mucopolysaccharidosis
Information
- Disease name
- mucopolysaccharidosis
- Disease ID
- DOID:12798
- Description
- "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05006222 | Completed | N/A | The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis | February 1, 2020 | March 27, 2021 |
| NCT01043640 | Completed | Phase 2 | Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders | December 2009 | June 2017 |
| NCT02230566 | Completed | Phase 3 | A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) | December 2014 | May 2016 |
| NCT02418455 | Completed | Phase 2 | Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age | July 21, 2015 | March 26, 2019 |
| NCT02432144 | Completed | Phase 3 | A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) | November 10, 2015 | January 14, 2019 |
| NCT00654433 | Terminated | Phase 3 | ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases | March 2008 | November 2011 |
| NCT01238328 | Unknown status | Phase 2/Phase 3 | Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis | September 2009 | December 2012 |
| NCT01695161 | Unknown status | Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer. | September 2012 |
- Disase is a (Disease Ontology)
- DOID:3211
- Cross Reference ID (Disease Ontology)
- GARD:7065
- Cross Reference ID (Disease Ontology)
- ICD10CM:E76.3
- Cross Reference ID (Disease Ontology)
- ICD9CM:277.5
- Cross Reference ID (Disease Ontology)
- MESH:D009083
- Cross Reference ID (Disease Ontology)
- MIM:PS607014
- Cross Reference ID (Disease Ontology)
- NCI:C61259
- Cross Reference ID (Disease Ontology)
- ORDO:79213
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:267452003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0026703