Rare Diseases

Current bibliography for experts

"Enzyme Replacement Therapy (ert)" search results...

NIEMANN-PICK

Changes in PCSK 9 and apolipoprotein B100 in Niemann-Pick disease after enzyme replacement therapy with olipudase alfa

2021-02-27

In this study, in which Niemann pick patients were included, it was aimed to assess the effect of enzyme replacement therapy (ERT) on lipid parameters and inflammatory markers.

POMPE

The impact of interrupting enzyme replacement therapy in late‑onset Pompe disease

2021-02-24

This study aimed to analyse the impact of ERT interruption on clinical outcome of LOPD patients. As a result, interruption of ERT was associated with a worsening of the objective outcome measures. Therefore, an interruption of ERT in LOPD should be kept as short as possible.

GAUCHER

GRAF score: A composite risk score for assessing adult fracture risk in imiglucerase‑treated Gaucher disease type 1 patients

2021-02-18

The aim of this study was to create a risk score assessment GRAF as a clinical tool for determining risk for future fractures beyond standard risk factors that change with time and treatment in Gaucher disease type 1 patients. The GRAF score can be used to inform clinicians about the potential fracture risk after starting imiglucerase or other alternative ERTs.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

POMPE

Quantitative whole-body magnetic resonance imaging in children with Pompe disease

2020-10-14

This article reports a measure of muscle fat infiltration in children with infantile and pediatric late-onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.

POMPE

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

2020-09-18

Enzyme replacement therapy (ERT) is the only disease-specific treatment available for Pompe disease patients. The success and limitations of ERT revealed new insights into the pathophysiology of the disease, leading the development of the next generation therapies, which have already progressed to the clinic.

FABRY

Developments in the treatment of Fabry disease

2020-09-01

This review summarizes what is known about present and prospective future therapy options for Fabry disease.

NIEMANN-PICK

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD)

2020-09-01

This is a 26-week phase 1b trial of enzyme replacement therapy (ERT) with olipudase alfa, which was followed by a long-term extension study. 5 adult patients with chronic visceral ASMD were enrolled in this trial. The findings show that hepatic clearance of sphingomyelin during olipudase alfa treatment for 42 months is associated with overall lipid profile improvements in ASMD patients.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

POMPE

Newborn Screening for Pompe Disease

2020-04-05

Newborn screening (NBS) is the most effective method for detecting and treating Pompe Disease (PD) early on. On the other hand, current NBS systems are unable to distinguish between pseudodeficiency and cases with PD or potential PD. Therefore, a combination of GAA gene analysis with NBS is needed for definitive PD diagnoses.

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

2020-02-01

Early and accurate diagnosis in the asymptomatic stage is critical for mucopolysaccharidosis (MPS) patients. This study updates details on the clinical manifestations, diagnosis, and treatment of the various types of MPS with the hopes of generating further interest in the disease.

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

2019-08-01

This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

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