Response of the ENPP1 ‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

2021 ◽  
Author(s):  
Carlos R Ferreira ◽  
Dillon Kavanagh ◽  
Ralf Oheim ◽  
Kristin Zimmerman ◽  
Julian Stürznickel ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Comparative Studies ◽  
Enzyme Replacement ◽  
Skeletal Phenotype ◽  
Phosphate Supplementation

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

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

Two siblings with attenuated MPS II form: Long term enzyme replacement therapy

2021 ◽  
Vol 132 (2) ◽  
pp. S107-S108
Author(s):  
Nato Vashakmadze ◽  
Leyla Namazova-Baranova ◽  
Natalia Zhurkova ◽  
Olga Gordeeva ◽  
Nina Fedorova ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Mps Ii

scholarly journals Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

2021 ◽  
pp. 088307382198915
Author(s):  
Christoph Schwering ◽  
Gertrud Kammler ◽  
Eva Wibbeler ◽  
Martin Christner ◽  
Johannes K.-M. Knobloch ◽  
...  
Keyword(s):  
Patient Safety ◽  
Adverse Events ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Practice Guidelines ◽  
Best Practice ◽  
Vision Loss ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Enzyme Replacement ◽  
Best Practice Guidelines

Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases. It is the first treatment where a recombinant lysosomal enzyme, cerliponase alfa, is administered into the lateral cerebral ventricles to reach the central nervous system, the organ affected in CLN2 disease. If untreated, CLN2 children show first symptoms such as epilepsy and language developmental delay at 2-4 years followed by rapid loss of motor and language function, vision loss, and early death. Treatment with cerliponase alfa has shown to slow the rapid neurologic decline. However, the mode of administration by 4 hour-long intracerebroventricular infusions every 14 days represents a potentially greater risk of infection compared to intravenous enzyme replacement therapies. The Hamburg NCL Specialty Clinic was the first site worldwide to perform intracerebroventricular enzyme replacement therapy in children with CLN2 disease. In order to ensure maximum patient safety, we analysed data from our center from more than 3000 intracerebroventricular enzyme replacement therapies in 48 patients over 6 years with regard to the occurrence of device-related adverse events and device infections. Since starting intracerebroventricular enzyme replacement therapy, we have also developed and continuously improved the “Hamburg Best Practice Guidelines for ICV–Enzyme Replacement Therapy (ERT) in CLN2 Disease.” Results from this study showed low rates for device-related adverse events and infections with 0.27% and 0.33%, respectively. Therefore, following our internal procedural guidelines has shown to improve standardization and patient safety of intracerebroventricular enzyme replacement therapy for CLN2 disease.

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement

scholarly journals Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sebile Kılavuz ◽  
Sibel Basaran ◽  
Deniz Kor ◽  
Fatma Derya Bulut ◽  
Sevcan Erdem ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Data ◽  
Treatment Initiation ◽  
Case Series ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Over Time ◽  
Morquio A Syndrome

Abstract Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Results At the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others. Conclusions Overall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

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