Management Approaches

Early multidisciplinary management is the best approach to slow the progression of MPS I

MPS I is a chronic, progressive, multisystemic disease. The key factors that should be considered when managing MPS I are1,2:

  • Initiating management early
  • Carefully monitoring multiple organ systems
  • Individualizing management (i.e., specific genetic variant and presentation of MPS I)
  • Other potential resources that may be available for your patients here

Shannae, living with MPS I

A girl diagnosed with MPS 1 disease

Treatments for MPS I may include the following:

Hematopoietic stem cell transplantation (HSCT)1,3

The clinical success of HSCT depends on the age of the child at transplantation, the degree of clinical involvement, the child’s cardiopulmonary status and neurologic development, the type of donor, and the ability to achieve stable engraftment without the development of graft-versus-host disease.

  • HSCT is considered for children with severe MPS I under certain conditions
  • When successful, HSCT can prevent or reverse many but not all of the clinical features of severe MPS I, including:
    • Improve lifespan
    • Improve hearing and growth
    • Improve respiratory symptoms
    • Improve certain cardiac manifestations, e.g., heart failure and tachyarrhythmia, but cardiac valvular deformities may not be improved
    • Improvement in cognitive outcomes is greatly influenced by the degree of cognitive impairment at the time of transplantation
    • Reduce facial coarseness and hepatosplenomegaly
    • Reduce urinary GAG levels
    • Stabilize or prevent hydrocephalus
    • HSCT has less effects on skeletal diseases, joint manifestations, and corneal clouding
  • In rare cases, HSCT may be considered for attenuated MPS I
  • Bone marrow and umbilical cord blood are used most often as sources of stem cells

Supportive care and treatment of complications4

This type of treatment helps in the management of symptoms. Examples of supportive care include:

  • Supplemental oxygen for breathing difficulties
  • Continuous positive airway pressure machines for interrupted breathing during sleep (sleep apnea)
  • Surgery (e.g., tracheostomy) for difficulties in breathing
  • Physical therapy for joint stiffness
  • Heart valve replacement therapy for heart problems

GAGs, glycosaminoglycans; MPS, mucopolysaccharidosis

References: 1. Taylor M, Khan S, Stapleton M, et al. Biol Blood Marrow Transplant. 2019;25(7):e226-e246. 2. Beck M, Arn P, Giugliani R, et al. Genet Med. 2014;16(10):759-765. 3. Clarke LA. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Accessed March 21, 2022. 4. Nan H, Park C, Maeng S. Biomed Res Int. 2020;2020:2408402.

MAT-US-2205120-v1.0-10/2022 Last Updated: October 2022