Genetics of Mucopolysaccharidosis Type II Medication

  • Author: Nancy E Braverman, MS, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 5, 2011
 

Medication Summary

Idursulfase, a purified form of human iduronate sulfatase (IDS) was approved by the US Food and Drug Administration (FDA) as an orphan drug in July 2006. It is distributed as Elaprase (Shire Human Genetics Therapies, Inc). FDA approval was based on the study of 96 patients in a double-blind, placebo-controlled study over one year.[32, 33] This study demonstrated improvement in a 6-minute walk test and reduction in liver and spleen volumes and urinary glycosaminoglycan (GAG) levels.

The extent to which enzyme replacement therapy (ERT) delays disease progression and whether or not it can prevent premature death is still unknown. Severely affected patients were not enrolled, and thus the benefit to them remains to be determined. ERT does not enter the CNS and has no impact on cognitive function. Thus, the role of ERT in the management of Hunter syndrome is under debate.[34]

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Class Summary

ERT is a life-long therapy that may improve the quality of life for patients with mucopolysaccharidosis type II (MPS II).

View full drug information

Idursulfase (Elaprase)

 

Purified form of human iduronate-2-sulfatase, a lysosomal enzyme. Hydrolyzes 2-sulfate esters of terminal IDS residues from the GAGs dermatan sulfate and heparan sulfate in the lysosomes of various cell types. Indicated for MPS II (Hunter syndrome) because it replaces the deficiency of iduronate-2-sulfatase in this disease. The drug is continued throughout life, and, thus, both the time and financial commitment can be extensive. Administration should be done by a health care professional in an experienced infusion center.

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Contributor Information and Disclosures
Author

Nancy E Braverman, MS, MD  Associate Professor, Department of Human Genetics, McGill University

Nancy E Braverman, MS, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Human Genetics, Society for Inherited Metabolic Disorders, and Society for the Study of Inborn Errors of Metabolism

Disclosure: Nothing to disclose.

Coauthor(s)

Cydney L Fenton, MD  Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Mary Kay Conover-Walker, MSN, PNP  Pediatric Nurse Practioner, Institute of Genetic Medicine, Johns Hopkins Hospital

Mary Kay Conover-Walker, MSN, PNP is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and Association of Clinical Research Professionals

Disclosure: Nothing to disclose.

Specialty Editor Board

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Grant/research funds PI

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors William Rogers, MD, and Vinayak Kottoor, MD, to the original writing and development of this article.

References

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