Natural history of alpha mannosidosis a ...
Type de document :
Article dans une revue scientifique
DOI :
PMID :
URL permanente :
Titre :
Natural history of alpha mannosidosis a longitudinal study
Auteur(s) :
Beck, Michael [Auteur]
University Medical Center [Mainz]
Olsen, Klaus J. [Auteur]
Wraith, James E. [Auteur]
University of Manchester [Manchester]
Zeman, Jiri [Auteur]
Michalski, Jean-Claude [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Saftig, Paul [Auteur]
Fogh, Jens [Auteur]
Malm, Dag [Auteur]
University of Tromsø [UiT]
University Medical Center [Mainz]
Olsen, Klaus J. [Auteur]
Wraith, James E. [Auteur]
University of Manchester [Manchester]
Zeman, Jiri [Auteur]
Michalski, Jean-Claude [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Saftig, Paul [Auteur]
Fogh, Jens [Auteur]
Malm, Dag [Auteur]
University of Tromsø [UiT]
Titre de la revue :
Orphanet journal of rare diseases
Nom court de la revue :
Orphanet J Rare Dis
Numéro :
8
Pagination :
88
Date de publication :
2013-06-20
ISSN :
1750-1172
Mot(s)-clé(s) en anglais :
alpha-Mannosidosis
Humans
Child, Preschool
Sulfatases
Male
Infant
Physical Endurance
Disease Progression
Young Adult
Walking
Adolescent
Female
Adult
Respiratory Function Tests
Child
Longitudinal Studies
Humans
Child, Preschool
Sulfatases
Male
Infant
Physical Endurance
Disease Progression
Young Adult
Walking
Adolescent
Female
Adult
Respiratory Function Tests
Child
Longitudinal Studies
Discipline(s) HAL :
Chimie/Chimie théorique et/ou physique
Résumé en anglais : [en]
BACKGROUND: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities ...
Lire la suite >BACKGROUND: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and disease progression of patients affected by alpha-Mannosidosis, a survey study was conducted. 43 patients from 4 European countries participated in this longitudinal study. Age range of the participants was 3 to 42 years. For each patient a medical history, complete physical and neurological examination, joint range of motion and assessment of physical endurance and of lung function were completed. In addition, serum and urinary oligosaccharide levels were analysed. METHODS: In this multicenter longitudinal study clinical data of 43 alpha-Mannosidosis patients were collected. In addition to objective clinical measurements biochemical assays were performed. RESULTS: Data analysis revealed a wide spectrum of clinical presentation regarding the severity and disease progression. Most clinical abnormalities were observed in the musculoskeletal and neurological system. All patients showed mental retardation and hearing loss from early childhood. An impairment in physical endurance was revealed by the 6-minute walk and 3-minute stair stair climb tests. There was only slight progression of a few clinical findings: Psychiatric troubles in both groups essentially, and respiratory dysfunction under 18 years. The serum and urinary oligosaccharide levels were increased in all affected individuals and correlated well with the 6-minute walk and 3-minute stair climb test results. CONCLUSIONS: This study confirms that alpha-Mannosidosis is a very heterogeneous disorder regarding both, disease severity and progression. As it has been shown that Mannosidosis patients are able to perform lung function tests and the 6MWT and stair-climb test, these clinical parameters apparently can be used as clinical endpoints for clinical trials. Oligosaccharide levels appeared correlated with functional testing and may serve as biomarkers of disease severity, progression and response to treatment. TRIAL REGISTRATION: ClinicalTrials.gov Identifier = NCT00498420 and EuropeanCommission FP VI contract LHSM-CT-2006-018692.Lire moins >
Lire la suite >BACKGROUND: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and disease progression of patients affected by alpha-Mannosidosis, a survey study was conducted. 43 patients from 4 European countries participated in this longitudinal study. Age range of the participants was 3 to 42 years. For each patient a medical history, complete physical and neurological examination, joint range of motion and assessment of physical endurance and of lung function were completed. In addition, serum and urinary oligosaccharide levels were analysed. METHODS: In this multicenter longitudinal study clinical data of 43 alpha-Mannosidosis patients were collected. In addition to objective clinical measurements biochemical assays were performed. RESULTS: Data analysis revealed a wide spectrum of clinical presentation regarding the severity and disease progression. Most clinical abnormalities were observed in the musculoskeletal and neurological system. All patients showed mental retardation and hearing loss from early childhood. An impairment in physical endurance was revealed by the 6-minute walk and 3-minute stair stair climb tests. There was only slight progression of a few clinical findings: Psychiatric troubles in both groups essentially, and respiratory dysfunction under 18 years. The serum and urinary oligosaccharide levels were increased in all affected individuals and correlated well with the 6-minute walk and 3-minute stair climb test results. CONCLUSIONS: This study confirms that alpha-Mannosidosis is a very heterogeneous disorder regarding both, disease severity and progression. As it has been shown that Mannosidosis patients are able to perform lung function tests and the 6MWT and stair-climb test, these clinical parameters apparently can be used as clinical endpoints for clinical trials. Oligosaccharide levels appeared correlated with functional testing and may serve as biomarkers of disease severity, progression and response to treatment. TRIAL REGISTRATION: ClinicalTrials.gov Identifier = NCT00498420 and EuropeanCommission FP VI contract LHSM-CT-2006-018692.Lire moins >
Langue :
Anglais
Audience :
Non spécifiée
Établissement(s) :
CNRS
Université de Lille
Université de Lille
Équipe(s) de recherche :
Mécanismes moléculaires de la N-glycosylation et pathologies associées
Date de dépôt :
2020-02-12T15:12:09Z
2021-03-04T14:58:57Z
2021-03-04T14:58:57Z
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