alpha-mannosidosis

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Information
Disease name
alpha-mannosidosis
Disease ID
DOID:3413
Description
"A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." [url:http\://en.wikipedia.org/wiki/Alpha-mannosidosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04959240 Available Expanded Access to Velmanase Alfa
NCT01681953 Completed Phase 3 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis August 2012 May 2014
NCT01908712 Completed Phase 3 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients August 2013 September 30, 2022
NCT01908725 Completed Phase 3 Lamazym Aftercare Study June 2013 September 30, 2022
NCT02141503 Completed Clinical Biomarkers in Alpha-mannosidosis July 24, 2014 November 29, 2019
NCT01681940 Completed Phase 2 Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis January 2012 September 2013
NCT02478840 Completed Phase 3 Evaluation of Long-term Efficacy of Treatment With Lamazym February 2015 June 2015
NCT02998879 Completed Phase 2 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis December 2016 July 2020
NCT06184503 Not yet recruiting Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3 May 2024 September 2029
NCT02254863 Recruiting Phase 1 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells September 2014 October 2024
NCT02171104 Recruiting Phase 2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis July 10, 2014 July 14, 2028
NCT03333200 Recruiting Longitudinal Study of Neurodegenerative Disorders January 11, 2012 January 2035
NCT01372228 Terminated Phase 1/Phase 2 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders April 2011 April 2016
NCT04031066 Withdrawn Phase 3 Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis January 11, 2021 December 29, 2021
Disase is a (Disease Ontology)
DOID:3211
Cross Reference ID (Disease Ontology)
GARD:6968
Cross Reference ID (Disease Ontology)
MESH:D008363
Cross Reference ID (Disease Ontology)
MIM:248500
Cross Reference ID (Disease Ontology)
NCI:C84548
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:65524005
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0024748
Exact Synonym (Disease Ontology)
Alpha-D-mannosidosis
Exact Synonym (Disease Ontology)
alpha-mannosidase deficiency
Exact Synonym (Disease Ontology)
deficiency of alpha-mannosidase
OrphaNumber from OrphaNet (Orphanet)
61
MeSH unique ID (MeSH (Medical Subject Headings))
D008363