24 completed, 7 recruiting, 2 terminated, 1 not yet recruiting. 36 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Phase 4 | 36 | Completed 24, Recruiting 7, Terminated 2, Not yet recruiting 1, Unknown 1, Withdrawn 1 |
Follow Chromosome Disorders: new trials by email Literature Review of Chromosome Disorders trials Research Report on Chromosome Disorders
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 |
|---|---|---|---|---|---|---|
| Amyloid Lowering for Alzheimer's in Down's With Donanemab Investigation Donanemab, Placebo - Down Syndrome (DS), Down Syndrome (Trisomy 21) | Phase 4 | Not yet recruiting | Michael Rafii, MD, PhD | 60 | 2026-08-01 | 2026-05-15 |
| Endotype DIrected Treatment for OSA in Down Syndrome ato-oxy, Oxygen - Obstructive Sleep Apnea (OSA), Down Syndrome | Phase 4 | Recruiting | University of Arizona | 200 | 2026-03-14 | 2026-09-03 |
| Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome Micronized progesterone 200 MG, Micronized Progesterone 100 MG - Turner Syndrome, Primary Ovarian Insufficiency (Poi) | Phase 4 | Recruiting | Children's Mercy Hospital Kansas City | 40 | 2025-07-31 | 2026-08-25 |
| Tirzepatide in PWS, HO and GNSO Tirzepatide - Prader-Willi Syndrome, Hypothalamic Obesity | Phase 4 | Recruiting | Grace Kim | 36 | 2025-05-01 | 2025-09-16 |
| Klinefelter Syndrome and Testosterone Treatment in Puberty Testosterone gel, Placebo - Klinefelter Syndrome | Phase 4 | Recruiting | Lise Aksglæde | 32 | 2024-08-15 | 2025-02-19 |
| Fluoxetine Treatment of Depression in Down Syndrome Fluoxetine - Down Syndrome, Depression | Phase 4 | Completed | Massachusetts General Hospital | 4 | 2022-12-05 | 2025-03-30 |
| Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome Fenofibrate 145 mg - Klinefelter Syndrome | Phase 4 | Unknown | University of Colorado, Denver | 44 | 2022-11-03 | 2024-10-16 |
| Metformin in Children With Fragile X Syndrome Metformin, Placebo - Fragile X Syndrome, Metformin | Phase 4 | Completed | Children's Hospital of Fudan University | 37 | 2021-12-29 | 2026-08-25 |
| Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome 17-beta estradiol - Turner Syndrome, Hypogonadism; Ovarian | Phase 4 | Recruiting | Aarhus University Hospital | 50 | 2021-11-29 | 2024-08-26 |
| Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome 17-beta estradiol - Turner Syndrome, Hypogonadism; Ovarian | Phase 4 | Recruiting | Aarhus University Hospital | 50 | 2021-11-29 | 2024-08-23 |
| Buspirone Treatment of Anxiety in Williams Syndrome Buspirone - Williams Syndrome, Anxiety | Phase 4 | Completed | Massachusetts General Hospital | 20 | 2021-08-01 | 2024-12-03 |
| Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients Liquid stable levothyroxine (L-T4) Tirosint-SOL, Oral tablet levothyroxine (L-T4) - Hypothyroidism, Trisomy 21 | Phase 4 | Terminated | Children's Mercy Hospital Kansas City | 6 | 2021-01-18 | 2023-09-13 |
| Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome Guanfacine Extended Release, Placebo - Prader-Willi Syndrome, Aggression | Phase 4 | Completed | Maimonides Medical Center | 15 | 2020-12-17 | 2024-08-19 |
| Evaluating Treatment of ADHD in Children With Down Syndrome Quillivant XR, Placebo - Down Syndrome, ADHD | Phase 4 | Completed | Children's Hospital Medical Center, Cincinnati | 44 | 2020-10-02 | 2026-11-02 |
| Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome Placebo, Guanfacine extended release (GXR) - Prader-Willi Syndrome | Phase 4 | Withdrawn | NYU Langone Health | 2019-12-01 | 2020-08-26 | |
| TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline - Klinefelter Syndrome | Phase 4 | Completed | University of Colorado, Denver | 72 | 2017-11-06 | 2022-05-06 |
| GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition Growth hormone, Placebo - Prader-Willi Syndrome | Phase 4 | Completed | Corporacion Parc Tauli | 30 | 2017-06-19 | 2021-01-27 |
| Human Fibrinogen Concentrate in Pediatric Cardiac Surgery RiaStAP, Saline - Hypofibrinogenemia, Afibrinogenemia | Phase 4 | Completed | Nicklaus Children's Hospital f/k/a Miami Children's Hospital | 30 | 2017-06-01 | 2021-09-16 |
| Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Medical Air vs Oxygen - Sleep Apnea, Central, Prader-Willi Syndrome | Phase 4 | Completed | The Hospital for Sick Children | 9 | 2016-09-01 | 2025-06-08 |
| Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Somatropin - Short Stature, Idiopathic, Infant, Small for Gestational Age | Phase 4 | Completed | LG Life Sciences | 116 | 2016-08-11 | 2019-01-03 |
Showing 20 of 36. Sign in to see all of them.
Turner Syndrome (13) · Prader-Willi Syndrome (7) · Down Syndrome (6) · Genetic Diseases, Inborn (5) · Dwarfism, Pituitary (4) · Fragile X Syndrome (4) · Klinefelter Syndrome (4) · Hypogonadism (3) · Intellectual Disability (2) · Neurobehavioral Manifestations (2) · Obesity (2) · Primary Ovarian Insufficiency (2) · Williams Syndrome (2) · Abnormalities, Multiple (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (36) · Congenital Abnormalities (35) · Genetic Diseases, Inborn (31) · Endocrine System Diseases (22) · Nervous System Diseases (21) · Sex Chromosome Disorders (21) · Disorders of Sex Development (18) · Female Urogenital Diseases (18) · Female Urogenital Diseases and Pregnancy Complications (18) · Gonadal Disorders (18) · Male Urogenital Diseases (18) · Neurologic Manifestations (18) · Urogenital Abnormalities (18) · Urogenital Diseases (18)
Human Growth Hormone (7) · Estradiol (4) · Growth Hormone (3) · Fluoxetine (2) · Methylphenidate (2) · estradiol, estriol drug combination (2) · Absorptiometry, Photon (1) · Atomoxetine Hydrochloride (1) · Biopsy (1) · Blood Specimen Collection (1) · Buspirone (1) · Estrogens (1) · Fenofibrate (1) · Fibrinogen (1) · Guanfacine (1)
University of Colorado, Denver (4) · Merck KGaA, Darmstadt, Germany (3) · Novo Nordisk A/S (3) · Aarhus University Hospital (2) · Children's Mercy Hospital Kansas City (2) · Massachusetts General Hospital (2) · Children's Hospital Medical Center, Cincinnati (1) · Children's Hospital of Fudan University (1) · Corporacion Parc Tauli (1) · Eli Lilly and Company (1) · Grace Kim (1) · Indiana University (1) · LG Life Sciences (1) · Line Cleemann (1) · Lise Aksglæde (1)
United States (18) · France (6) · Canada (4) · Denmark (4) · Spain (3) · Argentina (2) · Germany (2) · Italy (2) · Sweden (2) · United Kingdom (2) · Australia (1) · Austria (1) · Chile (1) · China (1) · Czechia (1)
Claus H Gravholt, Professor (2) · Deepan Singh, MD (2) · Shanlee M Davis, MD (2) · Alberto Costa, MD, Ph.D (1) · Anna Esbensen, PhD (1) · Benjamin Handen, MD (1) · Christopher Tirotta, MD (1) · Craig A. Erickson, MD (1) · Daniel Combs, MD (1) · Edward Goldson, MD (1) · Gilles Della Corte (1) · Jason Kong, MD, FRCPC (1)
PMID 10518081, PMID 10599727, PMID 10599729, PMID 12466334, PMID 12629094, PMID 15900109, PMID 21059347, PMID 21398400, PMID 21880799, PMID 22806212, PMID 23567489, PMID 23678038, PMID 23737664, PMID 24406482, PMID 24916642, PMID 26340968, PMID 29618660, PMID 30571546, PMID 31613320, PMID 31908426, PMID 32316911, PMID 34040195, PMID 34045667, PMID 35305111, PMID 38561465, PMID 40090688, PMID 41291951, PMID 8923853
2009 (1), 2017 (1), 2023 (1), K23HD092588 (1), R33AG066543 (1), UL1TR001082 (1)