Clinical Trials on Hereditary Tyrosinemia

Total 2648 results

BioCryst Pharmaceuticals

Completed

First-in-Human Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of BCX7353 in Healthy Western and Japanese Volunteers

Hereditary Angioedema

United Kingdom
Pharming Technologies B.V.

Completed

Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks

Hereditary Angioedema

United States, Bulgaria, Canada, Hungary, Israel, Italy, Macedonia, The Former Yugoslav Republic of, Poland, Romania, Serbia, South Africa
CSL Behring

Completed

C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study)

Hereditary Angioedema

United States, Canada
CSL Behring

Completed

Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks

Hereditary Angioedema

Bulgaria, United States, Poland, Spain, Hungary, United Kingdom, Russian Federation, Macedonia, The Former Yugoslav Republic of, Argentina, Australia, Canada, Czech Republic, Israel, Romania, Sweden
BioCryst Pharmaceuticals

Completed

Study to Determine How BCX4161 is Metabolized and Eliminated by the Body

Hereditary Angioedema

United Kingdom
Radboud University Medical Center
ZonMw: The Netherlands Organisation for Health Research and Development

Unknown

Implementation of a New Strategy to Identify HNPCC Patients

Colorectal Neoplasms | Hereditary Nonpolyposis Colorectal Cancer

Netherlands
Oslo University Hospital

Unknown

DSAEK- Postoperative Positioning and Transplant Dislocation

Corneal Dystrophies, Hereditary | Fuchs' Endothelial Dystrophy | Corneal Transplantation | Descemet Stripping Automated Endothelial Keratoplasty

Norway
University Hospital, Strasbourg, France

Terminated

Development of New Prenatal Diagnostic Tests From Maternal Blood

Hereditary Diseases

France
Michigan State University

Recruiting

Family Health Histories: Creating a Culturally Tailored Tool to Reduce Health Disparities in the Black Community (FHH)

Hereditary Diseases

United States
Children's Hospital of Fudan University

Recruiting

The China Neonatal Genomes Project (CNGP)

Genetic Predisposition to Disease | Newborn | Defect, Congenital | Hereditary Disease

China
University of Texas Southwestern Medical Center

Terminated

The Dallas Hereditary Spherocytosis Cohort Study

Hereditary Spherocytosis
Aalborg University Hospital
Aarhus University Hospital; ARCEDI Biotech

Completed

Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

Hereditary Diseases

Denmark
Centre Hospitalier Universitaire Dijon

Unknown

Genomic Screening for Hereditary Erythrocytosis and Related Diseases (GENRED)

Hereditary Erythrocytosis/Idiopathic Erythrocytosis

France
ProQR Therapeutics

Withdrawn

Study With QR-504a to Evaluate Safety, Tolerability & Corneal Endothelium Molecular Biomarker(s) in Subjects With FECD3 (Fuchs Focus)

Corneal Diseases | Fuchs Endothelial Corneal Dystrophy | FECD3 | LRS | Descemet's Membrane Disorder

United Kingdom
Singapore Eye Research Institute

Unknown

Safety and Efficacy of Tissue Engineered Endothelial Keratoplasty (TE-EK)

Fuchs' Endothelial Dystrophy | Bullous Keratopathy | Mild to Moderate Corneal Endothelial Decompensation | Post-surgical Corneal Decompensation (Irreversible)

Singapore
The Cleveland Clinic
National Eye Institute (NEI)

Completed

PIONEER: Intraoperative and Perioperative OCT Study (PIONEER)

Retinal Detachment | Epiretinal Membrane | Fuchs Endothelial Dystrophy | Macular Hole

United States
Murdoch Childrens Research Institute
Melbourne Health; Austin Health; Royal Brisbane and Women's Hospital; The University... and other collaborators

Completed

Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? (Mi-iron)

Hereditary Haemochromatosis

Australia
Massachusetts Eye and Ear Infirmary

Recruiting

Assessment of Corneal Endothelial Function Following Hypoxic Stress

Fuchs' Endothelial Corneal Dystrophy

United States
University Hospital, Antwerp
Belgium Health Care Knowledge Centre

Recruiting

The Belgian Endothelial Surgical Transplant of the Cornea (BESTCornea)

Corneal Edema | Fuchs' Endothelial Dystrophy | Bullous Keratopathy | Pseudophakic Bullous Keratopathy | Corneal Endothelial Disorder

Belgium
Massachusetts General Hospital
Harvard Medical School (HMS and HSDM)

Recruiting

A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia

Keratoconus | Ectasia | Fuchs' Endothelial Dystrophy | Crosslinking

United States
St George's, University of London

Terminated

Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome

Endometrial Cancer | Hereditary Non-polyposis Colon Cancer (hmsh2, hmlh1, hpms1, hpms2)

United Kingdom
Dr. Rebecca Schule
German Federal Ministry of Education and Research; German Center for Neurodegenerative...

Recruiting

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders (HSP-PBP)

Hereditary Spastic Paraplegia

Austria, Germany, Italy
Wageningen University
Dutch Cancer Society; Wereld Kanker Onderzoek Fonds; Funding: Biobanking and...

Recruiting

The GEOLynch Cohort Study (GEOLynch)

Neoplasms | Colorectal Neoplasms | Lynch Syndrome | Hereditary Nonpolyposis Colorectal Cancer

Netherlands
Istituto Ortopedico Rizzoli

Completed

Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Exostoses, Multiple Hereditary

Italy
BioCryst Pharmaceuticals

Completed

A Long Term Safety Study of BCX7353 in Hereditary Angioedema (APeX-S)

Hereditary Angioedema | Prophylaxis | HAE

Austria, Denmark, France, Germany, Hungary, Israel, Italy, North Macedonia, Poland, Switzerland, United Kingdom, United States, Australia, Hong Kong, Korea, Republic of, New Zealand, Serbia, Slovakia, South Africa, Spain
Pharming Technologies B.V.

Completed

A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration (OPERA)

Hereditary Angioedema | Genetic Disorders

Netherlands, Romania
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Genetic Disorders

Netherlands
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Hereditary Angioedema | Angioneurotic Edema

Netherlands
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Hereditary Angioedema | Genetic Disorders | Angioneurotic Edema

Netherlands, Romania
London North West Healthcare NHS Trust

Completed

Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance

Colorectal Neoplasms, Hereditary Nonpolyposis

United Kingdom
EDUARD PEDEMONTE-SARRIAS

Completed

Technique And Results In Endothelial Keratoplasty (TREK)

Fuchs' Endothelial Dystrophy | Corneal Endothelial Cell Loss

Spain
National Cancer Institute (NCI)

Completed

Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast Cancer

Breast Neoplasm | Hereditary Neoplastic Syndrome

United States
Fondation Ophtalmologique Adolphe de Rothschild

Recruiting

Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD (GEPHIRD)

Hereditary Retinal Dystrophies

France
Genomic Prediction Inc.

Active, not recruiting

Embryo Health Study (EHS)

Infertility | Hereditary Diseases

United States
University of California, San Francisco
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); University... and other collaborators

Completed

Clinical Diagnosis of Acute Porphyria

Acute Intermittent Porphyria (AIP) | Hereditary Coproporphyria (HCP) | Variegate Porphyria (VP)

United States
BioCryst Pharmaceuticals

Approved for marketing

Oral Berotralstat Expanded Access Program

Hereditary Angioedema | Prophylaxis | HAE
University Hospital, Grenoble

Terminated

Determination of Specific Biomarkers of Acute Attack of Angioedema Within Pediatric Population (BRADYKID)

Healthy Volunteers | Hereditary Angioedema

France
University Hospital Tuebingen

Completed

Physiotherapy in Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegia

Germany
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Genetic Disorders

Netherlands
University of British Columbia
Children's & Women's Health Centre of British Columbia; Vancouver Foundation; Circle of Care

Terminated

Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC

Exostoses, Multiple Hereditary

Canada
Weill Medical College of Cornell University
National Cancer Institute (NCI)

Recruiting

Discovering New Targets for Colorectal and Endometrial Cancer Risk Reduction

Colorectal Cancer | Endometrial Cancer | Hereditary Cancer Syndromes

United States
Assistance Publique - Hôpitaux de Paris

Completed

Identification of Modifying Factors in Hereditary Spastic Paraplegia (MODIFSPA2)

Hereditary Spastic Paraplegia

France
European University of Lefke

Completed

Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegia

Cyprus
University of British Columbia

Suspended

Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project

Exostoses, Multiple Hereditary

Canada
Radboud University Medical Center
Jacques and Gloria Gossweiler Foundation

Completed

Improving Gait Adaptability in Hereditary Spastic Paraplegia (Move-HSP)

Hereditary Spastic Paraplegia | Strumpell Disease

Netherlands
National Institute of Neurological Disorders and...

Terminated

Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31

Hereditary Spastic Paraplegia

United States
University of Campinas, Brazil
Conselho Nacional de Desenvolvimento Científico e Tecnológico; Cristália Produtos...

Completed

Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia (SPASTOX)

Hereditary Spastic Paraplegia

Brazil
National Human Genome Research Institute (NHGRI)

Completed

Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer

HNPCC | Hereditary Nonpolyposis Colon Cancer

United States
Penn State University

Withdrawn

C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation

Hereditary Angioedema
PYC Therapeutics

Recruiting

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

Retinitis Pigmentosa | Eye Diseases, Hereditary | Retinal Dystrophies | Retinal Dystrophy Rod | Retinal Dystrophy Rod Progressive

United States, Australia

Clinical Trials on Hereditary Tyrosinemia

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Gambia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

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