Clinical Trials on Hereditary Elliptocytosis

Total 2631 results

Shire

Completed

Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks (CHANGE 2)

Hereditary Angioedema

United States
Shire

Completed

Pharmacokinetics of C1 Esterase Inhibitor in Hereditary Angioedema Subjects

Hereditary Angioedema

United States
KalVista Pharmaceuticals, Ltd.

Completed

A Single Dose Safety, Tolerability, Pharmacokinetic and Food Effect Study of KVD900 in Healthy Volunteers

Hereditary Angioedema

United Kingdom
BioCryst Pharmaceuticals

Completed

A Relative Bioavailability Study of Two Formulations of BCX7353

Hereditary Angioedema

United Kingdom
Pharming Technologies B.V.

Completed

A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor

Hereditary Angioedema

United States, Canada, Czechia, Italy, Macedonia, The Former Yugoslav Republic of, Romania, Serbia
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
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
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
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 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 of Cologne
The Clinical Trials Centre Cologne; ESCRS (European Society of Cataract and...

Not yet recruiting

Trial Comparing Cataract Surgery With Triple-DMEK in Patients With Cataract and Fuchs Endothelial Corneal Dystrophy

Cataract Surgery | Cataract and Fuchs Endothelial Corneal Dystrophy

Denmark, Germany, Netherlands, Spain
Unity Health Toronto
The Hospital for Sick Children; Sunnybrook Health Sciences Centre; National Institute... and other collaborators

Completed

Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept

Hereditary Hemorrhagic Telangiectasia

Canada
Hospices Civils de Lyon

Completed

Genotype Expression and Phenotype of Endothelial Cells, Carrying an ACVRL1, ENG or SMAD4 Mutation, in Response to BMP9 for the Identification of New Therapeutic Targets in Hereditary Haemorrhagic Telangiectasia (CAERO)

Hereditary Haemorrhagic Telangiectasia

France
Fondazione Policlinico Universitario Agostino Gemelli...

Completed

Counseling Intervention in Hereditary Hemorrhagic Telangiectasia in the COVID Era.

Hereditary Hemorrhagic Telangiectasia

Italy
Wake Forest University Health Sciences

Terminated

Descemet Membrane Endothelial Keratoplasty vs. Descemet's Stripping With Endothelial Keratoplasty vs. Descemet Stripping Only

Fuchs Dystrophy | Cystoid Macular Edema

United States
Neil Lagali
Linkoeping University; Sahlgrenska University Hospital, Sweden; Region Östergötland and other collaborators

Terminated

Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy (CACICOL-PTK)

Corneal Dystrophy, Epithelial Basement Membrane | Epithelial Recurrent Erosion Dystrophy | Corneal Erosions

Sweden
University of California, Los Angeles

Completed

MRA With Feraheme in HHT

Hereditary Hemorrhagic Telangiectasia

United States
Imperial College London

Completed

Hereditary Haemorrhagic Telangiectasia Flight Safety Study (Flying and HHT)

Hereditary Haemorrhagic Telangiectasia

United Kingdom
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
Istituti Clinici Scientifici Maugeri SpA

Completed

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

Hereditary Angioedema

Italy
University Hospital, Grenoble

Completed

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

Hereditary Angioedema

France
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
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
National Cancer Institute (NCI)

Recruiting

Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disease

Kidney Cancer | Bladder Cancer | Renal Cancer | Malignant Neoplasms | Hereditary Neoplastic Syndromes

United States
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

Clinical Trials on Hereditary Elliptocytosis

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