Life-threatening hypophosphatasia (HPP): Results of up to two years bone-targeted Enzyme Replacement Therapy (ERT) in infants and young children

Bone ◽  
2011 ◽  
Vol 48 ◽  
pp. S82 ◽  
Author(s):  
N. Bishop ◽  
C. Greenberg ◽  
S. Craig ◽  
M. McGinn ◽  
J. Simmons ◽  
...  
Keyword(s):  
Young Children ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Life Threatening ◽  
Infants And Young Children

scholarly journals Modeling the effect of enzyme replacement therapy on life-threatening complications in patients with Fabry disease

2019 ◽  
Vol 11 (4) ◽  
pp. 38-46
Author(s):  
V. I. Ignatyeva ◽  
S. V. Moiseev ◽  
N. M. Bulanov ◽  
E. A. Karovajkina ◽  
A S. Moiseev
Keyword(s):  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Early Start ◽  
Enzyme Replacement ◽  
Congenital Deficiency ◽  
Life Threatening ◽  
Late Start ◽  
Available Information ◽  
Lysosome Storage Disease

Fabry disease (FD) is a severe lysosome storage disease caused by congenital deficiency of the enzyme α-galactosidase A and characterized by the risk of renal failure combined with cardiovascular and CNS complications. According to the currently available information, the early start of enzyme replacement therapy (ERT) leads to a significant improvement in patient’s condition.The aim of the studyis to assess whether the timely ERT prevents severe FD complications and to calculate the number of prevented cases as depending on the time of ERT start.Materials and methods. The proposed model is based on the published results on patients with FD, receiving agalsidase alpha as ERT (no data for agalsidase beta was found). The expected number of cases with life-threatening complications was calculated for different starting timepoints and durations of the ERT.Results. In patients with FD, continuous ERT during five years reduces the number of serious cardiovascular and renal complications by 25%. An early start of ERT makes it possible to additionally (as compared with a late start) prevent the complications in more than 20% of cases.Conclusion. The early initiation of RPT in patients with FD can significantly reduce the occurrence of severe lifethreatening complications, increase the patients’ survival and improve their quality of life. 

Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease

1993 ◽  
Vol 85 (4) ◽  
pp. 783-786 ◽  
Author(s):  
A. Zimran ◽  
I. Hadas-Halpern ◽  
S. Zevin ◽  
E. Levy-Lahad ◽  
A. Abrahamov
Keyword(s):  
Young Children ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
High Frequency ◽  
Gaucher Disease ◽  
Low Dose ◽  
Enzyme Replacement ◽  
Very Young Children

scholarly journals Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

2012 ◽  
Vol 366 (10) ◽  
pp. 904-913 ◽  
Author(s):  
Michael P. Whyte ◽  
Cheryl R. Greenberg ◽  
Nada J. Salman ◽  
Michael B. Bober ◽  
William H. McAlister ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Life Threatening

scholarly journals The lived experience of parents with children diagnosed with mucopolysaccharidosis waiting for enzyme replacement therapy

2021 ◽  
Author(s):  
Maria Maione
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lived Experience ◽  
Orphan Drug ◽  
Genetic Diseases ◽  
Structured Interview ◽  
Enzyme Replacement ◽  
Interview Guide ◽  
Key Informant ◽  
Life Threatening

Mucopolysaccharidosis (MPS) is a rare and life threatening disease, and is one form of a family of metabolic genetic diseases. MPS is classified as an orphan diease. There is no cure for MPS; however, supportive treatment through Enzyme Replacement Therapy (ERT) is available but is an orphan drug. Canada is the only member of the Organization for Economic Co-operation and Development (OECD) that does not have an Orphan Drug Policy. The purpose of this phenomenological descriptive study was to explore the lived experience of parents with children diagnosed with MPS and who have received ERT but were now waiting for ERT funding by the provinces/territories. Nine key informant interviews, using a semi-structured interview guide, were conducted and the following four key themes emerged: A New Journey; A New Reality; A New Optimism and A Road to Nowhere. This description is unique to parents in Canada as it describes their experiences of having to live out the policies set by federal and provincial/territorial governments.

scholarly journals The lived experience of parents with children diagnosed with mucopolysaccharidosis waiting for enzyme replacement therapy

2021 ◽  
Author(s):  
Maria Maione
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lived Experience ◽  
Orphan Drug ◽  
Genetic Diseases ◽  
Structured Interview ◽  
Enzyme Replacement ◽  
Interview Guide ◽  
Key Informant ◽  
Life Threatening

Mucopolysaccharidosis (MPS) is a rare and life threatening disease, and is one form of a family of metabolic genetic diseases. MPS is classified as an orphan diease. There is no cure for MPS; however, supportive treatment through Enzyme Replacement Therapy (ERT) is available but is an orphan drug. Canada is the only member of the Organization for Economic Co-operation and Development (OECD) that does not have an Orphan Drug Policy. The purpose of this phenomenological descriptive study was to explore the lived experience of parents with children diagnosed with MPS and who have received ERT but were now waiting for ERT funding by the provinces/territories. Nine key informant interviews, using a semi-structured interview guide, were conducted and the following four key themes emerged: A New Journey; A New Reality; A New Optimism and A Road to Nowhere. This description is unique to parents in Canada as it describes their experiences of having to live out the policies set by federal and provincial/territorial governments.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement
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