lysosomal acid lipase deficiency
Information
- Disease name
- lysosomal acid lipase deficiency
- Disease ID
- DOID:0080217
- Description
- "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31." [url:https\://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, url:https\://www.ncbi.nlm.nih.gov/books/NBK395569/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01757184 | Completed | Phase 3 | Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency | January 22, 2013 | December 11, 2018 |
| NCT02112994 | Completed | Phase 2 | Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency | June 24, 2014 | December 28, 2017 |
| NCT01371825 | Completed | Phase 2/Phase 3 | Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency | May 4, 2011 | January 3, 2018 |
| NCT01488097 | Completed | Phase 2 | Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency | December 12, 2011 | June 21, 2017 |
| NCT01528917 | Completed | An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype | June 2011 | May 2013 | |
| NCT01358370 | Completed | A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype | November 2010 | March 2013 | |
| NCT01307098 | Completed | Phase 1/Phase 2 | Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency | April 25, 2011 | January 6, 2012 |
| NCT05368038 | Enrolling by invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | May 10, 2021 | July 31, 2026 | |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT02376751 | No longer available | An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency | |||
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT01633489 | Recruiting | Lysosomal Acid Lipase (LAL) Deficiency Registry | December 31, 2012 | June 30, 2029 | |
| NCT03984149 | Recruiting | Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects) | September 1, 2017 | July 1, 2023 | |
| NCT02345421 | Terminated | A Study to Identify and Characterize LAL-D Patients in High-risk Populations | December 2014 | October 2015 | |
| NCT02193867 | Terminated | Phase 2 | Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency | June 6, 2014 | October 30, 2018 |
| NCT02926872 | Terminated | Screening for Lysosomal Acid Lipase Deficiency | November 2016 | June 5, 2017 | |
| NCT03564002 | Unknown status | Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity | October 1, 2016 | December 31, 2022 | |
| NCT01716728 | Unknown status | N/A | Identification of Undiagnosed Lysosomal Acid Lipase Deficiency | August 2012 |
- Disase is a (Disease Ontology)
- DOID:9455
- Cross Reference ID (Disease Ontology)
- GARD:12097
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.5
- Cross Reference ID (Disease Ontology)
- MIM:PS278000
- Cross Reference ID (Disease Ontology)
- ORDO:275761
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C5574740
- Exact Synonym (Disease Ontology)
- LAL deficiency
- Exact Synonym (Disease Ontology)
- LAL-D
- OrphaNumber from OrphaNet (Orphanet)
- 275761