Who can participate in the Pompe Survey?

All individuals aged 16 and above with a confirmed diagnosis of late-onset Pompe disease may participate in the Pompe Survey. Participants are actively recruited by the representatives of the IPA in Australia, Canada, France, Germany, the Netherlands, New Zealand, United Kingdom and the United States. However, you can also participate if you reside in another country than in which we are actively recruiting at the moment. Information on how to participate is given below in the section “How do I participate”.

The questionnaire is available in Dutch, English, French and German. Spanish and Italian translations will become available soon. Also if the questionnaire is not available in your native language, you are welcome to participate through one of the available languages.

It is currently not possible to participate for children below 16 years of age, but we are aiming to develop questionnaires suitable for children and their parents/caregivers in the future.

How do I particpate?

If you are considering to participate in the Pompe Survey, you can download further information below. The invitation letter explains how you can participate. The patient information leaflet gives further information about the Survey. Once you have read the information leaflet and have decided to participate, you can sign the consent form and return it to us with the e-mail form (the invitation letter explains how). 

These documents are available in the same languages as the questionnaire (Dutch, English, French and German; with Spanish and Italian to be developed next). If you have any questions about the patient information leaflet, consent form or questionnaire in general, please don’t hesitate to contact your national representative (for contact details please see ‘Our team’).

Pompe Survey invitation letter
Pompe Survey patient information leaflet and informed consent form
Pompe Survey e-mail form

Is joining my choice?

Participation in the Pompe Survey is voluntary and you have the right to discontinue participation at any time without a penalty or loss of benefits to which you are otherwise entitled. The alternative is not to participate. Whether you participate or not does not influence your treatment.

What questionnaires do I need to complete?

Baseline questionnaire: the first time you participate you will be asked to provide some identifying information (e.g. sex and age) that will be stored separately to ensure anonymity. We do need this information for several reasons, e.g. sending you the questionnaire and making sure we don’t include a patient twice. You will also fill in a  questionnaire about your medical history and diagnosis, your current physical problems and complaints, use of treatment and care, and five standardized questionnaires about daily activities and quality of life (see below).

Annual follow-up questionnaire: after the initial questionnaire, you will receive a follow up questionnaire each year with questions about your current physical problems and complaints, use of treatment and care, and the five standardized questionnaires (see below).

Five standardized questionnaires: the standardized questionnaires measure daily life activities (Rash-built Pompe-specific Activity scale, R-PAct), quality of life (SF-36 health survey and EQ-5D questionnaire), tiredness (Fatigue Severity Scale, FSS) and participation in daily life (Rotterdam 9-items Handicap Scale, RHS).

It is possible that you will be approached for an extra, one-time questionnaire to explore a new or less well studied subject that may be of interest to patients with Pompe disease. This will only happen occasionally. Examples of such subjects are the effects of COVID-19 (corona) on the lives of patients with Pompe disease, and pregnancy and Pompe disease. Filling in a one-time questionnaire is also voluntary.

What is being done with my data? 

The results of the questionnaires will be studied for research purposes and may be presented at scientific or professional meetings and/or published in scientific journals. Your individual privacy will be maintained in all verbal and written output resulting from the study.

How much time will it take to participate?

The baseline questionnaire will take approximately 45 minutes of your time. The annual follow-up questionnaire will take approximately 20-25 minutes of your time. For one-time extra questionnaires the time will be variable, an estimation will always be given with the questionnaire.

Will I receive any compensation?

You will not receive any compensation for your participation.

What are the potential benefits participation?

There is no direct individual benefit to the patient. However, the results from this survey benefit the population of patients with Pompe disease as a whole. Insights obtained from this study into the effects of Pompe disease on patients’ lives allow patients to be better informed about what they can expect from the disease. Information on the effects of treatment are needed to develop and evaluate new treatments and for decisions on the reimbursement of treatment. We are hoping that we are able to give personal feedback on your completed questionnaires in the future.  

What are the potential risks of participation?

The risks associated with this study are none.

Who should I contact if I have any questions?

If you have any questions, concerns or complaints about this research, its procedures, risks and benefits, please contact your national representative (for contact details please see ‘Our team’).

Our team

The Pompe Survey is a collaboration between the Pompe Center of the Erasmus MC (this is part of the Center for Lysosomal and Metabolic Diseases of the Erasmus MC) and the International Pompe Association (IPA).

Participating staff/organisations:

• Erasmus MC
  
  • Maudy Theunissen, MSc, physician researcher / PhD candidate
  • Nadine van der Beek, PhD, neurologist
  • Michelle Kruijshaar, PhD, epidemiologist
  • Ans van der Ploeg, professor, pediatrician and head of the Center for Lysosomal and Metabolic Diseases
• International Pompe Associaton (IPA)

If you want to participate or have any questions, concerns or complaints about this research, please contact your national representative: