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Hematopoietic Stem Cell Transplantation (HSCT)

Unlike palliative therapies, allogeneic hematopoietic stem cell transplantation (HSCT) using bone marrow transplantation (BMT) or cord blood addresses the enzyme deficiency underlying MPS VI. Unfortunately, difficulties with tissue matching and high mortality rates mean that HSCT is an option for only a few patients. But for those patients who do undergo the procedure and achieve engraftment, the benefits can sometimes be significant.

Donor-derived, enzyme-producing macrophages may directly assist in reducing the patient's excess GAG burden. In addition, some researchers speculate that enzyme is transferred laterally from donor cells to the lysosomes of host cells—for example, hepatocytes—further facilitating GAG reduction.1

Experience with HSCT in MPS VI is limited. Reports from more than 100 transplants in patients with a variety of MPS types (primarily MPS I) suggest that HSCT may provide a range of benefits depending on the particular case, including:

  • Normalization of urinary GAG levels2,3
  • Improved facial dysmorphism2,3
  • Reduced organomegaly2,3
  • Reduced corneal clouding, leading to improved vision2
  • Improved pulmonary function and halted progression of upper airway obstruction4
  • Cessation of sleep apnea5
  • Improved cardiac function, with normalization of left ventricular hypertrophy5
  • Reduced middle ear effusion3
  • Improved range of motion in joints3,5
  • Improved mobility3

Clinical Limitations of HSCT

BMT is not universally available because of a lack of suitable donors, and it is associated with substantial morbidity and mortality. The European Group for Bone Marrow Transplantation reported a transplant-related mortality of 10% (histocompatibility leukocyte antigen [HLA] identical) to 20-25% (HLA mismatched) for 63 transplantation cases in patients with LSDs.6 A recent report by Staba et al suggests that cord blood stem cells from unrelated donors can be successfully transplanted into patients with Hurler syndrome (MPS IH).7 Further studies will be required to determine the long-term effects of this procedure in patients with Hurler syndrome and potential benefits of cord blood transplantation for patients with MPS VI. In lieu of BMT and cord blood transplantation, most patients receive only treatment directed toward specific, progressive symptomatic problems.

  1. Resnick JM, Krivit W, Snover DC, et al. Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation. Bone Marrow Transplant. 1992;10:273-280.
  2. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452.
  3. Lee V, Li CK, Shing MM, et al. Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Bone Marrow Transplant. 2000;26:455-458.
  4. Fletcher J, Pamula Y, Martin AJ. Reversing respiratory disease in MPS: lessons from bone marrow transplantation. Poster accessed at www.chempathadelaide.com.au.
  5. McGovern MM, Ludman MD, Short MP, et al. Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser. 1986;22:41-53.
  6. Hoogerbrugge PM, Brouwer OF, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet. 1995;345:1398-1402.
  7. Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004;350:1960-1969.
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