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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucopolysaccharidosis type I


Other Names for this Disease
  • MPS 1
  • Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)
  • Severe MPS I (subtype, also known as Hurler syndrome)
  • Hurler syndrome (subtype)
  • Hurler-Scheie syndrome (subtype)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might mucopolysaccharidosis I be treated?

Management of mucopolysaccharidosis I (MPS I) requires a multidisciplinary team given the wide range of symptoms. This team may include: primary care; cardiology; pulmonology; gastroenterology; neurology; ear, nose, and throat specialists; audiology; ophthalmology; orthopedics; physical therapy; dental; and developmental specialists.[1]

The two main treatment options for MPS I include hematopoietic stem cell transplant (HSCT) and enzyme replacement therapy (ERT). Both of these treatments work by replacing the missing IDUA enzyme (alpha-L-iduronidase).[2]

HSCT is considered standard of care for individuals with severe MPS I; however, its success is dependent on timing of treatment. It is typically recommended that HSCT occur early in the disease process, prior to two years of age. Studies have shown that when successful, HSCT can improve facial, auditory, and cardiac manifestations. The effect on intellectual development is unclear with some studies suggesting an improvement, while others report a slowing of cognitive decline.[1][2]
 
A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier.[1][2]

Last updated: 5/23/2016

References
  1. Joseph Muenzer, James E. Wraith, Lorne A. Clarke. Mucopolysaccharidosis I: Management and Treatment Guidelines. Pediatrics. January 2009; 123(1):http://www.ncbi.nlm.nih.gov/pubmed/19117856. Accessed 5/23/2016.
  2. Clarke LA, Heppner J. Mucopolysaccharidosis Type I. GeneReviews. February 11, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1162/.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Mucopolysaccharidosis type I. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The Orphan Disease Center: MPS I Pilot Grant Program presents a request for applications (RFA) to support research on the development of improved therapies for people with syndromes due to MPS I including Hurler, Hurler-Scheie and Scheie. All individuals holding a faculty-level appointment at an academic or non-profit institution are eligible to respond to this RFA. Grants will be awarded for an initial period of 1 to 2 years at $150,000 direct costs per year (up to 10% indirect costs allowable); funding for a second year is predicated by adequate progress during year 1 and availability of funding. All applicants must first submit a letter of Interest (LOI) to be reviewed for consideration of a full application submission. LOIs are due no later than Monday, February 29, 2016 at 5pm (EST).

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name laronidase
Trade Name
(Manufacturer Name)
Aldurazyme®
(BioMarin Pharmaceutical, Inc.)
Indication
The FDA has approved this product to be used in this manner.
Treatment for patients with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I) and for patients with the Scheie form who have moderate to severe symptoms
More Information about this product Drug Information Portal

Other Names for this Disease
  • MPS 1
  • Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)
  • Severe MPS I (subtype, also known as Hurler syndrome)
  • Hurler syndrome (subtype)
  • Hurler-Scheie syndrome (subtype)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.