Clinical Trials on Dehydrated Hereditary Stomatocytosis

Total 2621 results

BioCryst Pharmaceuticals

Completed

An Open-label Drug-Drug Interaction Study to Evaluate the Effect of BCX7353 on Cytochrome P450 Enzyme Activity Using Probe Substrates

Hereditary Angioedema

United Kingdom
Massachusetts General Hospital
Shire Human Genetic Therapies, Inc.

Completed

Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE (IHA)

Hereditary Angioedema

United States
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
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
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
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
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
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
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
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
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
Nanoscope Therapeutics Inc.

Completed

Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] (RESTORE)

Eye Diseases | Retinal Degeneration | Retinal Diseases | Retinitis Pigmentosa | Retinitis | Eye Diseases, Hereditary | Retinal Dystrophies

United States, Puerto Rico
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
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
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
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
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
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

Clinical Trials on Dehydrated Hereditary Stomatocytosis

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Gambia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations