Clinical Trials on Single-Gene Defects

Total 7953 results

Aarhus University Hospital

Withdrawn

COVID-19 Prevalence and Cognitive Deficits in Neurological Patients (Neuro-Covid)

Stroke, Acute | Seizure Disorder | Neurological Diseases or Conditions

Denmark
Jerry Vockley, MD, PhD
Ultragenyx Pharmaceutical Inc

No longer available

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

Barth Syndrome | Mitochondrial Trifunctional Protein Deficiency | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency | Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) | Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency | Glycogen Storage Disorders | Pyruvate Carboxylase Deficiency... and other conditions

United States
Massachusetts General Hospital
Dana-Farber Cancer Institute

Recruiting

Infliximab for Treatment of Immune Checkpoint Inhibitor Colitis

Melanoma Stage IV | Melanoma Stage III | Drug Toxicity | Immune-related Adverse Event | Skin Cancer Stage III | Skin Cancer Stage IV | Drug-Induced Colitis

United States
OHSU Knight Cancer Institute
National Cancer Institute (NCI)

Terminated

Treating Patients With Recurrent PCNSL With Carboplatin/BBBD and Adding Rituxan To The Treatment Regimen

Lymphoma | Thrombocytopenia | Brain and Central Nervous System Tumors | Drug/Agent Toxicity by Tissue/Organ

United States
Giulio Stefanini
Agenzia Italiana del Farmaco

Active, not recruiting

Cardioprotective Effects of Nebivolol Versus Placebo in Patients Undergoing Chemotherapy With Anthracyclines (CONTROL)

Lymphoma, Large B-Cell, Diffuse | Breast Cancer | Chemotherapy Effect | Cardiotoxicity | Left Ventricular Dysfunction

Italy
Lawson Health Research Institute
Canadian Institutes of Health Research (CIHR)

Unknown

Detecting Radiation-Induced Cardiac Toxicity After Non-Small Cell Lung Cancer Radiotherapy (RICT-LUNG)

Non-small Cell Lung Cancer | Radiation Toxicity

Canada
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France

Withdrawn

Pre Hospital Evaluation of Video Laryngoscopy (EVE)

Shock | Trauma, Nervous System | Cardiac Arrest | Respiratory Distress Syndrome | Drug Toxicity | Acute Post-trauma Stress State
Silesian Centre for Heart Diseases
Medical Research Agency, Poland

Not yet recruiting

Sacubitril/Valsartan in PriMAry preventIoN of the Cardiotoxicity of Systematic breaST canceR trEAtMent (MAINSTREAM)

Heart Failure | Breast Cancer | Breast Diseases | Cardiotoxicity | Molecular Mechanisms of Pharmacological Action | Angiotensin Receptor Antagonists | Neoplasm, Breast | Cardiac Toxicity | Angiotensin II Type 1 Receptor Blockers | Cancer, Therapy-Related | Antihypertensive Agents | Sacubitril/Valsartan | Cancer...

Poland
Ciusss de L'Est de l'Île de Montréal
Covid-19 Early Treatment Fund

Not yet recruiting

Cyproheptadine in Severe COVID-19 : A Unblinded Randomized Trial

Serotonin Syndrome | Platelet Dysfunction | Viral Pneumonia
Pfizer

Withdrawn

A Study of Adverse Events and Suspected Adverse Drug Reactions in Patients Under Apixaban for Prevention of Stroke and Systemic Embolism With Non-Valvular Atrial Fibrillation and Venous Thromboembolic Events in Patients Who Have Undergone Elective Hip or Knee Replacement Surgery

Pulmonary Embolism | Cerebral Stroke | Thrombosis, Deep Vein
Genelex Corporation
Harding University

Completed

Pharmacogenetic Testing Among Home Health Patients

Drug Interaction Potentiation | Adverse Drug Events | Adverse Drug Reactions | Poor Metabolizer Due to Cytochrome P450 CYP2C9 Variant | Poor Metabolizer Due to Cytochrome p450 CYP2C19 Variant | Drug Metabolism, Poor, CYP2D6-RELATED | Drug Metabolism, Poor, CYP2C19-RELATED | Cytochrome P450 Enzyme... and other conditions

United States
Emory University

Terminated

Post-operative Pain Control After Pediatric Adenotonsillectomy

Obstructive Sleep Apnea | Sleep Disordered Breathing | Adverse Reaction to Drug | Recurrent Tonsillitis

United States
Assistance Publique - Hôpitaux de Paris

Completed

Polyacrylamide Hydrogel Injection in HIV-related Lipoatrophy (LIPOPHILL)

HIV Infection | Antiretroviral Side Effects | Lipodystrophy Syndrome Related to HIV Infection

France
Chang Gung Memorial Hospital

Unknown

Sensory Retraining Facilitates Sensory Recovery After Mandibular Nerve Injury

Surgery | Mandibular Prognathism | Injury of Trigeminal Nerve

Taiwan
Progenity, Inc.

Completed

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Down Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau Syndrome

United States
Medical University of Warsaw

Recruiting

Possible Differences in HCC Course Depending on DAA Treatment

Liver Cirrhosis | Carcinoma, Hepatocellular | Hepatitis C, Chronic | Drug Effect | Hepatitis C Virus Infection, Response to Therapy of | Drug Side Effect

Poland
Eli Lilly and Company

Active, not recruiting

A Study of Abemaciclib (LY2835219) With Abiraterone in Men With Prostate Cancer That Has Spread to Other Parts of the Body and is Expected to Respond to Hormonal Treatment (Metastatic Hormone-Sensitive Prostate Cancer) (CYCLONE 3)

Urogenital Neoplasms | Prostatic Neoplasms | Neoplasm Metastasis | Enzyme Inhibitors | Antineoplastic Agents | Hormones | Physiological Effects of Drugs | Antineoplastic Agents, Hormonal | Androgens | Hormones, Hormone Substitutes, and Hormone Antagonists | Abiraterone Acetate | Steroid Synthesis Inhibitors | Cytochrome... and other conditions

China, Canada, France, United States, Australia, Czechia, Hungary, Spain, Germany, Japan, Taiwan, Netherlands, Turkey, Mexico, Belgium, Korea, Republic of, Argentina, Romania, United Kingdom, Italy, Israel, Brazil, Poland, Greece
Eastern Cooperative Oncology Group
National Cancer Institute (NCI)

Terminated

Amifostine and Melphalan in Treating Patients With Primary Systemic Amyloidosis Who Are Undergoing Peripheral Stem Cell Transplantation

Multiple Myeloma and Plasma Cell Neoplasm | Drug/Agent Toxicity by Tissue/Organ

United States
Stanford University

Completed

Impact of a Ketogenic Diet on Metabolic and Psychiatric Health in Patients With Bipolar or Schizophrenia Illness

Obesity | Schizophrenia | Metabolic Syndrome | Bipolar Disorder | Weight Gain | Ketogenic Dieting | Psychotropic Agents Causing Adverse Effects in Therapeutic Use | Brain Metabolic Disorder

United States
Lowell Anthony, MD
Entrinsic Bioscience Inc.

Completed

Evaluating an Amino Acid Based Medical Food w/ Diarrhea in Carcinoid Syndrome & Other NETs

Diarrhea | Neuroendocrine Tumors | Carcinoid Syndrome | Carcinoid Tumor of GI System

United States
Celularity Incorporated
Lung Biotechnology PBC; California Institute for Regenerative Medicine (CIRM); ID...

Active, not recruiting

Natural Killer Cell (CYNK-001) Infusions in Adults With COVID-19 (CYNKCOVID)

Coronaviridae Infections | Nidovirales Infections | RNA Virus Infections | Respiratory Tract Infections | Coronavirus Infection | Pneumonia, Viral | Pneumonia | Lung Diseases | ARDS | Coronavirus | Severe Acute Respiratory Syndrome Coronavirus 2 | Respiratory Tract Disease | Virus Disease | Physiological Effects of... and other conditions

United States
Kartal Kosuyolu Yuksek Ihtisas Education and Research...
Trakya University

Completed

The Use of Midazolam and Remifentanil During Dialysis Access Procedures

Chronic Kidney Diseases | Patient Satisfaction | Arteriovenous Fistula | Adverse Reaction to Drug | Analgesic Adverse Reaction | Sedative Adverse Reaction | Midazolam Adverse Reaction
Gynecologic Oncology Group
National Cancer Institute (NCI); Canadian Cancer Trials Group

Completed

Radiation Therapy and Cisplatin With or Without Epoetin Alfa in Treating Patients With Cervical Cancer and Anemia

Anemia | Cervical Adenocarcinoma | Cervical Adenosquamous Carcinoma | Radiation Toxicity | Cervical Squamous Cell Carcinoma | Drug Toxicity | Stage IIB Cervical Cancer | Stage III Cervical Cancer | Stage IVA Cervical Cancer

United States
Seoul National University Hospital
Ministry of Health & Welfare, Korea

Available

Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation

Limbal Stem Cell Deficiency | Ocular Cicatricial Pemphigoid | Stevens-johnson Syndrome | Chemical Burn

Korea, Republic of
Jonsson Comprehensive Cancer Center
National Cancer Institute (NCI)

Withdrawn

Depression and Interleukin-6 Production in Patients With Ovarian Epithelial Cancer

Depression | Fatigue | Ovarian Cancer | Sleep Disorders | Psychosocial Effects of Cancer and Its Treatment
Medical University of Bialystok
University of Bialystok

Recruiting

Diffusion Weighted Magnetic Resonance Imaging and the Optic Nerve Neuropathy.

Optic Neuritis | Ischemic Optic Neuropathy | Traumatic Optic Neuropathy | Toxic Optic Neuropathy | Compressive Optic Neuropathy | Hereditary Optic Neuropathies

Poland
McGill University Health Centre/Research Institute...

Recruiting

Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Peroxisome Biogenesis Disorder | Zellweger Spectrum Disorder | RCDP - Rhizomelic Chondrodysplasia Punctata | D-Bifunctional Protein Deficiency | Alpha-Methylacyl-CoA Racemase Deficiency | Peroxisomal Acyl-CoA Oxidase Deficiency | Peroxisomal Acyl-CoA Oxidase 2 Deficiency | ATP Binding Cassette Subfamily... and other conditions

Canada
University of Edinburgh

Recruiting

Fibrosis in Chronic and Delayed Myocardial Infarction (FCDMI)

Aortic Stenosis | Carcinoid Syndrome | Chemotherapy Induced Systolic Dysfunction

United Kingdom
Ain Shams University
Misr International University

Recruiting

Effect of Genetic and Epigenetic Factors on the Clinical Response and Toxicity to Cisplatin Among Egyptian Non-small Cell Lung Cancer Patients

Non Small Cell Lung Cancer | Cardiotoxicity | Nephropathy

Egypt
University Hospital, Geneva

Recruiting

Radiosurgery Induced Ototoxicity in Patients Treated for a Vestibular Schwannoma

Ototoxicity | Vestibular Schwannoma

Switzerland
Ciusss de L'Est de l'Île de Montréal

Not yet recruiting

Pilot Study for Cyproheptadine in Hospitalized Patient for COVID-19

COVID-19 Pneumonia | Serotonin Syndrome | Platelet Dysfunction | Viral Pneumonia
University of Chicago

Recruiting

Dyspnea and Cardiotoxicity in Multiple Myeloma Patients Who Receive Carfilzomib

Multiple Myeloma | Cardiotoxicity | Dyspnea | Shortness of Breath

United States
University of Southern Denmark
Odense University Hospital

Completed

Implementation and Quality Assurance of DPYD-genotyping in Patients Treated With Fluoropyrimidines.

Breast Cancer | Gastric Cancer | Rectal Cancer | Bile Duct Cancer | Colon Cancer | Pancreas Cancer | Oesophageal Cancer | Adverse Drug Event

Denmark
Pfizer
TFS Trial Form Support

Completed

Study On Fatigue- And Hand-Foot Syndrome-Related Quality Of Life In Patients With Metastatic Renal Cell Carcinoma Receiving A Tyrosine Kinase Inhibitor as First-Line Treatment (TROYA)

Metastatic Renal Cell Carcinoma

Spain
Chulalongkorn University
Mahidol University; Chiang Mai University; Phramongkutklao College of Medicine... and other collaborators

Unknown

Severe Cutaneous Adverse Reactions in Thailand (ThaiSCAR)

Drug Reaction With Eosinophilia and Systemic Symptoms | Toxic Epidermal Necrolysis | Acute Generalized Exanthematous Pustulosis | Steven-Johnson Syndrome | Generalized Bullous Fixed Drug Eruption

Thailand
Merck Sharp & Dohme LLC

Completed

A Study to Determine the Management of Palmar-plantar Erythrodysesthesia (PPE) in Patients With Metastatic Ovarian or Breast Cancer Treated With Caelyx (Study P05020)

Breast Neoplasms | Ovarian Neoplasms | Paresthesia
National Cancer Institute (NCI)

Completed

Irinotecan Plus Cyclosporine and Phenobarbital in Treating Patients With Solid Tumors or Lymphoma

Lymphoma | Small Intestine Cancer | Neutropenia | Unspecified Adult Solid Tumor, Protocol Specific | Drug/Agent Toxicity by Tissue/Organ

United States
Emory University
Children's Healthcare of Atlanta

Terminated

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

Sickle Cell Disease | Fanconi Anemia | Thalassemia | Severe Congenital Neutropenia | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Leukocyte Adhesion Deficiency | Dyskeratosis-congenita | Chediak-Higashi Syndrome | Chronic-granulomatous Disease | Schwachman-Diamond...

United States
National Institute of Diabetes and Digestive and...

Recruiting

Natural History of Noncirrhotic Portal Hypertension

Cystic Fibrosis | Turner Syndrome | Congenital Hepatic Fibrosis | Immunologic Deficiency Syndrome | Idiopathic Non-Cirrhotic Portal Hypertension

United States
City of Hope Medical Center
National Cancer Institute (NCI)

Completed

Trametinib and Trifluridine and Tipiracil Hydrochloride in Treating Patients With Colon or Rectal Cancer That is Advanced, Metastatic, or Cannot Be Removed by Surgery

Stage IV Colorectal Cancer AJCC v7 | Stage IVA Colorectal Cancer AJCC v7 | Stage IVB Colorectal Cancer AJCC v7 | Metastatic Colorectal Carcinoma | Stage III Colon Cancer AJCC v7 | Stage III Rectal Cancer AJCC v7 | Stage IIIA Colon Cancer AJCC v7 | Stage IIIA Rectal Cancer AJCC v7 | Stage IIIB Colon... and other conditions

United States
University of Kansas Medical Center

Not yet recruiting

Opioid-Free Pain Treatment in Trauma Patients

Femoral Neck Fractures | Distal Radius Fractures | Femoral Shaft Fracture | Intertrochanteric Fractures | Patella Fracture | Lisfranc Injuries | Distal Femur Fracture | Calcaneus Fractures | Clavicle Fractures | Proximal Humerus Fractures | Tibial Shaft Fracture With or Without Associated Fibula Fracture | Ankle... and other conditions

United States
Eunice Kennedy Shriver National Institute of Child...

Recruiting

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

Turner Syndrome | Galactosemia | Ovarian Disfunction | Post-menarcheal Adolescents | Variations in Sex Characteristics | Differences in Sex Development

United States
Johns Hopkins University
National Heart, Lung, and Blood Institute (NHLBI)

Enrolling by invitation

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

Hypertrophic Cardiomyopathy (HCM) | Long QT Syndrome (LQTS) | Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) | Inherited Cardiac Arrythmias | Brugada Syndrome (BrS) | Early Repolarization Syndrome (ERS) | Arrhythmogenic Cardiomyopathy (AC, ARVD/C) | Dilated Cardiomyopathy (DCM) | Muscular... and other conditions

United States
Natera, Inc.
Children's Hospital of Philadelphia; Montefiore Medical Center; University of... and other collaborators

Completed

SNP-based Microdeletion and Aneuploidy RegisTry (SMART) (SMART)

Prader-Willi Syndrome | DiGeorge Syndrome | 22q11 Deletion Syndrome | Angelman Syndrome | Trisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy X | Sex Chromosome Abnormalities | 1p36 Deletion Syndrome | Cri-du-Chat Syndrome

United States, Australia, Ireland, Spain, Sweden, United Kingdom
Joseph M. Still Research Foundation, Inc.

Recruiting

Association of Cytokines With the Development of Complications in Burn and Toxic Epidermal Necrolysis (TENS) Patients

Inflammatory Response | Deep Vein Thrombosis | Multi Organ Failure | Nosocomial Infection

United States
University of Rochester
National Institute of Neurological Disorders and Stroke (NINDS)

Completed

An MRI Ancillary Study of a Malaria Fever Investigation (MRIA)

Brain Injuries | Chronic Kidney Diseases | Malaria | Behavior Problem | MRI Imaging | Neurocognitive Deficits

Zambia, Malawi
Oxford University Clinical Research Unit, Vietnam
Pham Ngoc Thach Hospital, Ho Chi Minh City, Vietnam; Hospital for Tropical... and other collaborators

Completed

Adjunctive Corticosteroids for Tuberculous Meningitis in HIV-infected Adults (The ACT HIV Trial)

HIV | Tuberculosis | Drug-Induced Liver Injury | Tuberculous Meningitis | IRIS

Indonesia, Vietnam
Chulalongkorn University

Completed

Characteristics of Patients Diagnosed With NSAID Sensitivity in Thailand

Aspirin Sensitivity | Aspirin-exacerbated Respiratory Disease | NSAID-Induced Anaphylactoid Reaction | Aspirin-Induced Angioedema-Urticaria | Aspirin Allergy | NSAID-Induced Asthma | NSAID-Induced Angioedema-Urticaria | Aspirin-Induced Anaphylactoid Reaction

Thailand
Virginia Commonwealth University
National Cancer Institute (NCI)

Completed

High-Dose Cytarabine Plus Deoxycytidine in Treating With Acute Myelogenous Leukemia or Other Hematologic Malignancies

Lymphoma | Leukemia | Multiple Myeloma and Plasma Cell Neoplasm | Drug/Agent Toxicity by Tissue/Organ

United States
Wuhan University
Peking University; Pfizer

Unknown

Efficacy and Safety of Ziprasidone to Treat Depressive Symptoms in Patients With Schizophrenia

The Primary Evaluation is the Change From Baseline at End of Study for CDSS Total Scores. | The Secondary Efficacy Evaluations Include: MADRS, PANSS Total Scores and Subscales and Responder Rate; CGI-S and CGI-I Scales. | Safety Evaluations Include: Laboratory Test Abnormalities; BARS... and other conditions

Clinical Trials on Single-Gene Defects

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mozambique

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations