Clinical Trials on Hereditary Diseases

Total 378887 results

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
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
Massachusetts Eye and Ear Infirmary

Recruiting

Assessment of Corneal Endothelial Function Following Hypoxic Stress

Fuchs' Endothelial Corneal Dystrophy

United States
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
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
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
Istituto Ortopedico Rizzoli

Completed

Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Exostoses, Multiple Hereditary

Italy
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
University of Texas Southwestern Medical Center

Terminated

The Dallas Hereditary Spherocytosis Cohort Study

Hereditary Spherocytosis
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
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
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
Pharming Technologies B.V.

Completed

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

Genetic Disorders

Netherlands
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
Sun Yat-sen University

Completed

Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy

Immune System Diseases | Autoimmune Diseases | Eye Diseases | Endocrine System Diseases | Thyroid Diseases | Eye Diseases, Hereditary | Graves Ophthalmopathy | Graves Disease | Hyperthyroidism

China
Academisch Medisch Centrum - Universiteit van Amsterdam...

Completed

Ascorbic Acid Treatment in CMT1A Trial (AATIC) (AATIC)

Charcot-Marie-Tooth Disease | Hereditary Motor and Sensory Neuropathies

Netherlands
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
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
Penn State University

Withdrawn

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

Hereditary Angioedema
State Scientific Centre of Coloproctology, Russian...
The Loginov MCSC MHD; Pirogov National Medical and Surgical Center; Moscow City... and other collaborators

Recruiting

Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer (MSIRus22)

Colorectal Cancer | Lynch Syndrome | Hereditary Colorectal Cancer | MSI

Russian Federation
University Hospital Tuebingen

Completed

Physiotherapy in Hereditary Spastic Paraplegia

Hereditary Spastic Paraplegia

Germany
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Active, not recruiting

Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families

Lynch Syndrome | Hereditary Breast Carcinoma | Hereditary Ovarian Carcinoma

United States
Genomic Prediction Inc.

Active, not recruiting

Embryo Health Study (EHS)

Infertility | Hereditary Diseases

United States
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
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
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
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
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
Istituti Clinici Scientifici Maugeri SpA

Completed

Social Evaluated Cold Pressor Test in Hereditary Angioedema Patients (FROSEN)

Hereditary Angioedema

Italy
University Medicine Greifswald

Completed

EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis

Pancreatitis
National Human Genome Research Institute (NHGRI)

Completed

Study of Clinical and Molecular Manifestations of Genetic Disorders

Hereditary Diseases

United States
University Hospital, Grenoble

Completed

Assessment of the State of Health, Quality of Life and Expectations of Patients With Hereditary Angioedema (BESQAOH)

Hereditary Angioedema

France
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
University of British Columbia

Suspended

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

Exostoses, Multiple Hereditary

Canada
National Human Genome Research Institute (NHGRI)

Completed

Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer

HNPCC | Hereditary Nonpolyposis Colon Cancer

United States
Jaeb Center for Health Research
Usher 1F Collaborative; Marjorie C. Adams Foundation

Active, not recruiting

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)

Retinal Degeneration | Retinitis Pigmentosa | Eye Diseases, Hereditary

Switzerland, United States, Germany, Netherlands, Canada, France, Israel
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
Centre Hospitalier Universitaire Dijon

Unknown

Genomic Screening for Hereditary Erythrocytosis and Related Diseases (GENRED)

Hereditary Erythrocytosis/Idiopathic Erythrocytosis

France
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
Trefoil Therapeutics, Inc.

Completed

A Phase 1/ Phase 2 Study of TTHX1114(NM141) (INTREPID)

Endothelial Dysfunction | Corneal Endothelial Dystrophy | Pseudophakic Bullous Keratopathy | Fuchs Endothelial Corneal Dystrophy

United States
The Cleveland Clinic
National Eye Institute (NEI)

Recruiting

DISCOVER Study: Microscope-integrated Intraoperative OCT Study (DISCOVER)

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

United States
Centre Hospitalier Universitaire Dijon

Completed

Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) (TangRO)

Hereditary Hemorrhagic Telangiectasia

France
Charite University, Berlin, Germany
Shire International GmbH

Active, not recruiting

Lanadelumab in FXII-associated Cold Autoinflammatory Syndrome (FACAS) (LANA-FXII)

Hereditary Autoinflammatory Disease

Germany
Xuanwu Hospital, Beijing

Recruiting

Spinal Cord Stimulation Therapy for Hereditary Spastic Paraplegias Patients

Gait | Motor Function

China
NYU Langone Health

Recruiting

The Natural History of Familial Dysautonomia

Hereditary Sensory and Autonomic Neuropathies | Familial Dysautonomia (Riley-Day Syndrome) | Hereditary Sensory and Autonomic Neuropathy 3

United States, Israel

Clinical Trials on Hereditary Diseases

Sponsors and Collaborators

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Drug Interventions

CROs by country

CROs in Angola

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Rare Diseases

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