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Research

At this moment the Pompe research team at Erasmus MC focuses on the following projects:

Effects of enzyme replacement therapy (ERT)
Recently two clinical trials studying enzyme replacement therapy with Myzoyme were performed: the Late-Onset Treatment Study (LOTS) and the Mini-LOTS. Both studies were sponsored by Genzyme. The LOTS was a large randomized, double-blind, placebo-controlled study in patients with late-onset Pompe disease. In this trial a total number of 90 patients from 7 centers worldwide participated. At Erasmus MC 22 patients were included; 20 adults and 2 children. The overall objective was to evaluate the safety, efficacy, and pharmacokinetics of Myozyme treatment as compared to placebo. The main outcome measures were the safety and pharmacokinetic profile of Myozyme and the effect of Myozyme treatment on muscle and pulmonary function.

The Mini-LOTS was a single-centre, open-label study in children aged 5-18 years of age, in which 5 patients participated, all treated at Erasmus MC. The overall objective was to evaluate the safety, pharmacokinetics and efficacy of Myozyme treatment. The main outcome measures were the safety and pharmacokinetic profile of Myozyme and the effect of Myozyme treatment on muscle and pulmonary function. The results of both trials are currently being analyzed and prepared for publication.

At this moment a total number of approximately 120 patients with Pompe disease is known in the Netherlands and at Erasmus MC. Most of these patients are treated with Myozyme once every two weeks. Both the treated and untreated patients take part in a standardized follow-up protocol  including  a general and neurological examination, muscle strength and function tests, assessment scales (disability, handicap, quality of life), laboratory parameters (blood and urine samples, skin biopsy), pulmonary function tests, a cardiac evaluation and an audiogram. Through this data collection we hope to  evaluate the long-term effects of enzyme replacement therapy and to improve the care for patients with Pompe disease. For more information on this project please contact us.


IPA/ Erasmus MC Pompe Survey
The IPA/ Erasmus MC Pompe Survey is an ongoing international study in which data are collected from children and adults with Pompe disease by means of self-report questionnaires. It is a joint project of Erasmus MC and the International Pompe Association (IPA). The goal of this survey is to gather as much information as possible on the natural course of the disease, the severity of the disease in the patient population, and the impact on the daily life of the patients. At this moment more than 300 Pompe patients worldwide have participated in this survey. 

Basic research
The long-term aim of our research at Erasmus MC is to understand the genetic, molecular, enzymatic and cellular aspects of Pompe disease in order to improve the diagnostic procedures and to develop methods for therapeutic intervention. Finding the cause of clinical diversity is one of the long-term projects. For this project we typically collect clinical information and investigate materials, such as muscle biopsies, cultured skin fibroblasts, blood and DNA samples from the patients. The Pompe disease mutation database is an example of how information is collected and distributed. It lists all reported variations in the acid α-glucosidase gene and describes their effect. The interpretation of data is based on state of the art knowledge about the processes involved in the synthesis and intra-cellular transport of acid α-glucosidase.

Improved understanding of the genotype-phenotype correlation is expected to facilitate the diagnosis, prognosis and timely intervention in Pompe disease. Mouse models of Pompe disease were developed and are used to study the pathogenesis and pathophysiology of Pompe disease, to obtain insight in the disease process at the cellular level. The mice have also proven their value for the development of enzyme therapy. They are being used to evaluate and optimize the effects of enzyme therapy and to search for alternative treatment strategies. Research continues along these lines. 

 

 


Last updated 8 september 2008© Pompe Center, 2008.
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