Clinical Trials on Genetic Disorders

Total 152502 results

Rhythm Pharmaceuticals, Inc.

Completed

Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity

Obesity | Genetic Obesity | Obesity Due to Melanocortin 4 Receptor Deficiency

United States, United Kingdom, Germany, Netherlands, France, Canada, Greece, Israel, Spain
Chang Gung Memorial Hospital

Recruiting

Investigation and Diagnosis of the Chromosome Variation in Donated/Abandoned Blastocyst

Recurrent Miscarriage | Chromosome Translocation | Genetic Disorders in Pregnancy

Taiwan
Borstkanker Onderzoek Groep
Novartis Pharma B.V.; BOOG Study Center

Recruiting

SEQUence of Endocrine Therapy in Advanced Luminal Breast Cancer (SEQUEL-Breast) (SEQUEL-Breast)

Neoplasm, Breast | Congenital, Familial and Genetic Disorders

Netherlands
Nova Mentis Life Science Corp
FourthWall Testing

Recruiting

Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome

Autism Spectrum Disorder | Fra(X) Syndrome

United States
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used in Patients With Haemophilia A and B With Inhibitors When Undergoing Surgery

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Safety and Tolerability of Intravenous Doses of Activated Recombinant Human Factor VII in Healthy Volunteers

Healthy | Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

France
Novo Nordisk A/S

Completed

High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

France, United Kingdom, Spain, Israel, Poland, Turkey, Hungary
Novo Nordisk A/S

Completed

Prediction of the Efficacy of Activated Recombinant Human Factor VII in Adult Congenital Haemophilia A or B Patients With Inhibitors by Use of Thromboelastography

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States, Denmark, France, United Kingdom
University of Alabama at Birmingham
University of Colorado, Denver; Eunice Kennedy Shriver National Institute of... and other collaborators

Completed

Genetic and Physical Characteristics of Rett Syndrome

Rett Syndrome | MECP2 Duplication Disorder | Rett-related Disorder

United States
Holland Bloorview Kids Rehabilitation Hospital
The Hospital for Sick Children

Enrolling by invitation

Fluoxetine in KCNC1-related Disorder

Rare Diseases | Genetic Disease | KCNC1 Related Disorder

Canada
University of California, Davis

Completed

Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome

Fragile X Syndrome | Genetic Diseases

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

Recruiting

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)

Mitochondrial Diseases | Mitochondrial Disorders | Mitochondrial Genetic Disorders | Disorder of Mitochondrial Respiratory Chain Complexes | Deletion and Duplication of Mitochondrial DNA

United States, Canada
Novo Nordisk A/S

Completed

Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658

Noonan Syndrome | Genetic Disorder

Sweden
Stanford University

Terminated

Neuroimaging GABA Physiology in Fragile X Syndrome

Fragile X Syndrome (FXS) | Idiopathic Intellectual Developmental Disorder (IDD)

United States
Novo Nordisk A/S

Completed

A Long-term Assessment of Physical Activity, Range of Motion, and Functional Status Following Elective Orthopedic Surgery in Hemophilia Patients With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used in Patients With Haemophilia A and B With Inhibitors Under Normal Clinical Practice

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors (ONE)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Saudi Arabia, Algeria, Turkey, Germany, Poland, Netherlands, Italy, Belgium, South Africa, United Kingdom, Sweden, Austria, Portugal, France, Czech Republic, Venezuela
Spark Therapeutics

Completed

Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors

Hematologic Diseases | Blood Coagulation Disorders, Inherited | Coagulation Protein Disorders | Hemorrhagic Disorders | Genetic Diseases, Inborn | Genetic Diseases, X-Linked | Gene Therapy | Blood Coagulation Disorder | Gene Transfer | Adeno-Associated Virus (AAV) | Factor VIII (FVIII) | Factor VIII (FVIII)... and other conditions

United States
Peking University People's Hospital
West China Hospital; Chinese Academy of Sciences; Shanghai Pulmonary Hospital... and other collaborators

Unknown

Molecular Typing of Community-acquired Pneumonia Based on Multiple-omic Data Analysis

Genetic Disorder | Community-Acquired Infections | Respiratory Infections | Host-Pathogen Interactions

China
Children's Hospital Medical Center, Cincinnati
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Recruiting

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders (ENTRAIN)

Autism Spectrum Disorder | Autistic Disorder | Fragile X Syndrome | Asperger Syndrome

United States
University Hospital, Tours

Completed

Glutaminergic Transmission in Autism : Molecular Imaging Exploration (TANGAU)

Healthy Volunteers | Autism | Fragile-X Syndrome (FXS)

France
Novo Nordisk A/S

Completed

Safety and Efficacy of Long-term Somatropin Treatment in Children (GrowthWIN II)

Turner Syndrome | Growth Hormone Disorder | Growth Hormone Deficiency in Children | Genetic Disorder | Foetal Growth Problem | Small for Gestational Age | Growth Disorder | Idiopathic Short Stature

Germany
Universidad de Almeria

Completed

Physical Therapy Treatment on Children and Adolescents With Neurological Pathologies

Neurologic Disorder | Pediatric Disorder | Duchenne | Sensorimotor Disorder Nos

Spain
University of Alabama at Birmingham
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

Natural History of Rett Syndrome & Related Disorders

Rett Syndrome | CDKL5 Disorder | MECP2 Duplication dIsorder | FOXG1 Syndrome

United States
Novo Nordisk A/S

Completed

Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

A Trial Evaluating the Efficacy and Safety of Prophylactic Administration of Concizumab in Haemophilia A and B Patients With Inhibitors (explorer™4)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States, Austria, Spain, Japan, Croatia, Italy, United Kingdom, Israel, Sweden, Ukraine, Malaysia, Greece, Denmark, Canada
Novo Nordisk A/S

Completed

Pharmacogenetic Testing of Saliva Samples From Patients With Five or More Exposure Days to rFVIIa Analogue in the Adept™2 Trial

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States, Serbia, Malaysia, Thailand, Greece, Japan, Romania
Novo Nordisk A/S

Completed

Safety and Efficacy of 3 Different Doses of Long Acting Factor VII in Haemophilia A or B Patients With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

France, United States, Sweden, Serbia, Turkey, United Kingdom, Malaysia, Brazil, Former Serbia and Montenegro, Japan, South Africa
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Trial of NovoSeven® in Haemophilia - Joint Bleeds

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

PROPACT: Retrospective Prophylaxis Patient Case Collection (PROPACT)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Slovakia, Spain, Argentina, Germany, Croatia, Italy, Canada, United Kingdom, Ireland, Sweden, France, United States, Czech Republic, Switzerland
Assiut University

Unknown

Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure

Heart Failure
Copenhagen University Hospital at Herlev

Unknown

Drug-induced Repolarization ECG Changes

Depression | Pathologic Processes | Heart Diseases | Cardiovascular Diseases | Congenital Abnormalities | Death | Death, Sudden | Arrhythmias, Cardiac | ADHD | Heart Arrest | Heart Defects, Congenital | Cardiovascular Abnormalities | Genetic Disease | Death, Sudden, Cardiac | Psychiatric Disorder | Genetic Syndrome | Long... and other conditions

Denmark
National Human Genome Research Institute (NHGRI)

Terminated

The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)

Communication | Genetic Disease

United States
Novo Nordisk A/S

Completed

Epidemiological Study on Haemophilia Care and Orthopaedic Status in Developing Countries (HAEMOcare)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors | Haemophilia A | Haemophilia B

India, Morocco, South Africa, Oman
Novo Nordisk A/S

Completed

Observational Patient Diary Study of Treatment Doses for Patients With Haemophilia With Inhibitors to Factors VIII and IX (DOSE)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

A Trial Investigating the Pharmacokinetics and Pharmacodynamics of rFVIIa in Patients With Haemophilia A or B With or Without Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors | Haemophilia A | Haemophilia B

Spain
Indiana University

Completed

Acamprosate in Youth With Fragile X Syndrome

Fragile X Syndrome | Autism Spectrum Disorders

United States
University of North Carolina, Chapel Hill

Completed

Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment

Fragile X Syndrome | Psychosis | Autism Spectrum Disorders

United States
The Cleveland Clinic
National Human Genome Research Institute (NHGRI); Indiana University

Completed

Ensuring Patients' Informed Access to Noninvasive Prenatal Testing (NEST)

Pregnancy Complications | Genetic Disease | Genetic Syndrome | Prenatal Disorder | Prenatal Maternal Abnormality

United States
The University of Hong Kong

Completed

Substance Misuse To Psychosis for Ketamine (SToP-K)

Psychotic Disorders | Schizophrenia | Substance Use Disorders | Genetic Predisposition | Ketamine Abuse

Hong Kong
The University of Hong Kong

Enrolling by invitation

Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users (SToP-C_PeCoG)

Cannabis Use | Neurocognitive Dysfunction | Genetic Predisposition

Hong Kong
Novo Nordisk A/S

Withdrawn

Investigating the Bioequivalence of Eptacog Alfa A 6 mg and NovoSeven® in Healthy Male Subjects

Healthy | Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors | Haemophilia A | Haemophilia B
World Federation of Hemophilia

Recruiting

World Bleeding Disorders Registry (WBDR)

Hemophilia A | Hemophilia B | Von Willebrand Diseases

Canada
Novo Nordisk A/S

Completed

Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome

Noonan Syndrome | Genetic Disorder

Sweden
Nicklaus Children's Hospital f/k/a Miami Children...
Rady Pediatric Genomics & Systems Medicine Institute

Recruiting

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Genetic Disease | Genetic Syndrome

United States
Karolinska Institutet
Karolinska University Hospital

Enrolling by invitation

Structural Chromosome Rearrangements and Brain Disorders

Rare Diseases | Genetic Disease | Chromosome Abnormality

Sweden
Novo Nordisk A/S

Completed

Efficacy and Safety of NNC 0078-0000-0007 in Patients With Congenital Haemophilia and Inhibitors (adept™2)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Taiwan, United Kingdom, Thailand, Serbia, Croatia, Italy, Poland, Romania, Hungary, Malaysia, United States, Austria, Brazil, Greece, Japan, Puerto Rico, Russian Federation, South Africa, Turkey
Novo Nordisk A/S

Completed

Efficacy of NovoSeven® in Bleeding Prophylaxis in Hemophilia

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

France, United States, Spain, Brazil, Philippines, South Africa, Poland, Turkey, Romania, Bulgaria, Russian Federation, Argentina
National Taiwan University Hospital

Completed

Assessment of Nutritional and Growth Status in Rett Syndrome Patients

Neurologic Disorder | Rett Syndrome

Clinical Trials on Genetic Disorders

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mauritius

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations