10 completed, 2 recruiting, 2 unknown, 1 active not recruiting. 3 Phase 2, 3 Phase 3, 2 Not applicable, 1 Early Phase 1, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 3 | Completed 3 |
| Phase 3 | 3 | Completed 2, Unknown 1 |
| Not applicable | 2 | Completed 1, Unknown 1 |
| Early Phase 1 | 1 | Completed 1 |
| Phase 1 | 1 | Completed 1 |
Follow Galactosemias: new trials by email Literature Review of Galactosemias trials Research Report on Galactosemias
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 |
|---|---|---|---|---|---|---|
| Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia Galactosemia | Recruiting | IRCCS Azienda Ospedaliero-Universitaria di Bologna | 60 | 2025-02-12 | 2026-03-10 | |
| Baby Detect : Genomic Newborn Screening Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1 | Completed | Centre Hospitalier Universitaire de Liege | 6824 | 2022-09-01 | 2025-08-12 | |
| AT-007 in Adult Subjects With Classic Galactosemia (CG) AT-007 - Classic Galactosemia | Phase 3 | Unknown | Applied Therapeutics, Inc. | 7 | 2021-10-01 | 2022-06-14 |
| Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy Turner Syndrome, Post-menarcheal Adolescents | Recruiting | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 200 | 2021-09-13 | 2026-10-22 | |
| Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia AT-007, Placebo - Classic Galactosemia | Phase 2 / Phase 3 | Completed | Applied Therapeutics, Inc. | 47 | 2021-03-20 | 2025-10-29 |
| Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia AT-007, Placebo - Classic Galactosemia | Phase 1 / Phase 2 | Completed | Applied Therapeutics, Inc. | 114 | 2019-06-21 | 2024-05-30 |
| Preventing Speech and Language Disorders in Children With Classic Galactosemia Babble Boot Camp - Classic Galactosemia, Speech Disorders in Children | Early Phase 1 | Completed | Arizona State University | 285 | 2019-05-01 | 2026-01-23 |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 | |
| The Effect of Arginine on Classic Galactosemia Arginine Aspartate - Classic Galactosemia | Phase 2 | Completed | Academisch Ziekenhuis Maastricht | 4 | 2017-12-05 | 2018-09-27 |
| Efficacy Study Between Two Different Dosages of an Antiparasitic in Patients With Crusted Scabies Ivermectin 200 µg/kg, Ivermectin 400 µg/kg - Gale, Severe Forms of Scabies | Phase 3 | Completed | Assistance Publique - Hôpitaux de Paris | 133 | 2017-10-11 | 2023-09-22 |
| Intervention and Outcomes in Duarte Galactosemia Duarte Galactosemia | Completed | Emory University | 566 | 2015-07-01 | 2019-09-19 | |
| Pregnancy Chances in Classic Galactosemia Galactosemias, Primary Ovarian Insufficiency | Completed | Maastricht University Medical Center | 85 | 2014-03-01 | 2016-09-13 | |
| Glycosylation in Patients With Galactosaemia lactose-free diet, Temporary oral galactose supplements - Classical Galactosaemia | Not applicable | Completed | Children's University Hospital, Ireland | 26 | 2012-07-01 | 2014-08-18 |
| Inactive FSH in Galactosemia follitropin and lutropin - Galactosemia, Premature Ovarian Failure | Not applicable | Unknown | Maastricht University Medical Center | 25 | 2007-03-01 | 2010-01-12 |
| The Early History of Universal Screening for Metabolic Disorders Phenylketonuria, Galactosemia | Completed | University of Miami | 10 | 2006-01-01 | 2014-08-20 |
Phenylketonurias (3) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · Acidemia, isovaleric (2) · Anemia, Sickle Cell (2) · Argininosuccinic Aciduria (2) · Ataxia with vitamin E deficiency (2) · Basal ganglia disease, biotin-responsive (2) · Beta ketothiolase deficiency (2) · Biotinidase Deficiency (2) · Brown-Vialetto-Van Laere syndrome (2) · Carbamoyl-Phosphate Synthase I Deficiency Disease (2) · Carnitine palmitoyl transferase 1A deficiency (2) · Carnitine palmitoyl transferase 2 deficiency (2) · Carnitine-Acylcarnitine Translocase Deficiency (2)
Brain Diseases (15) · Brain Diseases, Metabolic (15) · Brain Diseases, Metabolic, Inborn (15) · Carbohydrate Metabolism, Inborn Errors (15) · Central Nervous System Diseases (15) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (15) · Genetic Diseases, Inborn (15) · Metabolic Diseases (15) · Nervous System Diseases (15) · Nutritional and Metabolic Diseases (15) · Metabolism, Inborn Errors (14) · Endocrine System Diseases (5) · Female Urogenital Diseases (5) · Female Urogenital Diseases and Pregnancy Complications (5) · Urogenital Diseases (5)
Follicle Stimulating Hormone (1) · Ivermectin (1) · Luteinizing Hormone (1) · arginine aspartate (1)
Applied Therapeutics, Inc. (3) · Maastricht University Medical Center (2) · Academisch Ziekenhuis Maastricht (1) · Arizona State University (1) · Assistance Publique - Hôpitaux de Paris (1) · Centre Hospitalier Universitaire de Liege (1) · Children's University Hospital, Ireland (1) · Emory University (1) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (1) · IRCCS Azienda Ospedaliero-Universitaria di Bologna (1) · RTI International (1) · University of Miami (1)
United States (8) · Netherlands (3) · Belgium (1) · France (1) · Ireland (1) · Italy (1)
Curt Scharfe, MD, PhD (1) · Eileen Treacy, MD, Prof (1) · Estela Rubio-Gozalbo, MD, PhD (1) · Jeffrey P Brosco, MD, PhD (1) · Jonathan W Mink, MD (1) · Judith Fridovich-Keil, PhD (1) · Laurent Servais (1) · M. Estela Rubio-Gozalbo, Dr (1) · Robert Green, MD, MPH (1) · Susan E Waisbren, PhD (1) · Veronica Gomez-Lobo, M.D. (1)
PMID 23430559, PMID 24359113, PMID 30477550, PMID 31315600, PMID 32566130, PMID 34665663, PMID 35142618, PMID 35677809, PMID 36251874, PMID 37146603, PMID 37235746, PMID 38988185, PMID 39569553, PMID 42090793