8 completed, 4 terminated, 3 unknown, 1 active not recruiting. 5 Phase 2, 2 Phase 3, 1 Not applicable, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 5 | Completed 4, Terminated 1 |
| Phase 3 | 2 | Completed 2 |
| Not applicable | 1 | Unknown 1 |
| Phase 1 | 1 | Completed 1 |
Follow Lysosomal Acid Lipase Deficiency: new trials by email Literature Review of Lysosomal Acid Lipase Deficiency trials Research Report on Lysosomal Acid Lipase Deficiency
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 |
|---|---|---|---|---|---|---|
| Lysosomal Acid Lipase Deficiency in Risk Groups Lysosomal Acid Lipase Deficiency | Terminated | AstraZeneca | 25 | 2026-02-25 | 2026-07-08 | |
| 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 | |
| ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Confirmatory Testing - Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2 | Enrolling by invitation | Albert Einstein College of Medicine | 100000 | 2021-05-10 | 2026-07-28 | |
| 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 | |
| Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects) Observational study - Lysosomal Acid Lipase Deficiency | Unknown | Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) | 1000 | 2017-09-01 | 2022-07-29 | |
| Screening for Lysosomal Acid Lipase Deficiency There is no intervention in the study - Lysosomal Acid Lipase Deficiency | Terminated | Alexion Pharmaceuticals, Inc. | 22 | 2016-11-01 | 2017-06-16 | |
| Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity Lysosomal Acid Lipase Deficiency, Obesity | Unknown | University Of Perugia | 60 | 2016-10-01 | 2020-03-09 | |
| A Study to Identify and Characterize LAL-D Patients in High-risk Populations Lysosomal Acid Lipase Deficiency | Terminated | Alexion Pharmaceuticals, Inc. | 640 | 2014-12-01 | 2016-05-24 | |
| Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency Sebelipase Alfa - Lysosomal Acid Lipase Deficiency | Phase 2 | Completed | Alexion Pharmaceuticals, Inc. | 31 | 2014-06-24 | 2019-12-04 |
| Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Sebelipase Alfa - Lysosomal Acid Lipase Deficiency | Phase 2 | Terminated | Alexion Pharmaceuticals, Inc. | 10 | 2014-06-06 | 2019-11-18 |
| Lysosomal Acid Lipase (LAL) Deficiency Registry Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease | Recruiting | Alexion Pharmaceuticals, Inc. | 300 | 2013-05-30 | 2026-03-06 | |
| Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency Sebelipase Alfa, Placebo - Lysosomal Acid Lipase Deficiency | Phase 3 | Completed | Alexion Pharmaceuticals, Inc. | 66 | 2013-01-22 | 2020-12-29 |
| Identification of Undiagnosed Lysosomal Acid Lipase Deficiency enzyme analysis - Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease | Not applicable | Unknown | Massachusetts General Hospital | 60 | 2012-08-01 | 2013-08-13 |
| Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency sebelipase alfa - Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency | Phase 2 | Completed | Alexion Pharmaceuticals, Inc. | 8 | 2011-12-12 | 2018-07-20 |
| An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency | Completed | Alexion Pharmaceuticals, Inc. | 49 | 2011-06-01 | 2016-07-20 | |
| Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Sebelipase alfa (SBC-102) - Lysosomal Acid Lipase Deficiency, Wolman Disease | Phase 2 / Phase 3 | Completed | Alexion Pharmaceuticals, Inc. | 9 | 2011-05-04 | 2019-01-30 |
| Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency Sebelipase alfa 0.35 mg/kg, Sebelipase alfa 1 mg/kg, Sebelipase alfa 3 mg/kg - Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency | Phase 1 / Phase 2 | Completed | Alexion Pharmaceuticals, Inc. | 9 | 2011-04-25 | 2018-12-11 |
| A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Lysosomal Acid Lipase Deficiency, Wolman Disease | Completed | Alexion Pharmaceuticals, Inc. | 40 | 2010-11-01 | 2016-06-27 | |
| An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency sebelipase alfa - Lysosomal Acid Lipase Deficiency | No longer available | Alexion Pharmaceuticals, Inc. | 2016-06-08 |
Wolman Disease (19) · Cholesterol Ester Storage Disease (10) · Lysosomal Storage Diseases (7) · Leukodystrophy, Metachromatic (3) · Mucopolysaccharidosis II (3) · Mucopolysaccharidosis IV (3) · Mucopolysaccharidosis VI (3) · Mucopolysaccharidosis VII (3) · Niemann-Pick Diseases (3) · Non-alcoholic Fatty Liver Disease (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)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (19) · Nutritional and Metabolic Diseases (19) · Genetic Diseases, Inborn (18) · Infant, Newborn, Diseases (18) · Lipid Metabolism Disorders (18) · Lipid Metabolism, Inborn Errors (18) · Lipidoses (18) · Metabolism, Inborn Errors (18) · Metabolic Diseases (17) · Lysosomal Storage Diseases (12) · Cholesterol Ester Storage Disease (9) · Brain Diseases (5) · Brain Diseases, Metabolic (5) · Brain Diseases, Metabolic, Inborn (5) · Central Nervous System Diseases (5)
Sebelipase alfa (7) · Observation (1) · Restriction Mapping (1)
Alexion Pharmaceuticals, Inc. (12) · Albert Einstein College of Medicine (1) · AstraZeneca (1) · Centre Hospitalier Universitaire de Liege (1) · Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) (1) · Massachusetts General Hospital (1) · RTI International (1) · University Of Perugia (1)
United States (14) · United Kingdom (9) · Italy (8) · France (7) · Canada (5) · Czechia (5) · Russia (4) · Australia (3) · Belgium (3) · Croatia (3) · Germany (3) · Mexico (3) · Spain (3) · Brazil (2) · Ireland (2)
Curt Scharfe, MD, PhD (1) · Florian Abel, MD (1) · Katherine B Sims, MD (1) · Laurent Servais (1) · Maurizio Averna (1) · Melissa Wasserstein, MD (1)
PMID 23348766, PMID 24993530, PMID 26252914, PMID 28320214, PMID 31249784, PMID 31315600, PMID 32657505, PMID 34774639, PMID 35142618, PMID 35442238, PMID 37222260, PMID 40781810
2019 (1), R01HD073292 (1)