Long-term effects of treatment with Enzyme replacement therapy
Background information
Enzyme replacement therapy with alpha-glucosidase has been registered as a treatment for patients with Pompe disease since 2006. This made Pompe disease the first treatable hereditary muscular disorder. Treatment with enzyme replacement therapy has significantly improved the outcome for patients with Pompe disease.
Purpose of the study
In the Netherlands, the treatment of all patients with Pompe disease is coordinated the Pompe Center at Erasmus MC. This gives us the unique opportunity to accurately investigate the long-term effects of treatment with enzyme replacement therapy. It is very important to be able to see which patients benefit most from therapy, and in which patients the current therapy is insufficiently effective. This will give us more insight into which people could potentially benefit (most) from new therapies that are in development. As a result, we hope to provide patients with more personalized treatment in the future.
Researchers
This research is conducted at Erasmus MC under the direction of Dr. N. van der Beek, Dr. E. Brusse, Prof. P. van Doorn, Dr. H. van den Hout, and Prof. A. van der Ploeg
Funding
Publications
Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
A randomized study of alglucosidase alfa in late-onset Pompe's disease
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up
Lifestyle intervention in Pompe disease
Background information
We have learned that not every patient with Pompe disease responds equally well to treatment with enzyme replacement therapy and that we cannot resolve all the muscle damage and limitations in the patient's daily functioning. In addition, we see that half of the adult patients with Pompe disease struggle with obesity. It has previously been shown that it is not only feasible and safe to follow an exercise program, but it has also a positive effect on endurance, muscle strength, muscle function, fatigue and short-term pain.
In this study, patients who participated in the previously ongoing "training study" in 2011, will be approached again to determine its long-term effects. These data will be compared with a group of patients who did not participate in the training study of 2011.
Purpose of the study
This study will provide us with a basis for the follow-up study. In this study we will again design exercise programs and integrate them into lifestyle advice. The aim is to tailor an exercise program for all patients with Pompe disease - child or adult, moderately or severely ill - and, if necessary, supplement it with dietary advice and guidance from a coach.
Researchers
This study is being conducted at Erasmus MC by Dr. G. Ismailova under the supervision of Dr. M. Wagenmakers and Dr. L. van den Berg.
Funding
This study is being funded by the Prinsess Beatrix Fund for Muscle Disease.
Publications
Physical exercise training in patients with a Fontan circulation: A systematic review
Cardiovascular disease in Pompe disease
Background information
Children with the classic infantile form of Pompe disease are known to have heart problems (cardiomyopathy) in addition to severe muscle weakness.
In older children and adults with the so-called "late-onset" form of Pompe disease, the heart is usually not affected. However, there is evidence that people with Pompe disease have greater stiffness of the blood vessels (including the aorta), possibly due to accumulation of glycogen in the wall of the blood vessels. Because of this, it may be possible that patients with Pompe disease have a greater risk of cardiovascular disease.
Purpose of the study
The purpose of this study is to identify the risk factors for cardiovascular disease. The patients get an ultrasound, their blood pressure is being measured and blood samples are collected. The data will be compared to healthy controls.
Researchers
This research is conducted at Erasmus MC by Dr. H.A. van Kooten under the supervision of Dr. M. Wagenmakers and Prof. P.A. van Doorn.
Funding
Publications
Cardiovascular disease in non-classic Pompe disease: A systematic review
Home treatment with enzyme replacement therapy
Background information
The majority of patients with Pompe disease are treated with enzyme replacement therapy. During this intravenous treatment Pompe patients receive the completely or partially missing enzyme alpha glucosidase. In first instance, this is always done at Erasmus MC. If, over time, patients have no side effects, the treatment can also be given in another hospital or at home.
At this moment, about 80% of infusions in the Netherlands are given at home, a situation that is more or less unique in the world.
Purpose of the study
In this study we will collect and combine all data from previous years in order to share our expertise in the field of home infusions with our international colleagues. In addition, we would like to gain more insight in the occurence and treatment of infusion associated reactions at home. Our goal is to further improve home-based treatment.
Researchers
This study is conducted at Erasmus MC by drs. I.M. Ditters under the supervision of dr. H.H. Huidekoper, dr. J.M.P. van den Hout and prof. A.T. van der Ploeg.
Funding
Publications
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study