Pompe Survey

 

In 2002, the International Pompe Association (IPA, a worldwide federation of Pompe disease patient groups) and Erasmus MC jointly started the 'IPA/ Erasmus MC Pompe Survey' project, an ongoing international study in which data are collected from children and adults with Pompe disease by means of self-report questionnaires. 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. A second objective is to test a number of measurement scales for their usefulness in the assessment of disease severity and changes over time.

For this purpose, a questionnaire was developed covering topics such as diagnosis, disease history, development in childhood, mobility, respiratory problems, specific symptoms, daily activities and use of care ('Pompe questionnaire'). Further, already existing questionnaires were added for the measurement of fatigue (fatigue severity scale), self care and mobility, the level of handicap (Rotterdam 9-items handicap scale), and quality of life (SF-36 health survey).

 

At this moment more than 300 Pompe patients have participated in the survey through the IPA-affiliated patient organizations in the US, the UK, the Netherlands, Germany, France, Canada and Australia. Some others have participated directly through Erasmus MC. In France, the study is carried out in co-operation with the Institut de Myologie in Paris.

It is still possible to participate in the Survey. The questionnaire is available in Dutch, English, French, and German. Participation is open to all patients with a confirmed diagnosis of late-onset Pompe disease. We are currently working on a new version of this survey, which will be accessible through the internet and will include more different languages (including Spanish and Italian).

For more information please contact us.

Further, it was investigated whether the Rotterdam Handicap Scale (RHS) could be a good instrument to assess the consequences of the disease on daily life. The RHS assesses the level of participation in life situations, a concept formerly referred to as 'handicap', by means of 9 questions on the topics mobility indoors, mobility outdoors, kitchen tasks, domestic tasks indoors, domestic tasks outdoors, leisure activities indoors, leisure activities outdoors, travelling and work or study. The results from the international patient group indicate that the RHS seems suitable for use in Pompe disease. The mean RHS score in our international group of patients was clearly reduced, and in particular the ability of the patients to fulfil their work or study is affected. The mean RHS score in our international group of patients was clearly reduced, and in particular the ability of the patients to fulfil their work or study is affected [2].

An overview of the results of the baseline survey and the first two years of follow-up in the Dutch subgroup is given below.

First, results from the Pompe questionnaire in 54 Dutch patients were analysed. An important message from this study was that almost 60% of the adult patients indicated the presence of mild muscular symptoms already during childhood.  The study also clearly shows that Pompe disease is a genuine spectrum. First symptoms may occur at any age and the sequence of respiratory and skeletal muscle involvement varied substantially between the patients. Periodic measurement of respiratory function is therefore important, no matter how old a patient is and whether skeletal muscle problems are present or not. Other observations from this study were that pain and fatigue are more frequent symptoms in Pompe disease than previously thought [3].

The Dutch participants in the baseline survey were asked to complete a short follow-up questionnaire after one and after two years. Already in this relatively small group of patients, changes were recorded on a group level in mobility, functional activities and respiration and in the scores on the Rotterdam Handicap Scale. These results illustrate the progressiveness of late-onset Pompe disease and indicate the need for close clinical follow-up of both children and adults with this disorder [4]. It also illustrates the usefulness of this type of information, which has led to the current expansion of the follow-up study to all patients who previously participated in the baseline survey. 

Data on quality of life were collected among 210 adult patients from different countries. Quality of life was assessed with the 'Short Form-36 health survey' (SF-36). This questionnaire measures quality of life on 8 health domains (physical functioning, physical role-functioning, bodily pain, general health, vitality, social functioning, emotional role-functioning, and mental health). In general, patients with Pompe disease had a low score on the physical health domains, but did not differ from the general population on the mental health domains. There were no clear differences between patients from different countries. The usefulness of the SF-36 health survey for the assessment of changes over time remains questionable [5]. 

In the large, international group of 255 patients it was possible to make a division into groups based on age and duration of disease, and to link these two variables to the severity of disease. It was concluded that disease severity depended on disease duration and not on age. Mildly and severely affected patients were present in every age group, and an early manifestation of Pompe disease generally implied earlier wheelchair or ventilator dependency. Specific attention was drawn to a subset of patients under 15 years with a more rapidly progressive course. These patients all used respiratory support, were all wheelchair dependent, required nutritional support, and experienced first complaints before two years of age [6].

So far, the Pompe Survey has provided us with a large amount of information, and we still regularly receive newly completed questionnaires. We'll keep you informed, and we would like to thank all the patients who participated in this study so far for their co-operation!

Publications from the IPA/ Erasmus MC Pompe survey: