Usher syndrome type 2
Information
- Disease name
- Usher syndrome type 2
- Disease ID
- DOID:0110827
- Description
- "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa." [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1341/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824, url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05158296 | Active, not recruiting | Phase 2/Phase 3 | Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius) | December 8, 2021 | December 2024 |
| NCT01530659 | Completed | Phase 2 | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa | January 2012 | July 1, 2019 |
| NCT03780257 | Completed | Phase 1/Phase 2 | Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene | March 6, 2019 | October 14, 2021 |
| NCT05085964 | Terminated | Phase 2 | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa | September 16, 2021 | October 18, 2022 |
| NCT05176717 | Terminated | Phase 2/Phase 3 | Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste) | December 15, 2021 | August 2, 2022 |
- Disase is a (Disease Ontology)
- DOID:0050439
- Cross Reference ID (Disease Ontology)
- MESH:D052245
- Cross Reference ID (Disease Ontology)
- NCI:C126328
- Cross Reference ID (Disease Ontology)
- ORDO:231178
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2021_09_01:232058008
- Exact Synonym (Disease Ontology)
- USH2
- MedGen concept unique identifier (MedGen Concept name)
- C0339534
- MedGen unique identifier (MedGen Concept name)
- 83288