title: 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.
abstract: Pompe disease is a rare, progressive lysosomal storage disorder for which enzyme therapy (ERT) became available in 2006. Four years earlier, the IPA/Erasmus MC survey, an international longitudinal prospective survey, was established to collect information on the natural course of the disease and its burden on patients. The survey is a collaboration between Erasmus MC University Medical Center and the International Pompe Association (IPA) and comprises an annual questionnaire that was specifically designed to assess the symptoms and problems of the disease. Here we review our results of over 10 years of follow-up, and discuss the survey's contribution to the field. Tracking 408 Pompe patients between 2002 and 2013, the cumulative data reveals the broad range of clinical manifestations that interfere with patients' lives. The survey allowed us to quantify the rate of disease progression and the positive effects of ERT on patients' quality of life, fatigue, and participation in daily life. Furthermore, it showed for the first time that survival is reduced in adult Pompe disease and improved by ERT. Our results show that a patient survey can serve as a valuable and reliable tool for obtaining quantifiable information on the natural course of a rare disease and on the effects of therapy in a large cohort over a very long time. Most importantly, by working with patient reported outcomes, the survey provides the data that is truly relevant to the patient and complementary to clinical datasets.
authors.affiliation: Center for Lysosomal and Metabolic diseases, Erasmus MC University Medical Center, Dr. Molewaterplein 60, Room Sb-1629, 3000, CB, Rotterdam, The Netherlands.
authors.forename: J C
authors.initials: JC
authors.lastname: van der Meijden
authors.forename: D
authors.initials: D
authors.lastname: Güngör
authors.forename: M E
authors.initials: ME
authors.lastname: Kruijshaar
authors.forename: A D J
authors.initials: AD
authors.lastname: Muir
authors.forename: H A
authors.initials: HA
authors.lastname: Broekgaarden
authors.forename: A T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005221:Fatigue; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D063868:Patient Outcome Assessment; D010358:Patient Participation; D011788:Quality of Life; D057566:Self Report; D055815:Young Adult; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: D000520:alpha-Glucosidases
references.citation: Neuromuscul Disord. 2007 Jul;17(7):537-43
references.pmid: 17475490
references.citation: Eur J Hum Genet. 1999 Sep;7(6):713-6
references.pmid: 10482961
references.citation: J Pediatr. 2006 May;148(5):671-676
references.pmid: 16737883
references.citation: J Neurol. 2013 Apr;260(4):951-9
references.pmid: 22926164
references.citation: JAMA. 1989 Aug 18;262(7):925-30
references.pmid: 2754793
references.citation: Ther Adv Neurol Disord. 2009 May;2(3):143-53
references.pmid: 21179524
references.citation: Orphanet J Rare Dis. 2013 Oct 12;8:160
references.pmid: 24119230
references.citation: N Engl J Med. 2010 Apr 15;362(15):1396-406
references.pmid: 20393176
references.citation: Neurology. 2007 Jan 9;68(2):99-109
references.pmid: 17151339
references.citation: Neurology. 2005 Jun 28;64(12):2139-41
references.pmid: 15985590
references.citation: J Neurol. 2005 Aug;252(8):875-84
references.pmid: 16133732
references.citation: Neurology. 2000 Oct 24;55(8):1122-8
references.pmid: 11071489
references.citation: J Inherit Metab Dis. 2012 May;35(3):505-11
references.pmid: 22008944
references.citation: Neurology. 1970 Apr;20(4):382
references.pmid: 5534995
references.citation: J Neurol. 2010 Jan;257(1):91-7
references.pmid: 19649685
references.citation: Orphanet J Rare Dis. 2012 Sep 26;7:73
references.pmid: 23013746
references.citation: Neurology. 2004 Nov 9;63(9):1688-92
references.pmid: 15534256
references.citation: Neuromuscul Disord. 2013 Mar;23(3):256-64
references.pmid: 23273871
references.citation: Arch Neurol. 1989 Oct;46(10):1121-3
references.pmid: 2803071
references.citation: Muscle Nerve. 2002 Mar;25(3):370-7
references.pmid: 11870713
references.citation: Neurology. 2012 May 8;78(19):1512-8
references.pmid: 22539577
references.citation: J Neurol. 2007 Jul;254(7):941-5
references.pmid: 17351726
references.citation: J Neurol. 2012 May;259(5):952-8
references.pmid: 22081099
references.citation: Brain. 2005 Mar;128(Pt 3):671-7
references.pmid: 15659425
references.citation: Neuromuscul Disord. 2007 Oct;17(9-10):698-706
references.pmid: 17643989
references.citation: Neuromuscul Disord. 2008 Jun;18(6):447-52
references.pmid: 18508267
references.citation: J Inherit Metab Dis. 2010 Dec;33(6):747-50
references.pmid: 20865334
references.citation: J Inherit Metab Dis. 2011 Oct;34(5):1045-52
references.pmid: 21499718
references.citation: J Pediatr. 2000 Aug;137(2):283-5
references.pmid: 10931430
references.citation: Lancet. 2000 Jul 29;356(9227):397-8
references.pmid: 10972374
references.citation: Mol Genet Metab. 2012 Nov;107(3):448-55
references.pmid: 23040796
references.citation: Pediatrics. 2003 Aug;112(2):332-40
references.pmid: 12897283
references.citation: Neuromuscul Disord. 2011 Jul;21(7):477-82
references.pmid: 21550241
references.citation: Mol Genet Metab. 2013 Jun;109(2):174-8
references.pmid: 23603069
references.citation: Mol Genet Metab. 2011 Sep-Oct;104(1-2):129-36
references.pmid: 21763167
references.citation: Genet Med. 2001 Mar-Apr;3(2):132-8
references.pmid: 11286229
references.citation: Orphanet J Rare Dis. 2011 Jun 01;6:34
references.pmid: 21631931
references.citation: Orphanet J Rare Dis. 2012 Nov 12;7:88
references.pmid: 23147228
references.citation: Neurology. 2006 Feb 28;66(4):581-3
references.pmid: 16505317
references.citation: Clin Neurol Neurosurg. 2011 Jun;113(5):350-7
references.pmid: 21477922
references.citation: Orphanet J Rare Dis. 2013 Mar 27;8:49
references.pmid: 23531252
references.citation: Lancet. 2008 Oct 11;372(9646):1342-53
references.pmid: 18929906
references.citation: Mol Genet Metab. 2013 Aug;109(4):371-6
references.pmid: 23849261
references.citation: J Inherit Metab Dis. 2012 Sep;35(5):837-45
references.pmid: 22290025
references.citation: Am J Med Genet. 1998 Aug 27;79(1):69-72
references.pmid: 9738873
references.citation: Muscle Nerve. 2008 Oct;38(4):1236-45
references.pmid: 18816591
references.citation: J Inherit Metab Dis. 2001 Apr;24(2):266-74
references.pmid: 11405345
references.citation: Arch Phys Med Rehabil. 2009 May;90(5):856-66
references.pmid: 19406308
references.citation: Neurology. 1999 Nov 10;53(8):1648-54
references.pmid: 10563607