22 completed, 4 active not recruiting, 3 recruiting, 2 enrolling by invitation. 6 Phase 3, 3 Not applicable, 3 Phase 4, 2 Phase 2, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 3 | 6 | Completed 6 |
| Not applicable | 3 | Active not recruiting 2, Not yet recruiting 1 |
| Phase 4 | 3 | Completed 3 |
| Phase 2 | 2 | Terminated 2 |
| Phase 1 | 1 | Completed 1 |
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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 |
|---|---|---|---|---|---|---|
| Multicenter Epidemiological Study for the Evaluation of the Seroprevalence of Total and Neutralizing Antibodies Against Adenoassociated Virus Serotypes Used in Gene Therapy in Patients With Neuromuscular Diseases of Genetic Origin. Dosage of AAV neutralizing antibodies - Neuromuscular Deficits, Genetic Disorder | Not applicable | Not yet recruiting | Genethon | 450 | 2026-07-31 | 2026-06-08 |
| Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau Disease 3RP-VHL - Von Hippel-Lindau Disease, Genetic Disorder | Not applicable | Active not recruiting | Massachusetts General Hospital | 40 | 2024-07-30 | 2026-06-12 |
| SLC13A5 Deficiency Natural History Study - United States Only Citrate Transporter Deficiency, Epilepsy | Enrolling by invitation | TESS Research Foundation | 17 | 2021-12-01 | 2025-08-05 | |
| SLC13A5 Deficiency Natural History Study - Remote Only Citrate Transporter Deficiency, Epilepsy | Enrolling by invitation | TESS Research Foundation | 20 | 2021-03-01 | 2024-11-22 | |
| Evaluation of Association Between Testosterone Levels, Dementia, and Adverse Mental Health Outcomes Electronic Health Record Review - Anxiety Disorder, Depression | Active not recruiting | M.D. Anderson Cancer Center | 1 | 2020-02-13 | 2026-02-19 | |
| DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis, Genetic Counseling - Genetic Disorder | Not applicable | Active not recruiting | Mayo Clinic | 110000 | 2020-01-22 | 2026-06-10 |
| Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Somatropin - Genetic Disorder, Noonan Syndrome | Completed | Novo Nordisk A/S | 71 | 2018-02-26 | 2022-11-14 | |
| Delineation of Novel Monogenic Disorders in the United Arab Emirates Population Sanger and/or Next Generation Sequencing (NGS) - Mendelian Disorders, Genetic Disorder | Unknown | Imperial College London Diabetes Centre | 150 | 2018-01-01 | 2020-02-12 | |
| Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART Genetic Disease, Cardiac Disease | Recruiting | University Hospital of Ferrara | 200 | 2017-11-01 | 2025-03-27 | |
| Molecular Typing of Community-acquired Pneumonia Based on Multiple-omic Data Analysis Respiratory Infections, Genetic Disorder | Unknown | Peking University People's Hospital | 500 | 2017-03-01 | 2017-03-28 | |
| Pediatric Patients With Metabolic or Other Genetic Disorders Genetic Disorder, Asperger Disorder | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 96 | 2016-05-03 | 2026-10-02 | |
| Lipid Transport Disorder Italian Genetic Record (LIPIGEN) Lipid-lowering treatments - Familial Hypercholesterolemia, Genetic Disorder | Recruiting | Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) | 15000 | 2015-08-04 | 2026-11-10 | |
| Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage PGS - Genetic Disorder, Fertility Disorders | Completed | Yeh | 500 | 2014-12-01 | 2017-02-27 | |
| Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy Genetic Disorder | Active not recruiting | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 11 | 2014-11-03 | 2026-10-26 | |
| Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome somatropin - Genetic Disorder, Noonan Syndrome | Phase 3 | Completed | Novo Nordisk A/S | 51 | 2013-08-19 | 2020-08-10 |
| A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin somatropin - Genetic Disorder, Achondroplasia | Completed | Novo Nordisk A/S | 81 | 2012-11-22 | 2017-05-05 | |
| Inherited Reproductive Disorders Genetic Disorder, Infertility | Recruiting | National Institute of Environmental Health Sciences (NIEHS) | 850 | 2012-04-25 | 2026-10-26 | |
| Brain-Derived Neurotrophic Factor in Obesity and Brain Function Obesity, Genetic Disorder | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 93 | 2012-01-09 | 2019-12-17 | |
| Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers somatropin - Genetic Disorder, Prader-Willi Syndrome | Phase 1 | Completed | Novo Nordisk A/S | 30 | 2011-07-14 | 2017-02-24 |
| Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone Norditropin NordiFlex® - Growth Hormone Disorder, Growth Hormone Deficiency in Children | Completed | Novo Nordisk A/S | 77 | 2011-04-01 | 2014-06-24 |
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Genetic Diseases, Inborn (36) · Turner Syndrome (10) · Noonan Syndrome (5) · Learning Disabilities (3) · Prader-Willi Syndrome (3) · Renal Insufficiency, Chronic (3) · Achondroplasia (2) · Epilepsy (2) · Growth Disorders (2) · Kohlschutter Tonz syndrome (2) · Metabolic Diseases (2) · Movement Disorders (2) · Rare Diseases (2) · Amenorrhea (1) · Anemia, Aplastic (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (36) · Congenital Abnormalities (20) · Cardiovascular Diseases (16) · Cardiovascular Abnormalities (14) · Chromosome Disorders (14) · Heart Defects, Congenital (14) · Heart Diseases (14) · Pathological Conditions, Signs and Symptoms (12) · Disorders of Sex Development (11) · Endocrine System Diseases (11) · Female Urogenital Diseases (11) · Female Urogenital Diseases and Pregnancy Complications (11) · Gonadal Disorders (11) · Male Urogenital Diseases (11) · Sex Chromosome Disorders (11)
Human Growth Hormone (15) · Antilymphocyte Serum (1) · Cyclophosphamide (1) · Estradiol (1) · Estrogens (1) · Genetic Counseling (1) · Growth Hormone (1) · Mycophenolic Acid (1) · Sirolimus (1) · Specimen Handling (1) · Tacrolimus (1) · Whole-Body Irradiation (1) · fludarabine phosphate (1) · thymoglobulin (1)
Novo Nordisk A/S (18) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (4) · TESS Research Foundation (2) · Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) (1) · Fred Hutchinson Cancer Center (1) · Genethon (1) · Imperial College London Diabetes Centre (1) · M.D. Anderson Cancer Center (1) · Massachusetts General Hospital (1) · Mayo Clinic (1) · National Institute of Environmental Health Sciences (NIEHS) (1) · Peking University People's Hospital (1) · The Hospital for Sick Children (1) · University Hospital of Ferrara (1) · Yeh (1)
United States (12) · France (5) · Japan (5) · Germany (3) · Italy (3) · Sweden (3) · Canada (2) · Denmark (2) · Israel (2) · Netherlands (2) · Spain (2) · Switzerland (2) · United Kingdom (2) · Argentina (1) · Belgium (1)
Brenda E Porter, MD, PhD (2) · Alberico L Catapano, PhD (1) · Cristina Balla, MD PhD (1) · Forbes D Porter, M.D. (1) · Giselle Perez, PhD (1) · Houman Ashrafian, DPhil FRCP (1) · Jack A Yanovski, M.D. (1) · Joshua J Zimmerberg, M.D. (1) · Judy Liu, MD, PhD (1) · Kanwaldeep Mallhi (1) · Kevin Nead (1) · Kimberly Goodspeed, MD, PhD (1) · Konstantinos N. Lazaridis, M.D. (1)
PMID 41285480, PMID 10518081, PMID 10599727, PMID 10599729, PMID 12466334, PMID 12629094, PMID 15900109, PMID 16203673, PMID 22508317, PMID 22788856, PMID 23632904, PMID 23658497, PMID 23737664, PMID 26903552, PMID 27280591, PMID 27736009, PMID 28522645, PMID 28965615, PMID 28982142, PMID 29109363, PMID 29368632, PMID 29718281, PMID 29759075, PMID 30557448, PMID 31046764, PMID 31305924, PMID 31972476, PMID 32269181, PMID 32480405, PMID 32870266, PMID 33571362, PMID 33694084, PMID 33709288, PMID 34692846, PMID 36947589, PMID 37480410, PMID 37850681, PMID 38259459, PMID 39013133, PMID 39625429, PMID 40774460, PMID 40919719, PMID 41221644, PMID 8923853
2008 (2), 2005 (1), 2009 (1), P01HL122173 (1), P30CA015704 (1)