mucopolysaccharidosis III
Information
- Disease name
- mucopolysaccharidosis III
- Disease ID
- DOID:12801
- Description
- "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain." [url:http\://en.wikipedia.org/wiki/Sanfilippo_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02716246 | Active, not recruiting | Phase 2/Phase 3 | Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | March 2016 | June 2024 |
| NCT04018755 | Completed | Phase 2/Phase 3 | Open-label Study of Anakinra in MPS III | January 30, 2020 | March 8, 2023 |
| NCT06333041 | Not yet recruiting | Phase 2/Phase 3 | Study of Cannabidiol in Sanfilippo Syndrome | May 2024 | May 2027 |
| NCT06036693 | Recruiting | MPS (RaDiCo Cohort) (RaDiCo-MPS) | December 20, 2017 | December 20, 2024 | |
| NCT04088734 | Terminated | Phase 1/Phase 2 | Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease | September 18, 2019 | March 10, 2022 |
- Disase is a (Disease Ontology)
- DOID:12798
- Cross Reference ID (Disease Ontology)
- MESH:D009084
- Cross Reference ID (Disease Ontology)
- MIM:252940
- Cross Reference ID (Disease Ontology)
- NCI:C61262
- Cross Reference ID (Disease Ontology)
- ORDO:581
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190936000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0026706
- Exact Synonym (Disease Ontology)
- heparan sulfate sulfatase deficiency
- Exact Synonym (Disease Ontology)
- Mucopolysaccharidosis, MPS-III
- Exact Synonym (Disease Ontology)
- N-sulphoglucosamine sulphohydrolase deficiency
- Exact Synonym (Disease Ontology)
- Sanfilippo's syndrome
- Disase Synonym (Disease Ontology)
- naglu deficiency
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009084