38 recruiting, 35 completed, 20 unknown, 10 active not recruiting. 34 Not applicable, 9 Phase 2, 7 Phase 1, 2 Phase 3, 1 Early Phase 1.
Follow Genetic Disease: new trials by email Literature Review of Genetic Disease trials Research Report on Genetic Disease
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 |
|---|---|---|---|---|---|---|
| A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults ATI-105, Placebo - Friedreich Ataxia, Cardiomyopathies | Phase 1 | Not yet recruiting | Adjuvia Therapeutics, Inc. | 60 | 2026-10-26 | 2026-10-09 |
| Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada Genome-wide Sequencing Ordering - Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease | Not yet recruiting | The Hospital for Sick Children | 100 | 2026-09-01 | 2026-09-02 | |
| Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions Speech-generating device, Control - Genetic Disease, Nonverbal Communication | Not applicable | Recruiting | Murdoch Childrens Research Institute | 38 | 2025-11-03 | 2026-05-26 |
| Natural History of Type 1 Interferonopathies: Insights From a European Cohort Genetic Disease, Immune Dysfunction | Recruiting | Imagine Institute | 500 | 2025-10-01 | 2026-09-10 | |
| An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy nL-TUBB4-001 - Genetic Disease, TUBB4A-Related Leukodystrophy | Phase 1 / Phase 2 | Active not recruiting | University of California, San Diego | 1 | 2025-09-19 | 2025-10-29 |
| Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing Genetic Disease | Recruiting | Women's Hospital School Of Medicine Zhejiang University | 1600 | 2025-09-16 | 2026-09-17 | |
| Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13) SHANK3 mutation - Genetic Disease | Not applicable | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 650 | 2025-09-01 | 2025-08-13 |
| Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF Familial Mediterranean Fever, Intestinal Disease | Completed | Hitit University | 30 | 2025-07-10 | 2026-09-15 | |
| Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease SIGHT Prompted Provider Message - Genetic Disease, Pediatrics | Not applicable | Active not recruiting | Vanderbilt University Medical Center | 1000 | 2025-03-12 | 2026-09-30 |
| Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases Blood sample for genetic analysis, Blood sample for immunological response assessments, Blood sample to identify relevant biomarker of the disease - Systemic Lupus, Autoimmune Diseases | Not applicable | Recruiting | Hospices Civils de Lyon | 400 | 2025-02-26 | 2025-12-22 |
| N-Care Project: Enhancing Asian-Pacific Collaboration Genetic study with nanopore sequencing - Whole Genome Sequencing, Genetic Disease | Recruiting | National Taiwan University Hospital | 70 | 2025-02-17 | 2025-02-20 | |
| Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk Genetic Disease | Recruiting | Women's Hospital School Of Medicine Zhejiang University | 1000000 | 2025-02-14 | 2026-01-26 | |
| Large Language Models To Improve the Quality of Care of Cardiology Patients Large Language Model - Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy | Not applicable | Recruiting | Stanford University | 12 | 2025-01-10 | 2025-05-15 |
| Pediatric Neurogenetic Diagnosis Support Platform Web-Based Application - Genetic Disease, Neurogenetic Disorders | Not applicable | Recruiting | Universidad Nacional Andres Bello | 9 | 2024-12-10 | 2025-05-29 |
| 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 |
| Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing microfluidic chip, density gradient centrifugation - Infertility, Genetic Disease | Not applicable | Recruiting | Professor Ernest Hung-Yu Ng | 318 | 2024-11-01 | 2024-12-06 |
| Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy Antisense oligonucleotide treatment (ASO) - Genetic Disease | Phase 1 / Phase 2 | Enrolling by invitation | Massachusetts General Hospital | 1 | 2024-09-18 | 2026-03-02 |
| Prospective Cohort Study of Neurogenetic Diseases Patient cohort, Control cohort - Genetic Disease, Nervous System Diseases | Not applicable | Recruiting | University Hospital, Bordeaux | 150 | 2024-07-18 | 2025-02-25 |
| The Natural History of Mitochondrial Diseases Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain - Mitochondrial Diseases, Neurological Diseases or Conditions | Recruiting | Neuroscience Research Australia | 500 | 2024-05-07 | 2026-04-20 | |
| Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia Thalidomide - Fetal Hemoglobin, Thalassemia Major | Phase 2 | Recruiting | National Institute of Blood and Marrow Transplant (NIBMT), Pakistan | 54 | 2024-04-22 | 2025-05-30 |
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Genetic Diseases, Inborn (115) · Rare Diseases (10) · Congenital Abnormalities (5) · Cardiovascular Diseases (4) · Learning Disabilities (4) · Nervous System Diseases (4) · Aneuploidy (3) · Arrhythmias, Cardiac (3) · Cerebral Palsy (3) · Disease (3) · Genetic Predisposition to Disease (3) · Infertility (3) · Metabolism, Inborn Errors (3) · Neoplasms (3) · Neuromuscular Diseases (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (114) · Pathological Conditions, Signs and Symptoms (40) · Pathologic Processes (28) · Nervous System Diseases (17) · Nutritional and Metabolic Diseases (15) · Disease Attributes (14) · Signs and Symptoms (13) · Metabolic Diseases (12) · Brain Diseases (11) · Central Nervous System Diseases (10) · Cardiovascular Diseases (8) · Mental Disorders (8) · Neurologic Manifestations (8) · Heart Diseases (7) · Neurodevelopmental Disorders (7)
Blood Specimen Collection (5) · Genetic Testing (4) · Surveys and Questionnaires (4) · ELX-02 (3) · Exome Sequencing (2) · Magnetic Resonance Imaging (2) · Specimen Handling (2) · nedosiran (2) · Base Sequence (1) · Centrifugation, Density Gradient (1) · Cord Blood Stem Cell Transplantation (1) · Echocardiography (1) · Educational Status (1) · Electroencephalography (1) · Electronic Health Records (1)
National Human Genome Research Institute (NHGRI) (5) · Boston Children's Hospital (3) · Children's Hospital of Philadelphia (3) · Eloxx Pharmaceuticals, Inc. (3) · University of California, San Diego (3) · Central Hospital, Nancy, France (2) · Columbia University (2) · Duke University (2) · Grand Valley State University (2) · Hacettepe University (2) · Hospices Civils de Lyon (2) · Igentify Ltd (2) · Maastricht University Medical Center (2) · Nantes University Hospital (2) · Rady Pediatric Genomics & Systems Medicine Institute (2)
United States (49) · France (14) · Italy (11) · China (8) · United Kingdom (8) · Netherlands (6) · Canada (5) · Turkey (Türkiye) (5) · Australia (4) · Belgium (4) · Denmark (3) · Germany (3) · Spain (3) · Croatia (2) · Hong Kong (2)
Stephen Kingsmore, MD DSc (2) · Abigail Hyland, MBBS (1) · Ajoy Vincent, MS (1) · Ali Crawford, PhD (1) · Amena S Fine, MD PhD (1) · Angela Bradbury, MD (1) · Ashley Barnes, BSc (1) · Barbara B Biesecker (1) · Benedetto Falsini, MD (1) · Bryn Webb, MD (1) · Carlo Dionisi-Vici, MD (1) · Carolyn M Sue, MBBS (1)
PMID 40193200, PMID 40601241, PMID 18421352, PMID 18714091, PMID 19246620, PMID 19679224, PMID 19915526, PMID 20111037, PMID 20705737, PMID 21300712, PMID 21939903, PMID 22348076, PMID 22723612, PMID 23443509, PMID 24099334, PMID 24687081, PMID 25306222, PMID 25986472, PMID 26269293, PMID 26873093, PMID 27224997, PMID 28324009, PMID 28851729, PMID 28917688, PMID 28923013, PMID 29634829, PMID 30042363, PMID 31146700, PMID 31618812, PMID 32395210, PMID 33317729, PMID 33465285, PMID 33847032, PMID 33861209, PMID 34051169, PMID 34127041, PMID 34229325, PMID 34354735, PMID 34764932, PMID 35351406, PMID 35383466, PMID 36007597, PMID 36621880, PMID 36931261, PMID 37100424, PMID 37204382, PMID 37221613, PMID 37246632, PMID 38815230, PMID 38977655
1UG3HL152323 (1), 2019 (1), R01DK112955 (1), R01HD055651 (1), R01HG010092 (1), R21HG011912 (1), U01HG006487 (1), U01HL133964 (1)