Clinical Trials on Hereditary Orotic Aciduria

Total 5792 results

Massachusetts Eye and Ear Infirmary

Recruiting

Assessment of Corneal Endothelial Function Following Hypoxic Stress

Fuchs' Endothelial Corneal Dystrophy

United States
Konstantinos Dean Arnaoutakis, MD

Recruiting

PMEG for Repair of Pararenal and Thoracoabdominal Aortic Aneurysm

Thoracoabdominal Aortic Aneurysm | Pararenal Aortic Aneurysm

United States
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
Dana-Farber Cancer Institute
Johns Hopkins University; M.D. Anderson Cancer Center; Mayo Clinic; University... and other collaborators

Active, not recruiting

GENetic Education Risk Assessment and TEsting Study (GENERATE)

Candidates for Hereditary Pancreatic Cancer Testing

United States
University of Utah

Completed

Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy

Macular Dystrophy, Corneal

United States
National Eye Institute (NEI)
Bausch & Lomb Incorporated; Eye Bank Association of America; Midwest Eye Banks; Tissue Banks International and other collaborators

Completed

Cornea Donor Study (CDS)

Corneal Disease | Fuch's Dystrophy | Pseudophakic Corneal Edema

United States
Lifetech Scientific (Shenzhen) Co., Ltd.

Recruiting

Thoracoabdominal Aortic Stent System for Endovascular Treatment of Thoracoabdominal Aortic Dissecting Aneurysm.

Thoracoabdominal; Aortic, Aneurysm, Dissecting

China
Karolinska University Hospital

Enrolling by invitation

Prospective Aortic Biobank of POP-STAR

Aneurysm | Aortic Aneurysm | Abdominal Aortic Aneurysm, Ruptured | Aneurysm Abdominal | Abdominal Aortic Aneurysm Without Rupture

Sweden
Ospedale San Raffaele

Recruiting

Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1

Wolfram Syndrome

Italy
Washington University School of Medicine

Enrolling by invitation

I-Tracking Neurodegeneration in Early Wolfram Syndrome (I-TRACK)

Wolfram Syndrome

United States
Medtronic Cardiovascular

Completed

VALOR: The Talent Thoracic Stent Graft System Clinical Study (VALOR)

Thoracic Aortic Aneurysms

United States
Changhai Hospital

Unknown

Safety and Efficacy of Multiple Overlapping Uncovered Stents for Pararenal Aortic Aneurysm Repair (SEMPER)

Aortic Aneurysm, Abdominal | Aortic Aneurysm | Aortic Aneurysm, Thoracic | Aortic Aneurysm, Thoracoabdominal

China
Medstar Health Research Institute

Recruiting

Physician-modified Endovascular Graft for Repair of Complex Thoracoabdominal and Abdominal Aortic Aneurysms

Juxtarenal Aortic Aneurysm | Suprarenal Aortic Aneurysm | Thoracoabdominal Aortic Aneurysm

United States
Centre d'Etude des Cellules Souches
Genethon

Recruiting

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome (AUDIOWOLF)

Wolfram Syndrome

France, Spain
Amylyx Pharmaceuticals Inc.

Active, not recruiting

AMX0035 in Adult Patients With Wolfram Syndrome

Wolfram Syndrome

United States
Medtronic Cardiovascular

Completed

The Pivotal Study of the Aptus Endovascular AAA Repair System (STAPLE-2)

Abdominal Aortic Aneurysms (AAA)

United States
Vascutek Ltd.

Terminated

The Vascutek Custom Fenestrated Anaconda Post-Market Surveillance Study

Abdominal Aortic Aneurysms (AAA)

United Kingdom, Netherlands, Switzerland, Spain, Germany, Belgium, Sweden, Canada, France, Italy, Austria, Monaco
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
Seung-Jung Park
CardioVascular Research Foundation, Korea

Terminated

Evaluation of Effectiveness and Safety of Evolut R Valve In Patients With Pure Aortic Regurgitation (Pure AR TAVR)

Aortic Regurgitation | Aortic Valve Insufficiency | Regurgitation, Aortic Valve | Aortic Valve | Aortic Incompetence

Korea, Republic of
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
Beth Israel Deaconess Medical Center

Recruiting

Safety and Efficacy of Endovascular Repair of Complex Aortic Pathology With Physician-modified Endovascular Grafts (PMEGs)

Aortic Dissection | Abdominal Aortic Aneurysm | Thoracoabdominal Aortic Aneurysm

United States
Cook Research Incorporated

Completed

Zenith TX2® Post-market Approval Study (TX2 2PAS)

Descending Thoracic Aortic Aneurysm

United States, Canada
IRCCS San Raffaele

Completed

Anatomical Feasibility of the Off-the-shelf E-nside Multibranch Stent Graft System for Thoracoabdominal and Para-renal Aortic Aneurysms.(E-nside Study) (E-nside)

Aortic Aneurysm, Thoracoabdominal | Para-renal Aortic Aneurysms

Italy
University of Alabama at Birmingham
Cook Group Incorporated

Recruiting

Evaluation of the Cook Custom Aortic Endograft, the Zenith t-Branch Endovascular Graft, and Surgeon-Modified Endograft in Treating Aortic Pathologies

Juxtarenal Aortic Aneurysm | Suprarenal Aortic Aneurysm | Thoracoabdominal Aortic Aneurysm | Penetrating Aortic Ulcer

United States
China National Center for Cardiovascular Diseases

Active, not recruiting

Concave Supra-arch Branched Stent-Graft System for Treatment of Aortic Arch Diseases

Aortic Dissection | Aortic Intramural Hematoma | Aneurysm, Aortic Arch | Aortic Pseudoaneurysm | Aortic Ulcer, Penetrating

China
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
Uppsala University

Not yet recruiting

Automated Carbon Dioxide Angiography in Fenestrated/Branched Endovascular Abdominal Aortic Aneurysm Repair

Thoracoabdominal Aortic Aneurysm
Endologix

Active, not recruiting

Chimney EndoVascular Aneurysm Sealing Of New Expanded Indication (ChEVAS One)

1 Paravisceral Abdominal Aortic Aneurysm | 2 Juxtarenal Abdominal Aortic Aneurysm | 3 Pararenal Abdominal Aortic Aneurysm | 4 Complex Abdominal Aortic Aneurysms

United States
Southeast Clinical Research Associates, LLC
Genentech, Inc.

Completed

Efficacy of Biweekly Ranibizumab (0.5 mg) for Exudative Macular Degeneration Retinal Edema Refractory to Anti-VEGF

Exudative Age Related Macular Degeneration

United States
University of North Carolina, Chapel Hill
Cook Group Incorporated; UNC Hospitals

Enrolling by invitation

Evaluation of Visceral Function Following Endovascular Aortic Aneurysm Repair Using Branched Stent- Grafts

Aortic Aneurysm, Abdominal | Aortic Arch Aneurysm | Ascending Aorta Aneurysm

United States
University of Thessaly

Not yet recruiting

Coagulation Factors Alterations in Patients Undergoing Complex Thoraco-abdominal Aortic Aneurysm Repair (CoFA-TAAA)

Platelet Activation | Thoraco-abdominal Aortic Aneurysm Repair | Coagulation Factors Alterations

Greece
Fuji Systems Corporation
Avania

Active, not recruiting

Clinical Investigation of Clinical Safety and Performance of the SP-GRIPFLOW, Selective Cerebral Perfusion Catheter When Used for Cerebral Perfusion During Aortic Arch Repair

Aortic Aneurysm | Aortic Dissection | Aortic Arch Aneurysm | Aortic Arch; Aneurysm, Dissecting

Germany, Netherlands
Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium

Clinical Trials on Hereditary Orotic Aciduria

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mongolia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations