limb-girdle muscular dystrophy
Information
- Disease name
- limb-girdle muscular dystrophy
- Disease ID
- DOID:11724
- Description
- "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles." [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00104078 | Completed | Phase 1/Phase 2 | Study Evaluating MYO-029 in Adult Muscular Dystrophy | February 2005 | January 2007 |
| NCT00457912 | Completed | Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy | June 2005 | January 1, 2018 | |
| NCT00873782 | Completed | Phase 1 | Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy | March 2009 | February 2014 |
| NCT02635321 | Completed | MRI and Muscle Involvement in Patients With Mutations in GMPPB | November 2015 | April 2016 | |
| NCT02759302 | Completed | MRI on Persons With Mutations in POMT2 Gene (LGMD2N) | April 2016 | April 2017 | |
| NCT04054375 | Completed | Phase 2 | Weekly Steroids in Muscular Dystrophy | July 1, 2019 | March 1, 2022 |
| NCT06399770 | Not yet recruiting | The Role of Muscle Ultrasound in Assessment of Sample of Patients With Limb-girdle Muscular Dystrophy | June 1, 2024 | July 1, 2026 | |
| NCT06246513 | Recruiting | Phase 3 | A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 (EMERGENE) | January 15, 2024 | November 30, 2029 |
| NCT00390104 | Recruiting | Molecular Analysis of Patients With Neuromuscular Disease | January 2002 | December 31, 2027 | |
| NCT01403402 | Recruiting | Congenital Muscle Disease Study of Patient and Family Reported Medical Information | September 2009 | September 2029 | |
| NCT04475926 | Recruiting | A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice | April 22, 2021 | March 31, 2028 | |
| NCT03783923 | Terminated | Phase 3 | A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) | October 31, 2019 | January 1, 2021 |
- Disase is a (Disease Ontology)
- DOID:9884
- Cross Reference ID (Disease Ontology)
- GARD:6907
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.03
- Cross Reference ID (Disease Ontology)
- MESH:D049288
- Cross Reference ID (Disease Ontology)
- NCI:C84828
- Cross Reference ID (Disease Ontology)
- ORDO:263
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:56096001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0686353
- Exact Synonym (Disease Ontology)
- Erb's muscular dystrophy
- Exact Synonym (Disease Ontology)
- Leyden-Mbius muscular dystrophy
- Exact Synonym (Disease Ontology)
- limb girdle muscular dystrophy
- HPO alt_id (Human Phenotype Ontology)
- HP:0009066
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0006785
- OrphaNumber from OrphaNet (Orphanet)
- 263