose…
- Trial name
- NCT06405633
- Testing
- WVE-006
- Where
- 9 sites in Australia, Canada and 4 more
- Volunteers
- 48 people
- Sponsor
- Wave Life Sciences USA, Inc.
Alpha 1-Antitrypsin Deficiency
Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with alpha-1 antitrypsin deficiency associated liver…
- Trial name
- NCT03946449
- Testing
- ARO-AAT
- Where
- 4 sites in Austria, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- Arrowhead Pharmaceuticals
Hepatocellular Carcinoma
Pharmacogenetic Study in Hepatocellular Carcinoma Patients.
evaluate the prognostic value of genetic polymorphisms in HCC Egyptian patients undergoing TACE using lipiodol and doxorubicin.
- Trial name
- NCT05291338
- Testing
- Doxorubicin, Lipiodol
- Where
- Egypt
- Volunteers
- 107 people
- Sponsor
- Rehab Werida
Alpha 1-antitrypsin Deficiency (AATD)
Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.
To define the course of AATD-associated liver disease. To use the obtained samples for biomedical research which includes: 1. Search for serum-based disease biomarkers and the associated molecular pathways. 2.
- Trial name
- NCT07639996
- Testing
- Multi-omic spatial analysis
- Volunteers
- 45 people
- Sponsor
- Assiut University
Wilsons Disease
A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)
This study adopted an open, single-arm, non-randomized, dose-escalation research design, aiming to evaluate the safety, tolerability, preliminary efficacy, pharmacokinetic and immunogenicity characteristics of single and multiple…
- Trial name
- NCT07240896
- Testing
- Group 1: DSL101 Low dose, Group 2: DSL101 Medium dose, Group 3: DSL101 High dose
- Where
- China
- Volunteers
- 18 people
- Sponsor
- DSciLab Co., Ltd.
Adenocarcinoma, Adenocystic Carcinoma
The Registry of Oncology Outcomes Associated With Testing and Treatment
This study is to collect and validate regulatory-grade real-world data (RWD) in oncology using the novel, Master Observational Trial construct. This data can be then used in real-world evidence (RWE) generation.
- Conditions
- Adenocarcinoma, Adenocystic Carcinoma, Anal Cancer, Appendix Cancer
- Trial name
- ROOT (NCT04028479)
- Testing
- Biomarker Testing (L), Systemic Treatment (T), Patient Reported Outcomes (P)
- Where
- 2 sites in United States
- Volunteers
- 167 people
- Sponsor
- Taproot Health
Postural Orthostatic Tachycardia Syndrome, Acute Hepatic Porphyria
Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Postural Tachycardia Syndrome (POTS) is the most common autonomic disorder and is estimated to affect 3,000,000 individuals in the United States, with 80-85% of patients being women.
- Trial name
- NCT05344599
- Testing
- Autonomic Function Testing, Genetic Testing, Urine Testing
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Vanderbilt University Medical Center
Liver Diseases
Genetic Collection Protocol
This study involves the one-time collection of whole blood or saliva samples for the extraction and storage of DNA for use in ongoing and future ChiLDReN studies.
- Trial name
- NCT05272319
- Where
- 13 sites in United States, Canada
- Volunteers
- 171 people
- Sponsor
- Arbor Research Collaborative for Health
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.
Primary Sclerosing Cholangitis (PSC)
Genomics of Primary Sclerosing Cholangitis (PSC)
Primary Sclerosing Cholangitis (PSC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play…
- Trial name
- NCT01161992
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Mayo Clinic
Hepatitis C, Hemophilia
Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection
Hemophilic patients are a known high risk groups for acquiring the hepatitis C. The surveillance data from Ministry Of Health in IR.Iran had shown that 60% of them are infected with HCV infection.
- Trial name
- NCT00707772
- Testing
- PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
- Where
- Iran
- Volunteers
- 400 people
- Sponsor
- Baqiyatallah Medical Sciences University
Wilson Disease
Natural History of Wilson Disease
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD).
- Trial name
- NCT03334292
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 300 people
- Sponsor
- Yale University
Acute Intermittent Porphyria
A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP)
The purpose of this study is to evaluate the safety and tolerability of givosiran (ALN-AS1) in AIP patients as well as to characterize pharmacokinetics (PK) and pharmacodynamics (PD) of ALN-AS1 in AIP patients.
- Trial name
- NCT02452372
- Testing
- givosiran (ALN-AS1), Sterile Normal Saline (0.9% NaCl)
- Where
- 6 sites in United States, Sweden and 1 more
- Volunteers
- 40 people
- Sponsor
- Alnylam Pharmaceuticals
Wilson Disease
Study of Retinal Vascular Parameters in Patients With Wilson's Disease
The rare disease reference center " Wilson disease and other rare copper-related diseases" of the Rothschild Foundation follows a large number of patients with Wilson's with varying degrees of impairment and located at different…
- Trial name
- WILLY (NCT04408300)
- Testing
- Ophthalmological exam
- Where
- France
- Volunteers
- 124 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Pulmonary Tuberculosis, Tuberculosis Diagnosis
Diagnostic Accuracy of CAD4TB and C-reactive Protein Assay as Triage Tests for Pulmonary Tuberculosis
In the TB TRIAGE+ ACCURACY study, the accuracy of the following products will be determined: CAD4TB (Delft Imaging System, NL), a digital chest x-ray analysis software Afinion CRP assay (Alere Afinion, USA), which detects a…
- Conditions
- Pulmonary Tuberculosis, Tuberculosis Diagnosis, Covid-19, HIV
- Trial name
- TB TRIAGE+ (NCT04666311)
- Testing
- Accuracy of CAD4TB and Afinion CRP assay for pulmonary TB, CAD4COVID+WBC and COVID-19 RDT for SARS-CoV-2 infection
- Where
- 2 sites in Lesotho, South Africa
- Volunteers
- 1,400 people
- Sponsor
- Klaus Reither
Emphysema, Alpha 1-proteinase Inhibitor Deficiency
Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency.
This study is a continuation of the placebo-controlled study CE1226_4001 (NCT00261833) to evaluate the efficacy and safety of Zemaira® intravenous (i.v).
- Trial name
- NCT00670007
- Testing
- Alpha1- proteinase inhibitor [human]
- Where
- 21 sites in Australia, Canada and 9 more
- Volunteers
- 140 people
- Sponsor
- CSL Behring
Adult Rhabdomyosarcoma, Adult Synovial Sarcoma
Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors
This phase II trial is studying the side effects and how well cixutumumab works in treating patients with relapsed or refractory solid tumors. Monoclonal antibodies, such as cixutumumab, can block tumor growth in different ways.
- Conditions
- Adult Rhabdomyosarcoma, Adult Synovial Sarcoma, Childhood Hepatoblastoma, Childhood Synovial Sarcoma
- Trial name
- NCT00831844
- Testing
- cixutumumab, laboratory biomarker analysis
- Where
- 105 sites in United States, Australia and 1 more
- Volunteers
- 116 people
- Sponsor
- National Cancer Institute (NCI)
Emphysema or COPD, Aneurysm
The Effects of Discontinuation of Vitamin K Antagonists on the Rate of Elastin Degradation
Background: Elastin is a unique protein providing elasticity, resilience and deformability to dynamic tissues, such as lungs and vasculature. Elastin fibers are characterized by their high affinity for calcium.
- Conditions
- Emphysema or COPD, Aneurysm, Cystic Fibrosis, Alpha 1-Antitrypsin Deficiency
- Trial name
- NCT03285100
- Testing
- Venipuncture
- Where
- Netherlands
- Volunteers
- 30 people
- Sponsor
- Canisius-Wilhelmina Hospital
Alpha-1 Antitrypsin Deficiency
A Phase 1, First-in-human Study of VX-668
The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics (PK) of VX-668 at various doses.
- Trial name
- NCT05727800
- Testing
- VX-668
- Where
- 5 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cholesteryl Ester Storage Disease
National Lysosomal Acid Lipase Deficiency Study
Cholesteryl Ester Storage Disease (CESD) is an autosomal recessive lysosomal storage disorder (LSD) caused by mutations in the lysosomal acid lipase gene (LIPA) that markedly reduce lysosomal acid lipase (LAL) activity, leading…
- Trial name
- LAL-D (NCT02372513)
- Where
- Turkey (Türkiye)
- Volunteers
- 810 people
- Sponsor
- Ankara University