Pathogenic mutations
Showing 1 - 25 of 3,249
Retrospective Natural History Study of Retinitis Pigmentosa
Active, not recruiting
- Retinitis Pigmentosa (RP)
-
Paris, FranceCHNO XV-XX Paris - CIC 1423
Aug 3, 2021
Diabete Type 2 Trial in Liège (search for rare pathogenic mutations)
Recruiting
- Diabete Type 2
- search for rare pathogenic mutations
-
Liège, BelgiumMarjorie Fadeur
Jan 7, 2021
Germline Mutations in Pancreatic Adenocarcinoma
Completed
- Germline Mutation Abnormality
- +3 more
- Mutations
-
Athens, GreeceHellenic Oncology Cooperative Group
Feb 11, 2021
Metastatic Cancer Trial in United States (Palliative radiotherapy)
Recruiting
- Metastatic Cancer
- Palliative radiotherapy
-
Basking Ridge, New Jersey
- +6 more
Sep 22, 2021
Alport Syndrome Trial in Shanghai (Ramipril)
Not yet recruiting
- Alport Syndrome
-
Shanghai, ChinaXinhua Hospital, Shanghai Jiao Tong University School of Medicin
Nov 23, 2021
X-Linked Retinitis Pigmentosa Trial (rAAV2tYF-GRK1-hRPGRco)
Not yet recruiting
- X-Linked Retinitis Pigmentosa
- rAAV2tYF-GRK1-hRPGRco
- (no location specified)
May 19, 2021
X-Linked Retinitis Pigmentosa Trial in United States (rAAV2tYF-GRK1-RPGR)
Recruiting
- X-Linked Retinitis Pigmentosa
- rAAV2tYF-GRK1-RPGR
-
Jacksonville, Florida
- +6 more
Jul 13, 2021
Mitochondrial Dysfunctions Driving Insulin Resistance
Recruiting
- Mitochondrial Myopathies
- +2 more
-
Copenhagen, DenmarkRigshospitalet
Oct 16, 2023
Whole Exome Sequencing in Coronary Artery Ectasia
Completed
- Coronary Ectasia
- Coronary Aneurysm
- Whole exome sequencing
-
Kraków, PolandDepartment of Coronary Disease and Heart Failure, John Paul II H
Aug 18, 2023
Universal- Versus Guidelines-Directed Genetic Testing for
Recruiting
- Genetic Predisposition
-
Amman, JordanKing Hussein Cancer Center
Aug 17, 2022
Universal Genetic Testing Versus Guidelines-Directed Testing for
Recruiting
- Breast Cancer
-
Amman, JordanKing Hussein Cancer Center
Aug 17, 2022
Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders Trial in Copenhagen (High-intensity exercise training)
Recruiting
- Mitochondrial Myopathies
- +2 more
- High-intensity exercise training
-
Copenhagen, DenmarkRigshospitalet
Oct 16, 2023
Molecular Characterisation of Appendiceal Cancer
Not yet recruiting
- Appendiceal Cancer
- Retrospective tissue sample analysis
- (no location specified)
Aug 22, 2022
Hereditary Diffuse Gastric Cancer Trial in Paris (Liquid biopsies (blood, gastric fluid).)
Recruiting
- Hereditary Diffuse Gastric Cancer
- Liquid biopsies (blood, gastric fluid).
-
Paris, FranceHopital Pitié Salpetrière
Oct 31, 2022
Amyloidosis, Hereditary Trial in Richmond (Registry)
Not yet recruiting
- Amyloidosis, Hereditary
- Registry
-
Richmond, VirginiaVirginia Commonwealth University
Jul 25, 2023
Human Mitochondrial Stress-driven Obesity Resistance
Recruiting
- Mitochondrial Diseases
- +2 more
-
Copenhagen, DenmarkRigshospitalet
Oct 16, 2023
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies Trial run by the
Not yet recruiting
- Inherited Bone Marrow Failure Syndrome
- Familial Platelet Disorder With Predisposition to Myeloid Malignancies
- imatinib
- TruSight Oncology
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Oct 20, 2023
Pro-active Genetic Testing in Kidney Transplant Patients
Recruiting
- Kidney Transplant
- Genetic Health Screen Panel
-
Scottsdale, ArizonaMayo Clinic Arizona
Mar 25, 2022
Retinitis Pigmentosa Trial in Pittsburgh, Paris (Ophthalmic examinations, Mobility Test)
Active, not recruiting
- Retinitis Pigmentosa
- Ophthalmic examinations
- Mobility Test
-
Pittsburgh, Pennsylvania
- +1 more
Apr 19, 2022
Genetic Predisposition Testing Program for Pancreatic
Not yet recruiting
- Pancreatic Neuroendocrine Neoplasm
- Hereditary Cancer Panel
-
Los Angeles, California
- +2 more
Feb 17, 2023
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
Recruiting
- Limb Girdle Muscular Dystrophy
- No intervention
-
Copenhagen, DenmarkNanna Scharff Poulsen
Jan 17, 2023
Rate of Progression in EYS Related Retinal Degeneration
Active, not recruiting
- Retinitis Pigmentosa
- Eye Diseases
-
San Francisco, California
- +19 more
Feb 3, 2022
Prostatic Tumor, Prostate Cancer, BRCA2 Mutation Trial in Boston (Prostate cancer screening)
Recruiting
- Prostatic Neoplasm
- +7 more
- Prostate cancer screening
-
Boston, MassachusettsMassachusetts General Hospital
Nov 30, 2021
Cystinosis, Cystinosis, Nephropathic, Spinal Muscular Atrophy Trial in Germany (molecular-based screening)
Completed
- Cystinosis
- +2 more
- molecular-based screening
-
Rosenheim, Bavaria, Germany
- +3 more
Aug 30, 2023