glycogen storage disease
Information
- Disease name
- glycogen storage disease
- Disease ID
- DOID:2747
- Description
- "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types." [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease, url:http\://www.slideshare.net/anjupaed/glcogen-storage-disorders]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00001342 | Completed | Study of Glycogen Storage Disease and Associated Disorders | November 1992 | April 2001 | |
| NCT00566878 | Completed | Pompe Lactation Sub-Registry | March 31, 2012 | February 9, 2024 | |
| NCT02057731 | Completed | Study of Glycogen Storage Disease Expression in Carriers | February 2014 | July 2016 | |
| NCT02318966 | Completed | N/A | Glycosade v UCCS in the Dietary Management of Hepatic GSD | February 22, 2016 | August 14, 2020 |
| NCT03255213 | Completed | N/A | Lingual Muscle Training in Late-Onset Pompe Disease (LOPD) | March 21, 2018 | April 23, 2020 |
| NCT04292938 | Completed | N/A | McArdle Disease Treatment by Ketogenic Diet | March 25, 2019 | June 30, 2021 |
| NCT05095727 | Recruiting | Phase 1/Phase 2 | A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a) | June 1, 2022 | December 26, 2028 |
| NCT05200702 | Recruiting | N/A | Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders | January 5, 2022 | July 2024 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT05199246 | Recruiting | N/A | Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders | December 1, 2021 | July 2024 |
| NCT04929002 | Recruiting | Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases | December 10, 2021 | May 2026 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT04399694 | Suspended | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders | March 3, 2020 | April 2026 | |
| NCT02338817 | Terminated | Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population | December 2015 | July 2016 | |
| NCT02385162 | Withdrawn | Biomarker for Glycogen Storage Diseases (BioGlycogen) | August 20, 2018 | February 28, 2021 |
- Disase is a (Disease Ontology)
- DOID:0050728
- Cross Reference ID (Disease Ontology)
- ICD10CM:E74.0
- Cross Reference ID (Disease Ontology)
- ICD9CM:271.0
- Cross Reference ID (Disease Ontology)
- MESH:D006008
- Cross Reference ID (Disease Ontology)
- NCI:C61272
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:267498002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0017919
- Exact Synonym (Disease Ontology)
- glycogenosis
- Disase Synonym (Disease Ontology)
- glycogenoses
- ICD10 preferred id (Insert disease from ICD10)
- D0003878
- ICD10 class code (Insert disease from ICD10)
- E74.0
- MeSH unique ID (MeSH (Medical Subject Headings))
- D006008