8 recruiting, 7 completed, 2 enrolling by invitation, 2 not yet recruiting. 6 Not applicable, 1 Phase 1, 1 Phase 2, 1 Phase 3, 1 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 6 | Unknown 2, Completed 1, Enrolling by invitation 1, Not yet recruiting 1, Recruiting 1 |
| Phase 1 | 1 | Terminated 1 |
| Phase 2 | 1 | Terminated 1 |
| Phase 3 | 1 | Recruiting 1 |
| Phase 4 | 1 | Completed 1 |
Follow Genetic Diseases: new trials by email Literature Review of Genetic Diseases trials Research Report on Genetic Diseases
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 |
|---|---|---|---|---|---|---|
| The Genetics Update Genetics Update Platform plus standard genetic counselling, Standard Genetic Counselling - Genetic Diseases, Genetic Disorders | Not applicable | Not yet recruiting | Unity Health Toronto | 170 | 2027-01-01 | 2026-08-31 |
| BAG3-DCM Natural History Study Dilated Cardiomyopathy (DCM), Cardiovascular Diseases | Not yet recruiting | Rocket Pharmaceuticals Inc. | 30 | 2026-12-01 | 2026-10-19 | |
| A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping AOC 1044, Placebo - Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy) | Phase 3 | Recruiting | Avidity Biosciences, Inc. | 70 | 2026-09-01 | 2026-10-13 |
| The Mayo Clinic Rare and Undiagnosed Disease Hackathon Undiagnosed Diseases, Genetic Diseases | Enrolling by invitation | Mayo Clinic | 50 | 2026-07-24 | 2026-10-01 | |
| PKP2-ACM Natural History Study Cardiomyopathies, Heart Diseases | Recruiting | Rocket Pharmaceuticals Inc. | 36 | 2026-05-15 | 2026-10-14 | |
| Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort blood sample - Immunology, Allergy | Recruiting | Institut National de la Santé Et de la Recherche Médicale, France | 500 | 2025-04-09 | 2026-09-18 | |
| Outcome of HSCT in Children at Ramathibodi Hospital Hematologic Disease and Disorders, Malignancies | Recruiting | Mahidol University | 200 | 2020-05-08 | 2026-10-05 | |
| The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects NGS panel - Birth Defect, Newborn; Fit | Completed | Children's Hospital of Chongqing Medical University | 3423 | 2019-10-01 | 2022-04-12 | |
| Decoding Developmental Disorders in Humams Whole genome sequencing and Genome-Epigenome-Phenome Associations - Genetic Diseases | Completed | Institut National de la Santé Et de la Recherche Médicale, France | 720 | 2019-01-01 | 2026-08-20 | |
| Rapid Whole Genome Sequencing Study Genomic sequencing and molecular diagnostic results, if any - Genetic Diseases, Genetic Syndrome | Not applicable | Enrolling by invitation | Rady Pediatric Genomics & Systems Medicine Institute | 100000 | 2017-08-29 | 2021-12-23 |
| Perinatal Precision Medicine Genomic sequencing and molecular diagnostic results, if any. - Genetic Diseases, Genetic Syndrome | Not applicable | Unknown | Rady Pediatric Genomics & Systems Medicine Institute | 213 | 2017-06-29 | 2024-03-01 |
| Time-Lapse Incubation for Embryo Culture - Morphokinetics and Environmental Stability Miri, Benchtop Multi-room incubator, Miri TL, Time-Lapse incubator - Infertility, Genetic Diseases | Not applicable | Unknown | Shaare Zedek Medical Center | 372 | 2016-10-01 | 2017-02-23 |
| The Alfred Step Test Exercise Protocol (A-STEP), for Adults With Cystic Fibrosis. A-STEP, A-STEP (New Protocol), Comparator: CPET cycle ergometer (Gold Standard) - Cystic Fibrosis, Fibrosis | Not applicable | Completed | The Alfred | 7 | 2016-08-25 | 2025-08-11 |
| Rady Children's Institute Genomic Biorepository Genomic sequencing and molecular diagnostic results, if any - Genetic Diseases | Not applicable | Recruiting | Rady Pediatric Genomics & Systems Medicine Institute | 102000 | 2016-07-01 | 2022-12-12 |
| Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers ELX-02, Placebo - Genetic Diseases, Nonsense Mutations | Phase 1 | Terminated | Eloxx Pharmaceuticals, Inc. | 42 | 2016-07-01 | 2019-10-22 |
| Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Lovastatin, Placebo - Fragile X Syndrome, Genetic Diseases | Phase 4 | Completed | University of California, Davis | 30 | 2016-01-01 | 2019-09-11 |
| Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions Biological Samples - Genetic Diseases, Immune Dysfunction | Recruiting | Imagine Institute | 1000 | 2015-12-28 | 2025-12-19 | |
| Genetic and Metabolic Disease in Children Skin Biopsy - Genetic Diseases, Metabolic Diseases | Recruiting | University of Texas Southwestern Medical Center | 1550 | 2015-06-01 | 2026-07-02 | |
| Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality Gene Panel Sequencing, Whole Genome Sequencing (WGS) - Genetic Diseases | Completed | Charite University, Berlin, Germany | 200 | 2015-01-31 | 2018-01-26 | |
| Prenatal Microarray Follow-Up Study 3-year follow-up - Genetic Diseases | Completed | Columbia University | 184 | 2013-02-01 | 2019-03-25 |
Showing 20 of 23. Sign in to see all of them.
Genetic Diseases, Inborn (23) · Cardiomyopathies (2) · Cardiovascular Diseases (2) · Disease (2) · Heart Diseases (2) · Metabolic Diseases (2) · Neoplasms (2) · Nervous System Diseases (2) · Anemia, Diamond-Blackfan (1) · Arrhythmogenic Right Ventricular Dysplasia (1) · Autoimmune Diseases (1) · COVID-19 (1) · Cardiomyopathy, Dilated (1) · Chromosome Disorders (1) · Communicable Diseases (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (23) · Pathological Conditions, Signs and Symptoms (8) · Pathologic Processes (6) · Disease Attributes (3) · Congenital Abnormalities (2) · Genetic Diseases, X-Linked (2) · Hemic and Lymphatic Diseases (2) · Heredodegenerative Disorders, Nervous System (2) · Immune System Diseases (2) · Neurologic Manifestations (2) · Nutritional and Metabolic Diseases (2) · Signs and Symptoms (2) · Anemia (1) · Anemia, Aplastic (1) · Anemia, Hemolytic (1)
Whole Genome Sequencing (2) · Blood Specimen Collection (1) · Cyclophosphamide (1) · ELX-02 (1) · Lovastatin (1) · Microarray Analysis (1)
Rady Pediatric Genomics & Systems Medicine Institute (3) · Columbia University (2) · Institut National de la Santé Et de la Recherche Médicale, France (2) · Rocket Pharmaceuticals Inc. (2) · Avidity Biosciences, Inc. (1) · Charite University, Berlin, Germany (1) · Children's Hospital Los Angeles (1) · Children's Hospital of Chongqing Medical University (1) · Eloxx Pharmaceuticals, Inc. (1) · Imagine Institute (1) · Mahidol University (1) · Mayo Clinic (1) · National Human Genome Research Institute (NHGRI) (1) · Shaare Zedek Medical Center (1) · The Alfred (1)
United States (10) · France (4) · Australia (2) · Germany (2) · Netherlands (2) · Belgium (1) · Canada (1) · China (1) · Israel (1) · Italy (1) · Spain (1) · Thailand (1) · United Kingdom (1)
Ronald Wapner, MD (2) · Benjamin D Solomon, M.D. (1) · David Dimmock, MD (1) · Eric Klee, Ph.D. (1) · Heiko Krude, M.D. (1) · Lin Zou, Ph.D (1) · Lisa M Wilson, BHS(Physio) (1) · Markus Schuelke, M.D. (1) · Neena Kapoor, M.D. (1) · Ralph J DeBerardinis, MD, PhD (1) · Randi J Hagerman, MD (1) · Ruth Ronn, M.D. C.M. (1) · Stefan Mundlos, M.D. (1) · Stephen F Kingsmore, MD, DSc (1)
PMID 19915526, PMID 23215555, PMID 24569858, PMID 25459642, PMID 30755602, PMID 31019026, PMID 31196892, PMID 31564432, PMID 31624069, PMID 31788263, PMID 32014857, PMID 32316911, PMID 32620939, PMID 32972995, PMID 32972996, PMID 33046443, PMID 33157007, PMID 33157008, PMID 33749980, PMID 33855675, PMID 33888711, PMID 34040193, PMID 34076366, PMID 34077649, PMID 34413139, PMID 34499432, PMID 37041447, PMID 37429778, PMID 38466850, PMID 4704890
R01HD055651 (1), U01HD055651 (1), U19HD077693 (1)