What we do
About our project
What is the IPA/Erasmus MC Pompe Survey?
The IPA/Erasmus MC Pompe Survey (’the Pompe Survey’) collects information on the effects of Pompe disease on patients’ lives of patients, and how these may change with treatment. Patients themselves provide this information through an annual questionnaire. Launched in 2002, the Pompe Survey is a collaboration of the International Pompe Association (IPA) and Erasmus MC.
Why do we need the Pompe Survey?
The information collected in the Pompe Survey helps us to better understand what happens to patients over time. How does the disease progress and how does treatment affect this? Each year, patients report on physical problems they may experience, their quality of life, social participation, and the treatment they receive. This information is key to studying the effects of treatment on patients’ lives and to assess the effectiveness of new treatments on the market. Lastly, the information helps to inform physicians about the (changing) needs of patients.
Who can participate in the survey?
All individuals aged 18 and above with a confirmed diagnosis of Pompe disease may participate in the Pompe Survey. Participants are actively recruited in Australia, Canada, England, France, Germany, the Netherlands, New Zealand, and the USA. Nevertheless, you can also participate if you reside in another country. Information on how to participate is given below (See the section 'Our team').
The questionnaire is available in Dutch, English, French and German. Spanish and Italian translations will become available soon. If the questionnaire is not available in your native language, you are welcome to participate through one of the available languages, if possible.
Our research focus
What kind of information is collected?
- Baseline and background information
The first time you participate you will be asked to provide some identifying information that will be kept anonymous. You will fill in an extensive questionnaire about your medical history and diagnosis, your current physical condition, use of treatment and care, and four standardized questionnaires about the effect of the disease on daily activities and quality of life (see below).
- Annually collected information
After the initial questionnaire, you will receive a followup questionnaire each year with questions about your current physical condition, use of treatment and care, and the four standardized questionnaires.
- Four standardized questionnaires
The standardized questionnaires measure fatigue (Fatigue Severity Scale, FSS), social participation (Rotterdam 9-items Handicap Scale, RHS), quality of life (SF-36 health survey), and daily life activities (Rash-built Pompe-specific Activity scale, RPAct).
How do I participate?
Please contact one of the national representatives listed in the section below 'Our team' to receive the patient information leaflet and the consent form. Once you have read the information leaflet and have decide to participate, you will be asked to sign and return the consent form. These documents are available in the same languages as the questionnaire (Dutch, English, French and German; with Spanish and Italian to be developed next).
Collaboration outside of Erasmus MC
Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.
Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos & Nadine A. M. E. van der Beek. (2020). Orphanet Journal of Rare Diseases volume 15, Article number: 232 (2020).
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.
Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek & Ans T. van der Ploeg. (2018). Orphanet Journal of Rare Diseases volume 13, Article number: 82 (2018).
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.
Deniz Güngör,corresponding author Michelle E. Kruijshaar, Iris Plug, Dimitris Rizopoulos, Tim A. Kanters, Stephan C. A. Wens, Arnold J. J. Reuser, Pieter A. van Doorn, and Ans T. van der Ploeg. (2016). J Inherit Metab Dis. 2016; 39: 253-260.
Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease.
J C van der Meijden, D Güngör, M E Kruijshaar, A D J Muir, H A Broekgaarden, A T van der Ploeg. (2015). J Neuromuscul Dis. 2015;2(s1):S35.
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser & Ans T van der Ploeg. (2013). Orphanet Journal of Rare Diseases volume 8, Article number: 49 (2013).
Enzyme replacement therapy and fatigue in adults with Pompe disease.
Deniz Güngör, Juna M de Vries, Esther Brusse, Michelle E Kruijshaar, Wim C J Hop, Magda Murawska, Linda E M van den Berg, Arnold J J Reuser, Pieter A van Doorn, Marloes L C Hagemans, Iris Plug, Ans T van der Ploeg. (2013). Observational Study Mol Genet Metab. 2013 Jun;109(2):174-8.
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
Deniz Güngör,corresponding author, Juna M de Vries, Wim CJ Hop,4 Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg, and Marloes LC Hagemans. (2011). Orphanet J Rare Dis. 2011; 6: 34.
Fatigue: an important feature of late-onset Pompe disease.
M. L. C. Hagemans,S. P. M. van Schie,1 A. C. J. W. Janssens, P. A. van Doorn, A. J. J. Reuser,4 and A. T. van der Ploegcorresponding. (2007). J Neurol. 2007 Jul; 254(7): 941-945.
Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale.
M L C Hagemans, P Laforêt, W J C Hop, I S J Merkies, P A Van Doorn, A J J Reuser, A T Van der Ploeg. (2007). Neuromuscul Disord. 2007 Jul;17(7):537-43.
Course of disability and respiratory function in untreated late-onset Pompe disease.
M L C Hagemans, W J C Hop, P A Van Doorn, A J J Reuser, A T Van der Ploeg. (2006). Neurology. 2006 Feb 28;66(4):581-3.
Disease severity in children and adults with Pompe disease related to age and disease duration.
M L C Hagemans, L P F Winkel, W C J Hop, A J J Reuser, P A Van Doorn, A T Van der Ploeg. (2005). Neurology. 2005 Jun 28;64(12):2139-41.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
M. L. C. Hagemans, L. P. F. Winkel, P. A. Van Doorn, W. J. C. Hop, M. C. B. Loonen, A. J. J. Reuser, A. T. Van der Ploeg. (2005). Brain, Volume 128, Issue 3, March 2005, Pages 671-677.
Late-onset Pompe disease primarily affects quality of life in physical health domains.
M L C Hagemans, A C J W Janssens, L P F Winkel, K A Sieradzan, A J J Reuser, P A Van Doorn, A T Van der Ploeg. (2004). Comparative Study Neurology. 2004 Nov 9;63(9):1688-92.
- Aglina Lika, MSc, IPA manager.
- Michelle Kruijshaar, PhD, epidemiologist.
- Nadine van der Beek, PhD, neurologist.
- Ans van der Ploeg, professor, pediatrician and head of the centre for lysosomal and metabolic disorders.
- The International Pompe Associations and contact persons below.
How can you participate in the survey?
Please contact us if you are interested in participating in the Pompe Survey: