lysosomal storage disease
Information
- Disease name
- lysosomal storage disease
- Disease ID
- DOID:3211
- Description
- "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." [url:http\://en.wikipedia.org/wiki/Lysosomal_storage_disease]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01560182 | Active, not recruiting | Phase 1/Phase 2 | Gene Therapy for Metachromatic Leukodystrophy (MLD) | April 9, 2010 | March 15, 2025 |
| NCT03392987 | Active, not recruiting | Phase 2 | A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) | January 25, 2018 | April 3, 2028 |
| NCT00744692 | Completed | Phase 1 | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders | October 2008 | April 2014 |
| NCT00001671 | Completed | The Classification and Cause of Leukodystrophies of Unknown Cause | September 9, 1997 | December 15, 2008 | |
| NCT00852358 | Completed | N/A | A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I | June 2009 | April 2015 |
| NCT00001780 | Completed | Magnetic Stimulation of the Human Nervous System | February 1998 | November 2005 | |
| NCT01626092 | Completed | N/A | Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders | July 11, 2012 | November 2013 |
| NCT00046202 | Recruiting | Study of Inborn Errors of Cholesterol Synthesis and Related Disorders | October 9, 2002 | ||
| NCT00786968 | Terminated | Phase 1 | Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I | January 2008 | October 2011 |
| NCT01458613 | Withdrawn | Biomarker for Maroteaux-Lamy Disease (BioMaroteaux) | August 20, 2018 | February 28, 2021 |
- Disase is a (Disease Ontology)
- DOID:655
- Cross Reference ID (Disease Ontology)
- MESH:D016464
- Cross Reference ID (Disease Ontology)
- NCI:C61250
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:23585005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085078
- Exact Synonym (Disease Ontology)
- disorder of lysosomal enzyme
- Exact Synonym (Disease Ontology)
- inborn lysosomal enzyme disorder
- Exact Synonym (Disease Ontology)
- lysosomal storage metabolism disorder