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Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

  • Christina LampeEmail author
  • Andrea Atherton
  • Barbara K. Burton
  • Maria Descartes
  • Roberto Giugliani
  • Dafne D. G. Horovitz
  • Sandra O. Kyosen
  • Tatiana S. P. C. Magalhães
  • Ana Maria Martins
  • Nancy J. Mendelsohn
  • Joseph Muenzer
  • Laurie D. Smith
Research Report
Part of the JIMD Reports book series (JIMD, volume 14)

Abstract

Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and a progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety and efficacy data from clinical studies are currently only available for patients 1.4 years of age and older. Sibling case studies of infants with MPS I, II, and VI who initiated ERT in the first weeks or months of life have reported no new safety concerns and a more favorable clinical course for the sibling treated in infancy than for the later-treated sibling. Here we describe our experiences with a case series of eight MPS II patients for whom idursulfase treatment was initiated at under 1 year of age. The majority of the patients were diagnosed because of a family history of disease. All of the infants displayed abnormalities consistent with MPS II at diagnosis. The youngest age at treatment start was 10 days and the oldest was 6.5 months, with duration of treatment varying between 6 weeks and 5.5 years. No new safety concerns were observed, and none of the patients experienced an infusion-related reaction. All of the patients treated for more than 6 weeks showed improvements and/or stabilization of some somatic manifestations while on treatment. In some cases, caregivers made comparisons with other affected family members and reported that the early-treated patients experienced a less severe clinical course, although a lack of medical records for many family members precluded a rigorous comparison.

Keywords

Hematopoietic Stem Cell Transplantation Carpal Tunnel Syndrome Enzyme Replacement Therapy Pectus Excavatum Mild Hearing Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

CT

Computed tomography

ERT

Enzyme replacement therapy

GAG

Glycosaminoglycan

HSCT

Hematopoietic stem cell transplantation

I2S

Iduronate-2-sulfatase

IRR

Infusion-related reaction

IV

Intravenous

LSD

Lysosomal storage disorder

MPS

Mucopolysaccharidosis

MRI

Magnetic resonance imaging

uGAG

Urinary glycosaminoglycan

Notes

Acknowledgments

We would like to thank all the patients and families for their participation. Editorial assistance to the authors was provided by Jillian Lokere, MS, of The Curry Rockefeller Group, LLC, Tarrytown, New York, and was funded by Shire. The authors received no payment for their work, and they confirm independence from the funding source.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Christina Lampe
    • 1
    • 12
    Email author
  • Andrea Atherton
    • 2
  • Barbara K. Burton
    • 3
  • Maria Descartes
    • 4
  • Roberto Giugliani
    • 5
  • Dafne D. G. Horovitz
    • 6
  • Sandra O. Kyosen
    • 7
  • Tatiana S. P. C. Magalhães
    • 6
  • Ana Maria Martins
    • 7
  • Nancy J. Mendelsohn
    • 8
    • 9
  • Joseph Muenzer
    • 10
  • Laurie D. Smith
    • 2
    • 11
  1. 1.Villa Metabolica, Children’s HospitalUniversity of MainzMainzGermany
  2. 2.Division of Clinical GeneticsChildren’s Mercy Hospitals and ClinicsKansas CityUSA
  3. 3.Ann and Robert H. Lurie Children’s Hospital and Northwestern University Feinberg School of MedicineChicagoUSA
  4. 4.Department of GeneticsUniversity of Alabama at BirminghamBirminghamUSA
  5. 5.Department of Genetics/UFRGSMedical Genetics Service/HCPA and INAGEMPPorto AlegreBrazil
  6. 6.Instituto Nacional de Saúde da Mulherda Criança e do Adolescente Fernandes Figueira/FiocruzRio de JaneiroBrazil
  7. 7.Centro de Referência em Erros Inatos do Metabolismo, Departamento de PediatriaUniversidade Federal de São PauloSão PauloBrazil
  8. 8.Medical Genetics DepartmentChildren’s Hospitals and Clinics of MinnesotaMinneapolisUSA
  9. 9.Division of Medical Genetics, Department of PediatricsUniversity of MinnesotaMinneapolisUSA
  10. 10.Division of Genetics and Metabolism, Department of PediatricsUniversity of North Carolina at Chapel HillChapel HillUSA
  11. 11.Center of Pediatric Genomic MedicineChildren’s MercyKansas CityUSA
  12. 12.Department for Pediatric and Adolescent MedicineDr. Horst Schmidt ClinicsWiesbadenGermany

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