A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Genetics in Medicine

Volumn 18, Issue 1, 2016, Pages 73-81

  Muenzer, Joseph ^a   Hendriksz, Christian J ^b   Fan, Zheng ^a   Vijayaraghavan, Suresh ^b   Perry, Victor ^a   Santra, Saikat ^b   Solanki, Guirish A ^b   Mascelli, Mary Ann ^c   Pan, Luying ^c   Wang, Nan ^c   Sciarappa, Kenneth ^c   Barbier, Ann J ^c  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c SHIRE   (United States)

Author keywords

enzyme replacement therapy; idursulfase; intrathecal; mucopolysaccharidosis II; pediatric

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; NEUTRALIZING ANTIBODY;

ADOLESCENT; ADULT; ANTIBODY BLOOD LEVEL; ANTIBODY TITER; ANXIETY DISORDER; AREA UNDER THE CURVE; ARTICLE; ASYMPTOMATIC DISEASE; BEHAVIOR CHANGE; BLOOD PRESSURE; CEREBROSPINAL FLUID LEUKOCYTOSIS; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DEVICE BREAKAGE; DEVICE DISLOCATION; DEVICE FAILURE; DEVICE MALFUNCTION; DEVICE REMOVAL; DISEASE SEVERITY; DRUG BIOAVAILABILITY; DRUG BLOOD LEVEL; DRUG DOSE ESCALATION; DRUG SAFETY; ERYTHEMA; EXTRAPYRAMIDAL SYNDROME; FEVER; HEART RATE; HUMAN; HUNTER SYNDROME; IMMUNOGENICITY; IMPLANT SITE INFECTION; IMPLANTABLE PORT SYSTEM; INFUSION RELATED REACTION; LEUKOCYTOSIS; LIMIT OF QUANTITATION; LUMBAR PUNCTURE; MALE; MAXIMUM PLASMA CONCENTRATION; MEDICAL DEVICE COMPLICATION; NAUSEA; OPEN STUDY; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PLASMA CONCENTRATION-TIME CURVE; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN URINE LEVEL; RANDOMIZED CONTROLLED TRIAL; RISK ASSESSMENT; TREATMENT DURATION; UNSPECIFIED SIDE EFFECT; VOMITING; BLOOD; CEREBROSPINAL FLUID; CLINICAL TRIAL; ENZYME REPLACEMENT; FEMALE; INTRASPINAL DRUG ADMINISTRATION; METABOLISM; MUCOPOLYSACCHARIDOSIS II; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOSAMINOGLYCANS; HUMANS; IDURONATE SULFATASE; INJECTIONS, SPINAL; MALE; MUCOPOLYSACCHARIDOSIS II;

EID: 84954341717     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.36     Document Type: Article

References (20)

1. Bach G, Eisenberg F Jr, Cantz M, Neufeld EF. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA 1973; 70: 2134-2138
2. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, vol. III. McGraw-Hill: New York, 2001: 3421-3452
3. Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008; 121: e377-e386
4. Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter?s syndrome. 2. Differences between the mild and severe forms. J Med Genet 1982; 19: 408-411
5. Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8: 465-473
6. Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011; 13: 95-101
7. Muenzer J, Bodamer O, Burton B, et al. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr 2012; 171: 181-188
8. Calias P, Papisov M, Pan J, et al. CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder. PLoS One 2012; 7: e30341
9. Papisov MI, Belov VV, Gannon KS. Physiology of the intrathecal bolus: the leptomeningeal route for macromolecule and particle delivery to CNS. Mol Pharm 2013; 10: 1522-1532
10. Elliott CD. Differential Ability Scales-Second Edition (DAS-II®), 2nd edn. Harcourt Assessment: San Antonio, TX, 2007
11. Bayley N. Bayley Scales of Infant and Toddler Development (Bayley-III®), 3rd edn. Pearson: San Antonio, TX, 2005
12. Matts JP, Lachin JM. Properties of permuted-block randomization in clinical trials. Control Clin Trials 1988; 9: 327-344
13. The National Cancer Institute. Common Terminology Criteria for Adverse Events Version 4.0. http://evs.nci.nih.gov/ftp1/CTCAE/About.html. Accessed 15 January 2014
14. Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA. The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. Mol Genet Metab 2013; 110: 303-310
15. Laterra J, Keep R, Betz LA, Goldstein GW. Blood-brain-cerebrospinal fluid barriers. In: Siegel GJ, Agranoff BW, Albers RW, Fisher SK, Uhler MD (eds). Basic Neurochemistry: Molecular, Cellular, and Medical Aspects, 6th edn. Lippincott Williams, & Wilkins: Philadelphia, PA, 1999: 671-689
16. Bielicki J, Freeman C, Clements PR, Hopwood JJ. Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. Biochem J 1990; 271: 75-86
17. Bax MC, Colville GA. Behaviour in mucopolysaccharide disorders. Arch Dis Child 1995; 73: 77-81
18. Holt J, Poe MD, Escolar ML. Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J Pediatr 2011; 159: 320-326.e2
19. Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124: e1228-e1239
20. Reiber H. Flow rate of cerebrospinal fluid (CSF) - A concept common to normal blood-CSF barrier function and to dysfunction in neurological diseases. J Neurol Sci 1994; 122: 189-203