13 completed, 12 unknown, 6 recruiting, 2 active not recruiting. 15 Not applicable, 1 Phase 2, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 15 | Completed 8, Unknown 3, Active not recruiting 2, Recruiting 2 |
| Phase 2 | 1 | Recruiting 1 |
| Phase 3 | 1 | Recruiting 1 |
Follow Exome Sequencing: new trials by email Literature Review of Exome Sequencing trials Research Report on Exome Sequencing
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| MICROVASCULAR DAMAGE IN THROMBOTIC THROMBOCYTOPENIC PURPURA Factor VIII (FVIII), Von Willebrand factor (VWF) antigen, VWF:RCo - TTP - Thrombotic Thrombocytopenic Purpura | Not applicable | Active not recruiting | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico | 79 | 2026-02-28 | 2026-06-09 |
| Exploring the Impact of Genetic Variations on The Clinical Efficacy of Nalbuphine in Postoperative Pain Management Nalbuphine Injection, Next Generation Sequencing, whole exome sequencing - Cholecystectomy, Hernia, Abdominal | Phase 2 / Phase 3 | Recruiting | Dr. Asma Abdus Salam | 263 | 2025-09-01 | 2026-04-15 |
| Discovery and Validation of Protein Structural Complexes in Circulating Biofluids As Novel Biomarkers for Early Diagnosis, Prognosis and Therapeutic Management of Patients Affected by Neurodegenerative Disorders Genetic: whole genome sequencing, whole exome sequencing - Parkinson Disease, Amyotrophic Lateral Sclerosis (ALS) | Recruiting | Neuromed IRCCS | 110 | 2025-02-04 | 2025-03-18 | |
| Genomic Profiling of Genetic and Rare Diseases Whole Exome Sequencing (WES) - Rare Diseases, Genetic Disease | Not applicable | Recruiting | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | 1500 | 2024-11-05 | 2025-04-13 |
| Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty Whole genome sequencing, Whole exome sequencing - Diarrhea, Infantile, Enteropathy | Not applicable | Recruiting | Children's Hospital of Fudan University | 180 | 2024-05-01 | 2026-03-24 |
| Analysis of Molecular Biomarkers in Periocular Adnexal Tumours exome sequencing (retrospective) and exome and methylome sequencing (prospective) - Sebaceous Cell Tumor of Eyelid | Not applicable | Unknown | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | 20 | 2023-10-31 | 2024-02-23 |
| Genetics of Prostate Cancer in Young Patients Molecular analysis of genomic DNA (exome sequencing) from peripheral blood sample - Prostate Carcinoma | Completed | IRCCS Azienda Ospedaliero-Universitaria di Bologna | 50 | 2023-09-25 | 2024-12-03 | |
| Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen Development Whole exome sequencing - Optic Disk Drusen | Completed | Copenhagen University Hospital at Herlev | 20 | 2023-05-01 | 2024-08-02 | |
| Liquid Biopsy in Advanced Oligometastatic NSCLC Receiving Surgery ctDNA testing and whole exome sequencing - Non-small Cell Lung Cancer, Oligometastatic Disease | Unknown | Guangdong Provincial People's Hospital | 60 | 2022-07-01 | 2022-12-13 | |
| Helix Research Network Exome sequencing - Genetic Predisposition to Disease, Genetics Disease | Recruiting | Helix, Inc | 2000000 | 2021-09-13 | 2026-03-23 | |
| Genetic Studies of Strabismus, Nystagmus, and Associated Disorders whole genome sequencing or whole exome sequencing - Strabismus, Nystagmus, Congenital | Recruiting | Boston Children's Hospital | 400 | 2021-09-03 | 2025-12-12 | |
| Genetic Risk Factors of the Sneddon Syndrome Exome Sequencing and Sanger Sequencing - Sneddon Syndrome | Completed | Karl Landsteiner University of Health Sciences | 40 | 2021-05-12 | 2025-02-27 | |
| The Occurrence of Single Nucleotide Polymorphism Among Women Who Experienced Obstetric Anal Sphincter Injury screening for single nucleotide polymorphism, whole exome sequencing - Delivery, Obstetric | Not applicable | Completed | HaEmek Medical Center, Israel | 93 | 2020-09-04 | 2025-03-26 |
| Contribution of Functional MRI in Assessment of Auditory Processing Disorders functional MRI, Automated Cortical Brainstem Auditory Evoked Potential, whole exome sequencing - Auditory Processing Disorders | Not applicable | Completed | Assistance Publique - Hôpitaux de Paris | 45 | 2020-09-02 | 2026-03-23 |
| Genetic Mechanisms Underlying SARS-CoV-2 Infection and the Impact of COVID-19 on Cognitive Function Whole exome sequencing - Covid19 | Unknown | Texas Cardiac Arrhythmia Research Foundation | 60 | 2020-08-20 | 2020-08-27 | |
| Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral, Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal Prognosis CGH-array and exome sequencing - Fetal Malformation, Pregnancy Related | Not applicable | Unknown | University Hospital, Strasbourg, France | 90 | 2020-08-05 | 2020-11-13 |
| Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia Exome sequencing in pediatrics cancers - Pediatric Tumor, Familial Cancer | Not applicable | Completed | University Hospital, Montpellier | 100 | 2020-07-09 | 2026-06-22 |
| Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES) Whole Exome Sequencing - Castration-Resistant Prostatic Cancer | Unknown | Yinghao Sun | 200 | 2019-11-08 | 2019-11-05 | |
| Multi-omics Study on the Pathogenesis of Malignant Transformation of Adenomyosis whole exome sequencing and RNA-sequencing - Adenomyosis, Endometrial Cancer | Unknown | Lei Li | 40 | 2019-07-16 | 2019-07-18 | |
| Drivers of Hypoxia-induced Angiogenesis in Tumor Development Whole exome sequencing - Von Hippel-Lindau Disease | Unknown | University of Copenhagen | 10 | 2019-06-14 | 2019-09-27 |
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Genetic Diseases, Inborn (4) · Abnormalities, Multiple (2) · Congenital Abnormalities (2) · Genetic Predisposition to Disease (2) · Hearing Loss (2) · Adenomyosis (1) · Agenesis of Corpus Callosum (1) · Alternating hemiplegia of childhood (1) · Amyotrophic Lateral Sclerosis (1) · Aortic Diseases (1) · Aortic Dissection (1) · Auditory Perceptual Disorders (1) · Autism Spectrum Disorder (1) · Autoimmune Diseases (1) · CAPOS syndrome (1)
University Hospital, Montpellier (3) · Assistance Publique - Hôpitaux de Paris (2) · Fondazione Policlinico Universitario Agostino Gemelli IRCCS (2) · Hospices Civils de Lyon (2) · University Hospital, Strasbourg, France (2) · University of California, San Francisco (2) · Boston Children's Hospital (1) · Brigham and Women's Hospital (1) · Central Hospital, Nancy, France (1) · Children's Hospital Medical Center, Cincinnati (1) · Children's Hospital of Fudan University (1) · Copenhagen University Hospital at Herlev (1) · Dr. Asma Abdus Salam (1) · Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico (1) · Guangdong Provincial People's Hospital (1)
France (9) · United States (8) · Italy (5) · China (4) · Denmark (2) · United Kingdom (2) · Austria (1) · Israel (1) · Pakistan (1)
Mary Norton, MD (2) · Andrea Natale (1) · Cesare Rossi, Biologist (1) · Cynthia M Powell, MD (1) · Gavin J Murphy, Prof (1) · Giovanni Mariscalco, Prof (1) · Giovanni Scambia (1) · Hedi Raischer, MD (1) · Helen Cross, PhD (1) · Isabelle Rouillon, MD, PhD (1) · Jonathan Berg, MD, PhD (1) · Julien Broseus, MD, PhD (1) · Lei Li, M.D. (1)
PMID 10676951, PMID 18492108, PMID 20014148, PMID 21266718, PMID 21417856, PMID 21670202, PMID 22571487, PMID 23841899, PMID 24004666, PMID 24127483, PMID 28409480, PMID 28842786, PMID 29950170, PMID 31559918, PMID 33027564, PMID 34000073, PMID 35383466, PMID 35396980
K12HD001262 (1), R01EY032539 (1), U19HD077632 (1)