Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I

American Journal of Medical Genetics, Part A

Volumn 173, Issue 3, 2017, Pages 780-783

  Nestrasil, Igor ^a   Shapiro, Elsa ^a   Svatkova, Alena ^a,b   Dickson, Patricia ^c   Chen, Agnes ^c   Wakumoto, Amy ^a   Ahmed, Alia ^a   Stehel, Edward ^d   McNeil, Sarah ^d   Gravance, Curtis ^e   Maher, Elizabeth ^d  

^a UNIVERSITY OF MINNESOTA   (United States)

^b MASARYK UNIVERSITY   (Czech Republic)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e Ryan Foundation   (United States)

Author keywords

blood brain barrier; brain; diffusion tensor imaging; enzyme replacement therapy; intrathecal administration; magnetic resonance imaging; mucopolysaccharidosis; neuropsychology

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL EVALUATION; COGNITIVE DEFECT; DIFFUSION TENSOR IMAGING; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME REPLACEMENT; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; MALE; MISSENSE MUTATION; MUSCULOSKELETAL STIFFNESS; NEUROANATOMY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT MONITORING; PATIENT SAFETY; YOUNG ADULT; ADVERSE EFFECTS; COGNITIVE DYSFUNCTION; DRUG EFFECTS; INTRASPINAL DRUG ADMINISTRATION; MUCOPOLYSACCHARIDOSIS I; PATHOLOGY; PHENOTYPE; PROCEDURES; PSYCHOLOGY; TREATMENT OUTCOME; WHITE MATTER;

LEVO IDURONIDASE;

COGNITIVE DYSFUNCTION; ENZYME REPLACEMENT THERAPY; HUMANS; IDURONIDASE; INJECTIONS, SPINAL; MAGNETIC RESONANCE IMAGING; MALE; MUCOPOLYSACCHARIDOSIS I; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; TREATMENT OUTCOME; WHITE MATTER; YOUNG ADULT;

EID: 85013220493     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38073     Document Type: Article

References (15)

1. Alexander AL, Lee JE, Lazar M, Field AS. 2007. Diffusion tensor imaging of the brain. Neurotherapeutics 4:316–329.
2. Dickson PI, Chen AH. 2011. Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: Translating success in animal models to patients. Curr Pharm Biotechnol 12:946–955.
3. Dierenfeld AD, McEntee MF, Vogler CA, Vite CH, Chen AH, Passage M, Le S, Shah S, Jens JK, Snella EM, Kline KL, Parkes JD, Ware WA, Moran LE, Fales-Williams AJ, Wengert JA, Whitley RD, Betts DM, Boal AM, Riedesel EA, Gross W, Ellinwood NM, Dickson PI. 2010. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med 2:60ra89.
4. Felice BR, Wright TL, Boyd RB, Butt MT, Pfeifer RW, Pan J, Ruiz JA, Heartlein MW, Calias P. 2011. Safety evaluation of chronic intrathecal administration of idursulfase-IT in cynomolgus monkeys. Toxicol Pathol 39:879–892.
5. Good CD, Johnsrude IS, Ashburner J, Henson RN, Friston KJ, Frackowiak RS. 2001. A voxel-based morphometric study of ageing in 465 normal adult human brains. Neuroimage 14:21–36.
6. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF. 2001. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344:182–188.
7. Liu RSN, Lemieux L, Bell GS, Sisodiya SM, Shorvon SD, Sander JWAS, Duncan JS. 2003. A longitudinal study of brain morphometrics using quantitative magnetic resonance imaging and difference image analysis. Neuroimage 20:22–33.
8. Muenzer J, Wraith JE, Clarke LA. 2009. International consensus panel on management and treatment of mucopolysaccharidosis I. Pediatrics 123:19–29.
9. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, Henslee-Downey J, Trigg ME, Cowan MJ, Sanders J, Bunin N, Weinstein H, Lenarsky C, Falk P, Harris R, Bowen T, Williams TE, Grayson GH, Warkentin P, Sender L, Cool VA, Crittenden M, Packman S, Kaplan P, Lockman LA, Anderson J, Krivit W, Dusenbery K, Wagner J. 1996. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87:4894–4902.
10. Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. 2015. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab 116:61–68.
11. Tisserand DJ, Visser PJ, Van Boxtel MPJ, Jolles J. 2000. The relation between global and limbic brain volumes on MRI and cognitive performance in healthy individuals across the age range. Neurobiol Aging 21:569–576.
12. Van Petten C. 2004. Relationship between hippocampal volume and memory ability in healthy individuals across the lifespan: Review and meta-analysis. Neuropsychologia 42:1394–1413.
13. Vite CH, Nestrasil I, Mlikotic A, Jens JK, Snella EM, Gross W, Shapiro EG, Kovac V, Provenzale JM, Chen S, Le SQ, Kan S, Banakar S, Wanng RY, Haskins ME, Ellinwood NM, Dickson PI. 2013. Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. Comp Med 63:163–173.
14. Yap QJ, Teh I, Fusar-Poli P, Sum MY, Kuswanto C, Sim K. 2013. Tracking cerebral white matter changes across the lifespan: Insights from diffusion tensor imaging studies. J Neural Transm 120:1369–1395.
15. Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. 2015. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab 114:170–177.