Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
BMC Neurology
Published in: BMC Neurology 1/2017

Open Access 01-12-2017 | Research article

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

Authors: Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma S. James, Suyash Prasad

Published in: BMC Neurology | Issue 1/2017

Login to get access

Abstract

Background

Humanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain. This article characterizes the humanistic burden of Pompe disease through a systematic literature review.

Methods

A systematic search of MEDLINE® and Embase® with back-referencing and supplementary literature searches was performed to retrieve data from interventional and non-interventional studies on the humanistic burden of Pompe disease. Publications were screened according to predefined criteria, extracted, and assessed for quality. Extracted data were narratively synthesized.

Results

No publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD). Thirteen publications were initiated after approval of ERT, two were initiated before, and two overlapped the approval of ERT. The review shows that LOPD patients have a significantly lower HRQoL than the general population, even if treated with ERT. On transitioning to ERT, treatment was associated with improvement in the physical component score of the SF-36 and fatigue, although the SF-36 mental component score remained stable. Physical HRQoL remained below population norms after 4 years of ERT. Significantly more ERT-treated patients reported pain than controls, and bodily pain worsened in later years following ERT initiation. Treatment-naïve LOPD patients had significantly poorer ADL functioning compared with the general population, although ERT stabilized deteriorating functioning impairment. ERT studies showed caregivers provide 17.7 h/week informal care on average. Fifty percent, 40% and <20% of caregivers reported mental health, physical health, and financial/relational problems, respectively. In ERT-naïve patients, wheelchair use and home ventilatory support was associated with lower physical HRQoL and ADL functioning. In ERT-treated patients, key factors predicting worse HRQoL and ADL functioning were higher respiratory distress, poorer sleep quality, greater pain, and more fatigue.

Conclusions

Pompe disease has a substantial humanistic burden, with strong inter-relationships among and between humanistic burden parameters and clinical progression.
Literature
1.
Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, et al. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2012;78:1512–8.CrossRefPubMed
2.
Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JMP, Weisglas-Kuperus N, Jaeken J, et al. Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy. BMC Musculoskelet Disord. 2013;14(Suppl 2):14.
3.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, et al. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012;35:505–11.CrossRefPubMed
4.
Bhengu L, Davidson A, du Toit P, Els C, Gerntholzt T, Govendrageloo K, et al. Diagnosis and management of Pompe disease. S Afr Med. 2014;104:273–4.CrossRef
5.
Chien Y-H, Hwu W-L, Lee N-C. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol. 2013;54:219–27.CrossRefPubMed
6.
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. 2017;264:621–30.CrossRefPubMed
7.
van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP. Poll-the BT, et al. the natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112:332–40.CrossRefPubMed
8.
Dasouki M, Jawdat M, Almadhoun O, Pasnnor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32:751–76.CrossRefPubMedPubMedCentral
9.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80–8.CrossRefPubMed
10.
Boentert M, Florian A, Dräger B, Young P, Yilmaz A. Pattern and prognostic value of cardiac involvement in patients with late-onset Pompe disease: a comprehensive cardiovascular magnetic resonance approach. J Cardiovasc Magn Reson. 2016;18:91.CrossRefPubMedPubMedCentral
11.
Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT. European POmpe consortium (EPOC). Minutes of the European POmpe consortium (EPOC) meeting march 27 to 28, 2015, Munich, Germany. Acta Myol. 2015;34:141–3.PubMedPubMedCentral
12.
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7:713–6.CrossRefPubMed
13.
New 15, Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe’s disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. J Inherit Metab Dis. 1987;10:11–7.
14.
Bashan N, Potashnik R, Barash V, Gutman A, Moses SW. Glycogen storage disease type II in Israel. Isr J Med Sci. 1988;24:224–7.PubMed
15.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late onset Pompe disease. Muscle Nerve. 2012;45:319–33.CrossRefPubMed
16.
ElMallah MK, Falk DJ, Nayak S, Federico RA, Sandhu MS, Poirier A, et al. Sustained correction of motor neuron histopathology following intramuscular delivery of AAV in Pompe mice. Mol Ther. 2014;22:702–12.CrossRefPubMedPubMedCentral
17.
Falk DJ, Soustek MS, Todd AG, Mah CS, Cloutier DA, Kelley JS, et al. Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice. Mol Ther Method Clin Develop. 2015;2:15007.CrossRef
18.
DeRuisseau LR, Fuller DD, Qui K, DeRuisseau KC, Donnelly WH Jr, Mah C, et al. Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A. 2009;106:9419–24.CrossRefPubMedPubMedCentral
19.
Shea L, Raben N. Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):S42–7.PubMedPubMedCentral
20.
Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012;106:301–9.CrossRefPubMed
21.
Moher D, Liberati A, Tetzlaff J, Altman DG, PRISMA group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 2009;6:e1000097.CrossRefPubMedPubMedCentral
22.
23.
Shea BJ, Grimshaw JM, Wells GA, Boers M, Andersson N, Hamel C, et al. Development of AMSTAR: a measurement tool to assess the methodological quality of systematic reviews. BMC Med Res Methodol. 2007;7:10.CrossRefPubMedPubMedCentral
24.
Higgins JP, Altman DG, Gøtzsche PC, Jüni P, Moher D, Oxman AD, et al. The Cochrane Collaboration's tool for assessing risk of bias in randomised trials. BMJ. 2011;343:d5928.CrossRefPubMedPubMedCentral
25.
Angelini C, Semplicini C, Tonin P, Filosto M, Pegoraro E, Sorarù G, et al. Progress in enzyme replacement therapy in glycogen storage disease type II. Ther Adv Neurol Disord. 2009;2:143–53.CrossRefPubMedPubMedCentral
26.
Aslan GK, Huseyinsinoglu BE, Oflazer P, Gurses N, Kiyan E. Inspiratory muscle training in late-onset Pompe disease: the effects on pulmonary function tests, quality of life, and sleep quality. Lung. 2016;194:555–61.CrossRefPubMed
27.
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, et al. 36-months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012;35:837–45.CrossRefPubMed
28.
Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, et al. 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. 2010;257:91–7.CrossRefPubMed
29.
Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, et al. 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. 2016;39:253–60.CrossRefPubMed
30.
van der Meijden JC, Güngör D, Kruijshaar ME, Muir ADJ, Broekgaarden HA, Van Der Ploeg AT. 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 Inherit Metab Dis. 2015;38:495–503.CrossRefPubMed
31.
Van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groenveld GJ, et al. A randomized study of Alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362:1396–406.CrossRefPubMed
32.
Hagemans MLC, Janssens ACJW, Winkel LPF, Sieradzan KA, Reuser AJJ, Van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004;63:1688–92.CrossRefPubMed
33.
Hagemans MLC, Laforêt P, Hop WJC, Merkies ISJ, Van Doorn PA, Reuser AJJ, et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam handicap scale. Neuromuscul Disord. 2007;17:537–43.CrossRefPubMed
34.
Boentert M, Karabul N, Wenninger S, Stubbe-Dräger B, Mengel E, Schoser B, et al. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease. Eur J Neurol. 2015;22:369–76.CrossRefPubMed
35.
Freedman R, Sahhar M, Curnow L, Lee J, Peters H. Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families. J Genet Couns. 2013;22:517–32.CrossRefPubMed
36.
Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, et al. Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab. 2013;109:371–6.CrossRefPubMed
37.
Kanters TA, Van Der Ploeg AT, Brouwer WBF, Hakkaart L. The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument. Mol Genet Metab. 2013;110:281–6.CrossRefPubMed
38.
Karabul N, Kruijshaar ME, Schober A, Güngör D, Hanisch F. Pain in adult patients with Pompe disease. Mol Genet Metab Rep. 2014;2:139–40.CrossRef
39.
Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, et al. Urge incontinence and gastrointestinal symptoms in adult patients with Pompe disease: a cross-sectional survey. JIMD Rep. 2014;17:53–61.CrossRefPubMedPubMedCentral
40.
Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, et al. Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis. 2012;35:301–10.CrossRefPubMed
41.
van Capelle CI, Winkel LPF, Hagemans MLC, Shapira SK, Arts WFM, Van Doorn PA, et al. Eight years’ experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008;18(6):447–52.CrossRefPubMed
42.
Matsumoto H, Clayton-Krasinski DA, Gomez JA, Booker WA, Hyman JE, Roye DP Jr, et al. Development and initial validation of the assessment of caregiver experience with neuromuscular disease. J Pediatr Orthop. 2011;31:284–92.CrossRefPubMed
43.
Payot A, Barrington KJ. The quality of life of young children and infants with chronic medical problems: review of the literature. Curr Probl Pediatr Adolesc Health Care. 2011;41:91–101.CrossRefPubMed
44.
45.
Shotelersuk V, Shuangshoti S, Chotivitayatarakorn P, Chouwsrikul W, Wattanasirmkit V, Maneesri S, et al. Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease. J Med Assoc Thail. 2002;85(Suppl 1):S271–9.
46.
Martini C, Ciana G, Benettoni A. Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology. 2001;57:906–8.CrossRefPubMed
47.
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, et al. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012;14:800–10.CrossRefPubMedPubMedCentral
48.
Tan QKG, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013;108:142–4.CrossRefPubMed
49.
Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, et al. Cognitive decline in classic infantile Pompe disease: an underacknowledged challenge. Neurology. 2016;86:1260–1.CrossRefPubMed
50.
van Capelle CI, Goedegebure A, Homans NC, Hoeve HLJ, Reuser AJ, van der Ploeg AT, et al. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis. 2010;33:597–602.CrossRefPubMedPubMedCentral
51.
Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, et al. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state. Mol Genet Metab Rep. 2016;9:98–105.CrossRefPubMedPubMedCentral
52.
Prasad S, James E. The challenges associated with developing therapies for rare diseases. Br J Med Procur. 2009;1:42–8.
53.
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, et al. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep. 2015;20:65–75.CrossRefPubMedPubMedCentral
54.
Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis. 2010;33:747–50.CrossRefPubMed
55.
Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, et al. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis. 2015;38:445–57.CrossRefPubMed
56.
Kishnani PS, Corzo D, Leslie ND, Gruskin D, van der Ploeg A, Clancy JP, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66:329–35.CrossRefPubMedPubMedCentral
57.
Richard E, Douillard-Guilloux G, Caillaud C. New insights into therapeutic options for Pompe disease. Life. 2011;63:979–86.PubMed
58.
Safdar A, Nilsson M, Akhtar M, Tarnopolsky M. Exosome-mRNA (EXERNA) therapy for Pompe disease. Mol Genet Metab. 2016;117:S100.CrossRef
59.
60.
Bergsma AJ, In’t Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WP. From cryptic toward canonical pre-mRNA splicing in Pompe disease: a pipeline for the development of antisense oligonucleotides. Mol Ther Nucleic Acids. 2016;5:e361.CrossRefPubMedPubMedCentral
61.
62.
Xu F, Ding E, Migone F, Serra D, Schneider A, Chen YT, et al. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA. J Gene Med. 2005;7:171–8.CrossRefPubMed
63.
So K, Iizuka S, Kobayashi H, Kimura T, Fukuda T, Shen J, et al. neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction. Gene Ther. 2010;17:521–30.CrossRef
64.
van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, et al. Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood. 2010;115:5329–37.CrossRefPubMed
65.
66.
67.
68.
Metadata
Title
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
Authors
Benedikt Schoser
Deborah A. Bilder
David Dimmock
Digant Gupta
Emma S. James
Suyash Prasad
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2017
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-017-0983-2

Other articles of this Issue 1/2017

BMC Neurology 1/2017 Go to the issue

Case report

Injury of ascending reticular activating system associated with delayed post-hypoxic leukoencephalopathy: a case report

Research article

Electrocardiographic assessments and cardiac events after fingolimod first dose – a comprehensive monitoring study

Case report

A rare case of bilateral cervical vagal neurofibromas: role of high-resolution ultrasound

Research article

Feasibility and diagnostic accuracy of point-of-care handheld echocardiography in acute ischemic stroke patients – a pilot study

Research article

The usefulness of chief complaints to predict severity, ventilator dependence, treatment option, and short-term outcome of patients with Guillain-Barré syndrome: a retrospective study

Case report

Subarachnoid small vein occlusion due to inflammatory fibrosis—a possible mechanism for cerebellar infarction in cryptococcal meningoencephalitis: a case report