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Research group/lab  |  Prof. A.T. van der Ploeg

Lysosomal and Metabolic Diseases - Clinical Research

Lysosomal and metabolic diseases are rare genetic disorders caused by metabolic enzyme deficiency.

About our research group/lab

Our research

Background information

Lysosomal and metabolic diseases are rare and therefore little is known about these diseases. Clinical research is essential to learn more and to improve current therapies.

Overall aim

In close collaboration with the laboratory research group we are aiming to better understand lysosomal and metabolic diseases, to improve current treatments options and to develop novel therapies.

Research focus areas

Taking Pompe disease as an example, we perform clinical trials to study the uptake of alpha-glucosidase in patients receiving enzyme replacement therapy. Other clinical studies address the natural course of a disease or the effects of treatments.

Our projects

Key Publications

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME. (2017). Neurology. 2017 Dec 5;89(23):2365-2373.

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.De Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW. (2017). Genet Med. 2017 Jan;19(1):90-97. 

Phenotypical variation within 22 families with Pompe disease.Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. (2013). Orphanet J Rare Dis. 2013 Nov 19;8:182.

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.Van der Beek NA1, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA. (2012). Orphanet J Rare Dis. 2012 Nov 12;7:88.

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.De Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT. (2012). Orphanet J Rare Dis. 2012 Sep 26;7:73.

Imaging of respiratory muscles in neuromuscular disease: A review.Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, de Bruijne M, Tiddens HAWM, van Doorn PA. (2018). Neuromuscul Disord. 2018 Mar;28(3):246-256.

Lung MRI and impairment of diaphragmatic function in Pompe disease.Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HA, van Doorn PA, van der Ploeg AT1. (2015). BMC Pulm Med. 2015 May 6;15:54.

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.Mogalle K, Perez-Rovira A, Ciet P, Wens SC, van Doorn PA, Tiddens HA, van der Ploeg AT, de Bruijne M. (2016). PLoS One. 2016 Jul 8;11(7):e0158912.

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM. (2016). Neurology. 2016 Mar 29;86(13):1260-1.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT. (2012). Neurology. 2012 May 8;78(19):1512-8.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.Ebbink BJ, Brands MM, van den Hout JM, Lequin MH3, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT. (2016). J Inherit Metab Dis. 2016 Mar;39(2):285-92.


Collaborations outside Erasmus MC