Clinical Trials on Pyropoikilocytosis Hereditary

Total 2614 results

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
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Withdrawn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
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
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
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
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
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
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
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
Sixth Affiliated Hospital, Sun Yat-sen University

Recruiting

Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases (MAOFGAMDNGD)

Hereditary Diseases

China

Clinical Trials on Pyropoikilocytosis Hereditary

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