Abstract
Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). These results were confirmed in several retrospective and prospective observations and in meta-analyses. Due to a potential lifelong therapy, moderate efficacy and high treatment costs time of ERT initiation and cessation is an ongoing matter of debate. So far, several national and international recommendations have been published with different criteria concerning diagnosis, initiation and cessation of ERT in LOPD. We therefore formally analysed recent published recommendations and consensus statements of LOPD using diagnostic nodes (DODES) as a special software tool. With DODES, an objective analysis becomes possible if the content of the recommendations is represented as algorithms using cross-compatible elements. This analysis formally disclosed both, areas of great heterogeneity and concordance for the diagnosis and management of LOPD and paved the way for a Pompe disease burden scale focussing on ERT initiation. According to this investigation further clinical research should concentrate on ERT in pre-symptomatic and severely affected LOPD patients and on cessation criteria for ERT as these issues are areas of international uncertainty and discordance.
Similar content being viewed by others
References
van der Ploeg AT, Reuser AJJ (2008) Pompe’s disease. Lancet 372:1342–1353. https://doi.org/10.1016/S0140-6736(08)61555-X (London, England)
Löscher WN, Huemer M, Stulnig TM et al (2018) Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol 265:159–164. https://doi.org/10.1007/s00415-017-8686-6
Kishnani PS, Steiner RD, Bali D et al (2006) Pompe disease diagnosis and management guideline. Genet Med 8:267–288. https://doi.org/10.1097/01.gim.0000218152.87434.f3
Kishnani PS, Corzo D, Leslie ND et al (2009) Early treatment with alglucosidase alfa prolongs long-term survival of infants with Pompe disease. Pediatr Res 66:329–335. https://doi.org/10.1203/PDR.0b013e3181b24e94
Ebbink BJ, Poelman E, Aarsen FK et al (2018) Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. Dev Med Child Neurol 60:579–586. https://doi.org/10.1111/dmcn.13740
Ebbink BJ, Aarsen FK, Van Gelder CM et al (2012) Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology 78:1512–1518. https://doi.org/10.1212/WNL.0b013e3182553c11
Milverton J, Newton S, Merlin T (2018) The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review. J Inherit Metab Dis 42:1–8. https://doi.org/10.1007/s10545-018-0198-8
Montagnese F, Barca E, Musumeci O et al (2015) Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 262:968–978. https://doi.org/10.1007/s00415-015-7664-0
Güngör D, Kruijshaar ME, Plug I et al (2013) Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study. Orphanet J Rare Dis 8:49. https://doi.org/10.1186/1750-1172-8-49
Güngör D, Kruijshaar ME, Plug I et al (2016) Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis 39:253–260. https://doi.org/10.1007/s10545-015-9889-6
Güngör D, De Vries JM, Brusse E et al (2013) Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab 109:174–178. https://doi.org/10.1016/j.ymgme.2013.03.016
Güngör D, Schober AK, Kruijshaar ME et al (2013) Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab 109:371–376. https://doi.org/10.1016/j.ymgme.2013.05.021
Schoser B, Bilder DA, Dimmock D et al (2017) The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol 17:202. https://doi.org/10.1186/s12883-017-0983-2
van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406. https://doi.org/10.1056/NEJMoa0909859
Kuperus E, Kruijshaar ME, Wens SCAC et al (2017) Long-term benefit of enzyme replacement therapy in Pompe disease. Neurology 89:2365–2373. https://doi.org/10.1212/WNL.0000000000004711
Toscano A, Schoser B (2013) Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 260:951–959. https://doi.org/10.1007/s00415-012-6636-x
Musumeci O, la Marca G, Spada M et al (2016) LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry 87:5–11. https://doi.org/10.1136/jnnp-2014-310164
van der Beek NAME, van Capelle CI, van der Velden-van Etten KI et al (2011) Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab 104:129–136. https://doi.org/10.1016/j.ymgme.2011.06.012
Hundsberger T, Rohrbach M, Kern L, Rösler KM (2013) Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol 260:2279–2285. https://doi.org/10.1007/s00415-013-6980-5
Tarnopolsky M, Katzberg H, Petrof BJ et al (2016) Pompe disease: diagnosis and management. Evidence-based guidelines from a Canadian expert panel. Can J Neurol Sci 43:1–14. https://doi.org/10.1017/cjn.2016.37
Al Jasmi F, Al Jumah M, Alqarni F et al (2015) Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol 15:205. https://doi.org/10.1186/s12883-015-0412-3
Cupler EJ, Berger KI, Leshner RT et al (2012) Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 45:319–333. https://doi.org/10.1002/mus.22329
Llerena Junior JC, Nascimento OJM, Oliveira ASB et al (2016) Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Arq Neuropsiquiatr 74:166–176. https://doi.org/10.1590/0004-282X20150194
Bhengu L, Davidson A, du Toit P et al (2014) Diagnosis and management of Pompe disease. S Afr Med J 104:273–274. https://doi.org/10.7196/SAMJ.7386
van der Ploeg AT, Kruijshaar ME, Toscano A et al (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 24:768–e31. https://doi.org/10.1111/ene.13285
Schoser B, Laforêt P, Kruijshaar ME et al (2015) 208th ENMC International Workshop: formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014. Neuromuscul Disord 25:674–678. https://doi.org/10.1016/j.nmd.2015.04.006
Putora P, Blattner M (2010) Dodes (diagnostic nodes) for guideline manipulation. J Radiat Onc Inform 2:1–8. https://doi.org/10.5166/jroi-2-1-6
Putora PM, Panje CM, Papachristofilou A et al (2014) Objective consensus from decision trees. Radiat Oncol 9:270. https://doi.org/10.1186/s13014-014-0270-y
Putora PM, Oldenburg J (2013) Swarm-based medicine. J Med Internet Res 15:e207. https://doi.org/10.2196/jmir.2452
Panje CM, Glatzer M, von Rappard J et al (2017) Applied Swarm-based medicine: collecting decision trees for patterns of algorithms analysis. BMC Med Res Methodol 17:123. https://doi.org/10.1186/s12874-017-0400-y
Hundsberger T, Hottinger AF, Roelcke U et al (2016) Patterns of care in recurrent glioblastoma in Switzerland: a multicentre national approach based on diagnostic nodes. J Neurooncol 126:175–183. https://doi.org/10.1007/s11060-015-1957-0
Zumstein V, Betschart P, Abt D et al (2018) Surgical management of urolithiasis—a systematic analysis of available guidelines. BMC Urol 18:25. https://doi.org/10.1186/s12894-018-0332-9
Lukacs Z, Cobos PN, Wenninger S et al (2016) Prevalence of Pompe disease in 3076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 87:295–298. https://doi.org/10.1212/WNL.0000000000002758
Echaniz-Laguna A, Carlier R-Y, Laloui K et al (2015) Should patients with asymptomatic pompe disease be treated? A nationwide study in france. Muscle Nerve 51:884–889. https://doi.org/10.1002/mus.24653
De Vries JM, Kuperus E, Hoogeveen-Westerveld M et al (2017) Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genet Med 19:90–97. https://doi.org/10.1038/gim.2016.70
van Houtte J, De Bleecker JL (2019) Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa. Acta Neurol Belg 119:1–3. https://doi.org/10.1007/s13760-019-01089-4
Oliveira Santos M, Evangelista T, Conceição I (2018) Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy. Neuromuscul Disord 28:965–968. https://doi.org/10.1016/j.nmd.2018.08.002
de Vries JM, Brugma J-DC, Özkan L et al (2011) First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab 104:552–555. https://doi.org/10.1016/j.ymgme.2011.09.012
Strothotte S, Strigl-Pill N, Grunert B et al (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257:91–97. https://doi.org/10.1007/s00415-009-5275-3
Schoser B, Stewart A, Kanters S et al (2017) Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol 264:621–630. https://doi.org/10.1007/s00415-016-8219-8
Panje CM, Glatzer M, Sirén C et al (2018) Treatment Options in Oncology. JCO Clin cancer informatics 2:1–10. https://doi.org/10.1200/CCI.18.00017
Kohler L, Puertollano R, Raben N (2018) Pompe disease: from basic science to therapy. Neurotherapeutics 15:928–942. https://doi.org/10.1007/s13311-018-0655-y
Regnery C, Kornblum C, Hanisch F et al (2012) 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 35:837–45. https://doi.org/10.1007/s10545-012-9451-8
Van Der Meijden JC, Kruijshaar ME, Rizopoulos D et al (2018) Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. Orphanet J Rare Dis 13:1–6. https://doi.org/10.1186/s13023-018-0824-4
Hundsberger T, Rösler KM, Findling O (2014) Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol 261:1684–90. https://doi.org/10.1007/s00415-014-7402-z
Scheidegger O, Leupold D, Sauter R et al (2018) 36-months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. J Neurol 265:2783–2788. https://doi.org/10.1007/s00415-018-9065-7
Van der Ploeg AT, Barohn R, Carlson L et al (2012) Open-label extension study following the late-onset treatment study (LOTS) of alglucosidase alfa. Mol Genet Metab 107:456–61. https://doi.org/10.1016/j.ymgme.2012.09.015
Chien Y-H, Lee N-C, Hwu W-L, Fang J-Y (2018) Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease—need for an earlier treatment? Eur J Neurol 25:e111–e111. https://doi.org/10.1111/ene.13730
Glatzer M, Panje CM, Sirén C et al (2018) Decision making criteria in oncology. Oncology. https://doi.org/10.1159/000492272
Musumeci O, Marino S, Granata F et al (2018) Central nervous system involvement in late onset Pompe disease (LOPD): clues from neuroimaging and neuropsychological analysis. Eur J Neurol 26:442–451. https://doi.org/10.1111/ene.13835
Schoser B (2018) Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain. Dev Med Child Neurol 60:536–536. https://doi.org/10.1111/dmcn.13762
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflicts of interest
TH served as a scientific advisor for and received institutional grants from Sanofi Genzyme (Switzerland). BS is a scientific advisor of Audentes Therapeutics. Lupin Therapeutics and Nexien BioPharma, Inc. He received speaker honoraria from Sanofi Genzyme, Amicus therapeutics, and Kedrion. He received unrestricted research grants from Sanofi Genzyme and Grennovation. KMR was a scientific advisor for Sanofi Genzyme (Switzerland) and Biogen Switzerland AG; and has received speaker honoraria from Sanofi Genzyme (Switzerland) and Shire Switzerland GmbH. DL declares no conflict of interest. PMP received institutional research or educational grants from AstraZeneca, Celgene, Sanofi Genzyme and Roche.
Ethical approval
The manuscript does not contain clinical studies or patient data and was done as a literature analysis. Therefore, no formal IRB approval was submitted.
Rights and permissions
About this article
Cite this article
Hundsberger, T., Schoser, B., Leupold, D. et al. Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes—the Pompe disease burden scale. J Neurol 266, 2010–2017 (2019). https://doi.org/10.1007/s00415-019-09373-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-019-09373-2