• Overview
• Inheritance
• Symptoms
  • Growth, Bones and Joints
  • Brain and Nerves
  • Physical Appearance
  • Ear, Nose, Throat and Chest
  • Heart
  • Liver, Spleen and Abdomen
  • Eyes
• Testing
• Treatment
• Resources
• Aldurazyme Update

Treatment

Enzyme Replacement Therapy
The treatment of Hurler syndrome involves replacing the missing or lacking alpha-L-iduronidase enzyme with a similar chemical called Aldurazyme®, which can enter the lysosomes to break down GAGs. This medication received FDA approval in April, 2003 and is available by prescription.

Aldurazyme® is given by intravenous infusion every week and is expected to be done for a person's entire life. Infusions are performed in a hospital setting. Aldurazyme® can be taken even if a person is also taking other medications. Some patients may experience minor side effects, such as discomfort or bruising at the infusion site. Other possible side effects include rash or upper respiratory infection. Rare instances of allergic reaction have been reported and require emergency intervention.

Bone marrow transplantation (BMT)
There has been some success in treating Hurler syndrome with bone marrow transplantation (replacement of the bone marrow, a spongy material that produces blood cells and is found inside of the bones). The bone marrow for the procedure comes from a matched donor, who may be a relative of the patient or someone unrelated to the patient. After BMT, many patients have experienced improvement or reversal of some of their symptoms, as well as an increased lifespan. The best results are seen when BMT is performed in infancy. BMT does not completely reverse the symptoms of Hurler syndrome. Intellectual function, as well as symptoms of the bones and eyes, may show little or no improvement. BMT also carries significant risks of infection and other serious complications.

At UCSF, BMT for Hurler syndrome is performed by a team of specialists in the Pediatric Bone Marrow Transplantation Program. Patients with Hurler syndrome who are candidates for BMT are referred by the Lysosomal Disease Center to the Program for discussion and transplant-related care.

Although Aldurazyme® is now FDA-approved, the Center continues to participate in an international clinical treatment trial to determine patients' response to the treatment. This trial is currently closed to enrollment.

If you have any questions about Aldurazyme® treatment, or if you would like to receive a Genzyme publication on Aldurazyme®, please contact Cindy Morgan, MS (1-866-476-9997).