Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria

•The European POmpe Consortium stop criteria for enzyme replacement therapy.•We advise to add the (re)evaluation of continuing therapy in advanced disease.•After stopping enzyme replacement therapy, no rapid deterioration was observed.•Treatment decisions should be handled in a multidisciplinary exp...

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Published in:	Neuromuscular disorders : NMD Vol. 30; no. 1; pp. 59 - 66
Main Authors:	van Kooten, H.A., Harlaar, L., van der Beek, N.A.M.E., van Doorn, P.A., van der Ploeg, A.T., Brusse, E., van der Pol (Chair), W.L., Ditters, I.A.M., Hoogendijk-Boon, M.J., Huidekoper, H.H., Kompanje, E.J.O., Oskam, A., Pijnappel, W.W.M., Sibbles, B.J., van den Dorpel, J.J.A., van der Hout, J.M.P., van der Kuy, H., Vulto, A.G., Wagenmakers, M.A.E.M.
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-01-2020
Subjects:	Adult Adult patients Aged Aged, 80 and over Clinical Decision-Making Enzyme replacement therapy Enzyme Replacement Therapy - adverse effects Enzyme Replacement Therapy - standards Female Glycogen Storage Disease Type II - drug therapy Humans Male Middle Aged Netherlands Outcome and Process Assessment, Health Care Pompe disease Practice Guidelines as Topic - standards Prospective Studies Start and stop criteria Treatment discontinuation Treatment guidelines Netherlands Pompe disease Treatment discontinuation Treatment guidelines Enzyme replacement therapy Adult patients Start and stop criteria
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Summary:	•The European POmpe Consortium stop criteria for enzyme replacement therapy.•We advise to add the (re)evaluation of continuing therapy in advanced disease.•After stopping enzyme replacement therapy, no rapid deterioration was observed.•Treatment decisions should be handled in a multidisciplinary expert team. Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed. We evaluated decision making in adult patients in relation to the European POmpe Consortium stop criteria. Of 125 adult Pompe patients, 111 started treatment; subsequently treatment stopped in 24 patients (21%). In 10 patients, treatment was discontinued for medical or personal reasons, as defined in the six stop criteria (median treatment duration: 2.1 years, range: 0.3–14.6 years). Three of these patients continued follow-up (follow-up: 1.3–8.0 years), these patients did not display a more rapid decline after discontinuation. In 14 of 24 patients, therapy ended at time of death. In 10 patients death was related to Pompe disease (median treatment duration: 7.2 years, range: 0.4–10.3 years). All 10 patients were severely affected at start of treatment, treatment had elicited positive effects in eight. The European POmpe Consortium guidelines worked well in decision making on stopping treatment. However, (re)evaluation of the rationale for continuation of treatment in advanced disease stage is not addressed. We suggest to add this to the treatment evaluation and to handle treatment decisions in a multidisciplinary expert team.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2019.11.007