centronuclear myopathy
Information
- Disease name
- centronuclear myopathy
- Disease ID
- DOID:14717
- Description
- "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery." [url:http\://en.wikipedia.org/wiki/Centronuclear_myopathy, url:http\://ghr.nlm.nih.gov/condition/centronuclear-myopathy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03351270 | Completed | N/A | Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies | May 28, 2017 | September 30, 2021 |
| NCT05099107 | Enrolling by invitation | N/A | Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment | October 25, 2021 | December 31, 2025 |
| NCT06157268 | Not yet recruiting | The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. | December 2023 | November 2026 | |
| NCT00272883 | Recruiting | Molecular and Genetic Studies of Congenital Myopathies | August 2003 | January 2050 | |
| NCT04064307 | Recruiting | Myotubular and Centronuclear Myopathy Patient Registry | March 26, 2013 | December 2022 | |
| NCT05982119 | Recruiting | N/A | Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study | July 10, 2020 | March 2026 |
| NCT04033159 | Terminated | Phase 1/Phase 2 | Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies | January 9, 2020 | June 22, 2022 |
| NCT04743557 | Withdrawn | Phase 1/Phase 2 | Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies | January 2024 | November 2025 |
| NCT04977648 | Withdrawn | Natural History Study of Patients With Centronuclear Myopathies | September 2022 | March 2026 |
- Disase is a (Disease Ontology)
- DOID:422
- Cross Reference ID (Disease Ontology)
- GARD:101
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.22
- Cross Reference ID (Disease Ontology)
- MESH:D020914
- Cross Reference ID (Disease Ontology)
- NCI:C84648
- Cross Reference ID (Disease Ontology)
- ORDO:595
- Cross Reference ID (Disease Ontology)
- ORDO:596
- Cross Reference ID (Disease Ontology)
- ORDO:69186
- Cross Reference ID (Disease Ontology)
- ORDO:69189
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:193223007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175709
- Exact Synonym (Disease Ontology)
- myotubular myopathy
- OrphaNumber from OrphaNet (Orphanet)
- 595