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Pediatric Drugs

Published in:

01-02-2011 | Review Article

Disease Registries and Outcomes Research in Children

Focus on Lysosomal Storage Disorders

Authors: Simon Jones, Emma James, Dr Suyash Prasad

Published in: Pediatric Drugs | Issue 1/2011

Abstract

Assessing medicines specifically for use in children has been neglected in the past, with the majority of formal clinical studies being conducted in adults. Clinical trials are a pivotal part of the drug approval process; however, they are not always applicable to the diverse populations — including children — that receive the drug after approval. They may not be the most informative assessment tool, especially in rare (or orphan) disorders where there are few patients, due to a lack of existing natural history data and the challenges of designing appropriately powered statistical analyses.

Disease registries, which can collect clinical information in larger, more heterogeneous populations than can be included in a clinical trial, are becoming increasingly valuable. Their use is particularly beneficial for diseases affecting very small patient populations, such as lysosomal storage disorders (LSDs), and for looking at specific populations, for example, children. Such disease registries can provide natural history data as well as enable the impact of therapy to be examined. Moreover, despite potential limitations of enrollment bias and unmonitored data, patient registries can play a valuable role in assuring pediatric health, providing longitudinal data that can be used to monitor developmental outcomes in chronic lifelong diseases, and assessing the effectiveness of treatment.

This review describes the role of registries in drug development and regulatory approval, the impact of global registry programs on pediatric research, with some examples from the field of LSDs, and how registries are impacting the clinical care such children receive.

Gliklich RE, Bertagna M. The emerging role of the patient registry. Good Clin Pract J 2006 Dec: 14–7

Koren G, Rieder M, MacLeod SM. The global alliance for pediatric pharmacology: the future is here and now. Paediatr Drugs 2009; 11(1): 4–5PubMedCrossRef

Permanand G, Mossialos E, McKee M. The EU’s new paediatric medicines legislation: serving children’s needs? Arch Dis Child 2007 Sep; 92(9): 808–11PubMedCrossRef

Clarkson A, Conroy S, Burroughs K, et al. Surveillance for adverse drug reactions in children: a paediatric monitoring centre. Paediatr Perinat Drug Ther 2004; 6: 20–3CrossRef

EMEA. Executive summary report on EMEA meeting with interested parties and research centres on ENCePP (European Network of Centres for Pharmacoepidemiology and Pharmacovigilance). 28 June 2007. Doc. ref. EMEA/601107/2007 [online]. Available from URL: http://www.emea.europa.eu/pdfs/human/phv/60110507en.pdf [Accessed 2010 Sep 22]

Steg PG, Bhatt DL, Wilson PW, et al. One-year cardiovascular event rates in outpatients with atherothrombosis. JAMA 2007 Mar 21; 297(11): 1197–206PubMedCrossRef

Cooperberg MR, Broering JM, Litwin MS, et al. The contemporary management of prostate cancer in the United States: lessons from the Cancer of the Prostate Strategic Urologic Research Endeavor (CapSURE), a national disease registry. J Urol 2004 Apr; 171(4): 1393–401PubMedCrossRef

Gheorghiade M, Filippatos G. Reassessing treatment of acute heart failure syndromes: the ADHERE Registry. Eur Heart J 2005; 7Suppl. B: B13–9

Baumeister SK, Foeldvari Z, von Rekowski B, et al. German and UK Treat-NMD Patient Registries for spinal muscular atrophy: natural history and clinical care [online]. Available from URL: http://www.treat-nmd.eu/userfiles/file/general/SMAregister_D+UK_0409.pdf [Accessed 2010 Aug 18]

10.

Drogari E, Smith I, Beasley M, et al. Timing of strict diet in relation to fetal damage in maternal phenylketonuria: an international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet 1987 Oct 24; 2(8565): 927–30PubMedCrossRef

11.

Andersson H, Kaplan P, Kacena K, et al. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008 Dec; 122(6): 1182–90PubMedCrossRef

12.

Arn P, Wraith JE, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr 2009 Jun; 154(6): 859–64.e3PubMedCrossRef

13.

Charrow J, Dulisse B, Grabowski GA, et al. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007 Mar; 71(3): 205–11PubMedCrossRef

14.

Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007 Apr; 30(2): 184–92PubMedCrossRef

15.

Fairley C, Zimran A, Phillips M, et al. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis 2008; 31(6): 738–44PubMedCrossRef

16.

Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008 Nov; 64(5): 550–5PubMedCrossRef

17.

Ortiz A, Cianciaruso B, Cizmarik M, et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant 2010 Mar; 25(3): 769–75PubMedCrossRef

18.

Ortiz A, Oliveira JP, Waldek S, et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008 May; 23(5): 1600–7PubMedCrossRef

19.

Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007 May; 91(1): 37–47PubMedCrossRef

20.

Sobreira E, Pires RF, Cizmarik M, et al. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Mol Genet Metab 2007 Jan; 90(1): 81–6PubMedCrossRef

21.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002 Aug 1; 113(2): 112–9PubMedCrossRef

22.

Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007 Jan; 22(1): 119–26PubMedCrossRef

23.

Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008 Feb; 93(2): 112–28PubMedCrossRef

24.

Jones SA, Almassy Z, Beck M, et al. Mortality and cause of death in mucopolysaccharidosis type II: a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 2009 Aug; 32(4): 534–43PubMedCrossRef

25.

Wraith JE, Beck M, Giugliani R, et al. Initial report from the Hunter Outcome Survey. Genet Med 2008 Jul; 10(7): 508–16PubMedCrossRef

26.

Zurynski Y, Frith K, Leonard H, et al. Rare childhood diseases: how should we respond? Arch Dis Child 2008 Dec; 93(12): 1071–4PubMedCrossRef

27.

Brady RO, Gal AE, Kanfer JN, et al. The metabolism of glucocerebrosides: 3. Purification and properties of a glucosyl- and galactosylceramide-cleaving enzyme from rat intestinal tissue. J Biol Chem 1965 Oct; 240(10): 3766–70PubMed

28.

Desnick R, Iannou Y, Eng C. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 3733–74

29.

Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 3421–52

30.

Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008 Mar; 167(3): 267–77PubMedCrossRef

31.

Gliklich RE, Jones SS. Clinical patient data registries. AAO-HNS Bulletin 2008 Jan [online]. Available from URL: http://www.entnet.org/EducationAndResearch/loader.cfm?csModule=security%2fgetfile&pageid=10282 [Accessed 2010 Nov 11]

32.

Gliklich RE. When clinical trials aren’t enough: effectiveness and real-world data underlie the global need for more patient registries and standards. Appl Clin Trials 2008 March [online]. Available from URL: http://appliedclinicaltrialsonline.findpharma.com/appliedclinicaltrials/article/articleDetail.jsp?id=500436&sk=&date=&pageID=4 [Accessed 2010 Nov 11]

33.

Zurynski YA, Peadon E, Bower C, et al. Impacts of national surveillance for uncommon conditions in childhood. J Paediatr Child Health 2007 Nov; 43(11): 724–31PubMedCrossRef

34.

Oscarson M. Pharmacogenetics of drug metabolising enzymes: importance for personalised medicine. Clin Chem Lab Med 2003 Apr; 41(4): 573–80PubMedCrossRef

35.

Greenberg JD, Ostrer H. Predicting response to TNF antagonists in rheumatoid arthritis: the promise of pharmacogenetics research using clinical registries. Bull NYU Hosp Jt Dis 2007; 65: 139–42PubMed

36.

Cresci S, Jones PG, Sucharov CC, et al. Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes. Pharmacogenomics 2008 Oct; 9(10): 1403–17PubMedCrossRef

37.

Prasad S, James E, Stewart F. Genetic variation and an increasingly personalized approach to medicine: the lysosomal storage disorder registries [abstract]. Clin Ther 2010; 32Suppl. B: S79

38.

Food and Drug Administration. Guidance for industry: good pharmacovigilance practices and pharmacoepidemiologic assessment. March 2005 [online]. Available from URL: http://www.fda.gov/downloads/RegulatoryInformation/Guidances/UCM126834.pdf [Accessed 2010 Sep 22]

39.

Hampton T. Rare disease research gets boost. JAMA 2006 Jun 28; 295(24): 2836–8PubMedCrossRef

40.

European Commission. Decision no. 1295/1999/EC of the European Parliament and of the Council of 29 April 1999 adopting a programme of community action on rare diseases within the framework for action in the field of public health (1999 to 2003) [online]. Available from URL: http://eur-lex.europa.eu/pri/en/oj/dat/1999/l_155/l_15519990622en00010005.pdf [Accessed 2010 Nov 22]

41.

National Institute for Health and Clinical Excellence. Appraising orphan drugs. 16 March 2006 [online]. Available from URL: http://www.nice.org.uk/niceMedia/pdf/smt/120705item4.pdf [Accessed 2010 Apr 8]

42.

Prasad S, James E. The challenges associated with developing therapies for rare diseases. Br J Med Procur 2009; 1: 42–8

43.

Behera M, Kumar A, Soares HP, et al. Evidence-based medicine for rare diseases: implications for data interpretation and clinical trial design. Cancer Control 2007 Apr; 14(2): 160–6PubMed

44.

Stineman MG, Musick DW. Protection of human subjects with disability: guidelines for research. Arch Phys Med Rehabil 2001; 82Suppl. 2: S9–14PubMed

45.

Goldberg R, Pitts P. Prescription for progress: the critical path to drug development. A working paper of the 21st century FDA task force. New York: Manhattan Institute, Jun 2006 [online]. Available from URL: http://www.manhattan-institute.org/html/fda_task_1.htm [Accessed 2010 Nov 22]

46.

European Organisation for Rare Diseases. Paediatric drugs and rare diseases [online]. Available from URL: http://www.eurordis.org/content/paediatric-drugs-and-rare-diseases. [Accessed 2010 Sep 22]

47.

McIntyre J, Conroy S, Avery A, et al. Unlicensed and off label prescribing of drugs in general practice. Arch Dis Child 2000 Dec; 83(6): 498–501PubMedCrossRef

48.

Turner S, Longworth A, Nunn AJ, et al. Unlicensed and off label drug use in paediatric wards: prospective study. BMJ 1998 Jan 31; 316(7128): 343–5PubMedCrossRef

49.

Conroy S, McIntyre J, Choonara I. Unlicensed and off label drug use in neonates. Arch Dis Child Fetal Neonatal Ed 1999 Mar; 80(2): F142–4; discussion F144-5PubMedCrossRef

50.

Prasad S. Towards a better understanding of medicines development in children. Pharmaceut Physician 2008; 19(2): 10–4

51.

Harding D. Impact of common genetic variation on neonatal disease and outcome. Arch Dis Child Fetal Neonatal Ed 2007 Sep; 92(5): F408–13PubMedCrossRef

52.

Hauser J, Knapman A, Zurcher NR, et al. Effects of prenatal dexamethasone treatment on physical growth, pituitary-adrenal hormones, and performance of motor, motivational, and cognitive tasks in juvenile and adolescent common marmoset monkeys. Endocrinology 2008 Dec; 149(12): 6343–55PubMedCrossRef

53.

Weldon D. The effects of corticosteroids on bone growth and bone density. Ann Allergy Asthma Immunol 2009 Jul; 103(1): 3–11; quiz 11–3, 50PubMedCrossRef

54.

Rose K. Challenges in pediatric drug development: a pharmaceutical industry perspective. Paediatr Drugs 2009; 11(1): 57–9PubMedCrossRef

55.

Food and Drugs Administration. Pediatric Research Equity Act of 2003 [online]. Available from URL: http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DevelopmentResources/UCM077853.pdf [Accessed 2010 Apr 10]

56.

European Commission. Medicines for children [online]. Available from URL: http://ec.europa.eu/health/human-use/paediatric-medicines/index_en.htm [Accessed 2010 Nov 19]

57.

Saint-Raymond A, Seigneuret N. The European paediatric initiative: 1 year of experience. Paediatr Drugs 2009; 11(1): 9–10PubMedCrossRef

58.

Prasad S, Harpin V, Poole L, et al. A multi-centre, randomised, open-label study of atomoxetine compared with standard current therapy in UK children and adolescents with attention-deficit/hyperactivity disorder (ADHD). Curr Med Res Opin 2007 Feb; 23(2): 379–94PubMedCrossRef

59.

De Civita M, Regier D, Alamgir AH, et al. Evaluating health-related quality-of-life studies in paediatric populations: some conceptual, methodological and developmental considerations and recent applications. Pharmacoeconomics 2005; 23: 659–85PubMedCrossRef

60.

Jones S, James E, Prasad S. Understanding rare disease in children: lessons from the LSD Registries [abstract]. Clin Ther 2010; 32Suppl. B: S76

61.

Cystic Fibrosis Foundation. Patient registry: annual data report 2006. Bethesda (MD) [online]. Available from URL: http://www.cff.org/UploadedFiles/research/ClinicalResearch/2006%20Patient%20Registry%20Report.pdf [Accessed 2010 Nov 22]

62.

Routine neonatal screening for phenylketonuria in the United Kingdom 1964–78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register. Br Med J (Clin Res Ed) 1981 May 23; 282(6277): 1680–4

63.

Thillemann TM, Pedersen AB, Johnsen SP, et al. Implant survival after primary total hip arthroplasty due to childhood hip disorders: results from the Danish Hip Arthroplasty Registry. Acta Orthop 2008 Dec; 79(6): 769–76PubMedCrossRef

64.

Smith I, Beasley MG, Wolff OH, et al. Behavior disturbance in 8-year-old children with early treated phenylketonuria. Report from the MRC/DHSS Phenylketonuria Register. J Pediatr 1988 Mar; 112(3): 403–8PubMedCrossRef

65.

Smith I, Beasley M. Intelligence and behaviour in children with early treated phenylketonuria: a report from the MRC/DHSS phenylketonuria register. Eur J Clin Nutr 1989; 43Suppl. 1: 1–5PubMed

66.

Gupta N, Bostrom AG, Kirschner BS, et al. Presentation and disease course in early-compared to later-onset pediatric Crohn’s disease. Am J Gastroenterol 2008 Aug; 103(8): 2092–8PubMedCrossRef

67.

Warady BA, Chadha V. Chronic kidney disease in children: the global perspective. Pediatr Nephrol 2007 Dec; 22(12): 1999–2009PubMedCrossRef

68.

NHS Education for Scotland. Pregnancy and the first month of life (chapter 4) [online]. Available from URL: http://www.nes.scot.nhs.uk/pharmacy/paediatrics/Book%20chapters/Chapter%204.pdf [Accessed 2010 Sep 22]

69.

Battino D, Tomson T. Management of epilepsy during pregnancy. Drugs 2007; 67(18): 2727–46PubMedCrossRef

70.

Lindberg C, Hammarén E, van der Ploeg A. Pregnancy outcome in a Pompe disease patient treated with enzyme replacement therapy. Steps Forward in Pompe Disease 3rd Annual Symposium; 2009 Nov 20–21; Munich

71.

Morrow J, Russell A, Guthrie E, et al. Malformation risks of antiepileptic drugs in pregnancy: a prospective study from the UK Epilepsy and Pregnancy Register. J Neurol Neurosurg Psychiatry 2006 Feb; 77(2): 193–8PubMedCrossRef

72.

Genzyme Corporation. Pompe lactation sub-registry [ClinicalTrials.gov identifier NCT00566878]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00566878?term=pompe+registry&rank=2 [Accessed 2010 Aug 18]

73.

Genzyme Corporation. Pompe pregnancy sub-registry [ClinicalTrials.gov identifier NCT00567073]. US National Institutes of Health, ClinicalTrials. gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00567073?term=pompe+registry&rank=3 [Accessed 2010 Aug 18]

74.

Genzyme Corporation. Fabry disease registry [ClinicalTrials.gov identifier NCT00196742]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00196742?term=fabry+registry&rank=1 [Accessed 18 Aug 2010]

75.

Genzyme Corporation. Fabry Registry [online]. Available from URL: http://www.fabryregistry.com [Accessed 2010 Nov 21]

76.

Shire Human Genetic Therapies. Fabry Outcome Survey [online]. Available from URL: http://www.fos-tkt5s.com/ [Accessed 2010 Nov 21]

77.

Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 2004 May; 144Suppl. 5: S3–14PubMed

78.

Food and Drug Administration. Fabrazyme approval letter 4/24/03 [online]. Available from URL: http://www.fda.gov/Drugs/DevelopmentApprovalProcess/HowDrugsareDevelopedandApproved/ApprovalApplications/TherapeuticBiologicApplications/ucm128159.htm [Accessed 2010 Nov 20]

79.

Genzyme Corporation. International Collaborative Gaucher Group (ICGG) Gaucher registry [ClinicalTrials.gov identifier NCT00358943]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00358943?term=ICGG+registry&rank=1 [Accessed 2010 Aug 18]

80.

Genzyme Corporation. Pompe disease registry [ClinicalTrials.gov identifier NCT00231400]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00231400?term=pompe+registry&rank=1 [Accessed 2010 Aug 18]

81.

Genzyme Corporation. Mucopolysaccharidosis I (MPS I) Registry [Clinical Trials.gov identifier NCT00144794]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00144794?term=mps+registry&rank=1 [Accessed 2010 Aug 18]

82.

BioMarin Pharmaceutical. Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) [ClinicalTrials.gov identifier NCT00214773]. US National Institutes of Health, ClinicalTrials.gov [online]. Available from URL: http://www.clinicaltrials.gov/ct2/show/NCT00214773?term=NCT00214773&rank=1 [Accessed 2010 Aug 18]

83.

NPC Registry [online]. Available from URL: http://www.npcregistry.com/Info.htm [Accessed 2010 Nov 19]

84.

Hughes DA, Ramaswami U, Barba Romero MA, et al. Age adjusting severity scores for Anderson-Fabry disease. Mol Genet Metab 2010 Oct–Nov; 101(2-3): 219–27PubMedCrossRef

85.

Hendriksz C, Valayannopoulos V, Teles E, et al. The first report of the MPS VI (Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome) Clinical Surveillance Program (CSP). 59th Annual Meeting of The American Society of Human Genetics; 2009 Oct 24; Honolulu [online]. Available from URL: http://www.ashg.org/2009meeting/abstracts/fulltext/f10449.htm [Accessed 2010 Nov 11]

86.

Kaplan P, Andersson HC, Kacena KA, et al. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006 Jun; 160(6): 603–8PubMedCrossRef

87.

Mistry PK, Deegan P, Vellodi A, et al. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol 2009 Nov; 147(4): 561–70PubMedCrossRef

88.

Mehta A, West ML, Pintos-Morrell G, et al. Therapeutic goals in the treatment of Fabry disease. Gen Med 2010; 12(11): 713–20CrossRef

89.

Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet 2009 Aug; 46(8): 548–52PubMedCrossRef

90.

Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004 Mar; 34(3): 236–42PubMedCrossRef

91.

Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006 Jan; 95(1): 86–92PubMedCrossRef

92.

Hoffmann B, Beck M, Sunder-Plassmann G, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy: a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 2007 Jul–Aug; 23(6): 535–42PubMedCrossRef

93.

Hoffmann B, Garcia de Lorenzo A, Mehta A, et al. Effects of enzyme replacement therapy on pain and health-related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005 Mar; 42(3): 247–52PubMedCrossRef

94.

Hajioff D, Hegemann S, Conti G, et al. Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 2006 Sep; 36(9): 663–7PubMedCrossRef

95.

Schwarting A, Dehout F, Feriozzi S, et al. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 2006 Aug; 66(2): 77–84PubMed

96.

Bodamer O, Al Sannaa N, Beck M, et al. Clinical characteristics of patients in the MPS I Registry [abstract no. A-084-0004-00137]. 10th International Symposium on Mucopolysaccharide and Related Diseases; 2008 Jun 26–29; Vancouver (BC)

97.

Guffon N, Clarke J. Treatment trends in MPS I: the MPS I Registry [abstract no. A-084-0004-00099]. 10th International Symposium on Mucopolysaccharide and Related Diseases; 2008 Jun 26–29; Vancouver (BC)

98.

Wraith E, Whitley C, Al Sannaa N, et al. MPS I Registry: baseline description of 10 years of experience with haematological stem cell transplantations (HSCT) in MPS 1. 33rd Annual EBMT Meeting; 2007 Mar 25–28; Lyon

99.

Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008 Feb; 121(2): e377–86PubMedCrossRef

100.

Burton BK, Guffon N, Roberts J, et al. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II-data from the Hunter Outcome Survey. Mol Genet Metab 2010 Oct–Nov; 101(2-3): 123–9PubMedCrossRef

101.

Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007 Aug; 120(2): 405–18PubMedCrossRef

102.

Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid-glucosidase (acid maltase) deficiency. In: Scriver CR, Sly WS, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001: 3389–420

103.

Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006 May; 148(5): 671–6PubMedCrossRef

104.

Levine JC, Kishnani PS, Chen YT, et al. Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. Pediatr Cardiol 2008 Nov; 29(6): 1033–42PubMedCrossRef

105.

Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009 Mar; 11(3): 210–9PubMedCrossRef

106.

Klinge L, Straub V, Neudorf U, et al. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuro-pediatrics 2005 Feb; 36(1): 6–11

107.

Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005 Jan; 15(1): 24–31PubMedCrossRef

108.

van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe disease. N Engl J Med 2010; 362(15): 1396–406PubMedCrossRef

109.

Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007 Jan 9; 68(2): 99–109PubMedCrossRef

110.

Genzyme Corporation. Pompe Registry [online]. Available from URL: http://www.pomperegistry.com [Accessed 2010 Nov 21]

111.

Annane D, Byrne BJ, Case LE, et al. Clinical signs and symptoms of Pompe disease in 143 infantile-onset and 424 late-onset patients: a report from the Pompe Registry [abstract]. Clin Ther 2010; 32Suppl. B: S71

112.

Hwu WL, Yang C-C, Churchyard A, et al. Tracking Pompe disease symptoms in a broad patient population through the Pompe Registry: a comparison between patients in the Asia-Pacific region and the rest of the world [abstract]. Clin Ther 2010; 32Suppl. B: S75

113.

Merlini L, Kishnani P, Byrne B, et al. The Pompe registry: centralized data collection to track the natural course of Pompe disease [abstract]. Clin Ther 2008; 30Suppl. 1: S24CrossRef

114.

Kishnani P, Annane D, Byrne BJ, et al. Diagnosis of Pompe disease: timing and methods used as reported to the Pompe Registry [abstract]. Clin Ther 2010; 32Suppl. B: S78

115.

Prasad S, Byrne B, Case LE, et al. The heterogeneity of Pompe disease: early data from the Pompe Registry. American Society for Human Genetics 60th Annual Meeting; 2010 Nov 2–6; Washington, DC

116.

Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010; 5: 16–33PubMedCrossRef

117.

European Medicines Agency, Committee for Orphan Medicinal Products. Public summary of positive opinion for orphan designation of miglustat for the treatment of Niemann-Pick disease, type C. Dec. ref. EMEA/COMP/25188/2006 Rev. 1,17 November 2009 [online]. Available from URL: http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2009/10/WC500006379.pdf [Accessed 2010 Nov 11]

118.

Nunn T. The National Institute for Health Research Medicines for Children Research Network. Paediatr Drugs 2009; 11(1): 14–5PubMedCrossRef

119.

Gazarian M. Delivering better medicines to children: need for better integration between the science, the policy, and the practice. Paediatr Drugs 2009; 11(1): 41–4PubMedCrossRef

120.

Knoppert DC. Pediatric formulations: international issues and potential solutions. Paediatr Drugs 2009; 11(1): 55–6PubMedCrossRef

121.

Hoppu K. Non-interventional studies as a basis for approval of drugs for children [abstract no. L21]. Paediatr Perinat Drug Ther 2004; 6: 51

122.

Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 2004 Jan; 144(1): 112–20PubMedCrossRef

Title: Disease Registries and Outcomes Research in Children
Focus on Lysosomal Storage Disorders
Authors: Simon Jones
Emma James
Dr Suyash Prasad
Publication date: 01-02-2011
Publisher: Springer International Publishing
Published in: Pediatric Drugs / Issue 1/2011
Print ISSN: 1174-5878
Electronic ISSN: 1179-2019
DOI: https://doi.org/10.2165/11586860-000000000-00000

2024 ASCO Annual Meeting

Springer Medicine

Disease Registries and Outcomes Research in Children

Focus on Lysosomal Storage Disorders

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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Other articles of this Issue 1/2011

Pediatric Asthma Controller Therapy

Pharmacologic Management of Acutely Agitated Pediatric Patients

Pharmacologic Considerations for Oseltamivir Disposition

Calcineurin Inhibitor-Free Immunosuppression in Pediatric Renal Transplantation