Treatment Options

Treatment for MPS I involves supportive and symptom-based treatment as well as disease-specific treatments that address the underlying cause of the disease. Supportive treatment is still important even when a patient is also receiving disease-specific treatment such as enzyme replacement therapy or bone marrow transplantation.

Supportive and symptom-based treatments

Since MPS I is a multisystemic disease, care of an MPS I patient can involve many specialists. Patients with MPS I may require supplemental oxygen, continuous positive airway pressure, or tracheostomy for breathing difficulties. Surgery may be necessary for spinal cord compression, hernia repair, carpal tunnel syndrome, or heart valve replacement. Physical therapy can help with joint stiffness.

Enzyme Replacement Therapy (ERT)

The goal of ERT is to supply enough enzyme to allow waste material to be processed. Thus, enzyme replacement therapy works by supplementing or replacing the MPS I patient’s missing or deficient enzyme. However, because intravenous enzyme does not easily cross into the brain, ERT does not currently address the neurological symptoms experienced by some MPS I patients.

Bone Marrow/Hematopoietic Stem Cell Transplantation

The goal of bone marrow or hematopoietic stem cell transplantation (BMT/HSCT) is to provide patients with cells that produce the missing enzyme through transplanted bone marrow or umbilical cord blood cells. These treatments may be an option for patients with severe MPS I.