Enzyme Replacement Therapy
Enzyme replacement therapy (ERT) has been an exciting new development in the treatment of MPS disorders. ERT is the infusion of man-made enzymes into patients in which a specific enzyme is missing or deficient. The goal of ERT is to ease the symptoms of MPS and to treat the underlying enzyme deficiency directly by stopping or slowing the progression of the disorder. ERT does not relieve the problems that may exist in the central nervous system because it does not cross the blood brain barrier (a membrane that serves as a gatekeeper to prevent substances from entering the brain and/or spinal cord). However in many cases, function of other organs and mobility can be improved.
Skeletal Dysplasia Program
Our skeletal dysplasia program is a multidisciplinary service that provides care to patients with disorders that primarily involve the skeletal system, including patients with MPS IV. The program is staffed by a geneticist, orthopaedic surgeon, radiologist, genetic counselors and specially trained orthopedic nurses.
Stem Cell Transplantation
Patients with certain genetic disorders, including the severe form of MPS I (Hurler syndrome) and ML-II (I-cell disease) have the option of undergoing stem cell transplantation at Lurie Children's. The stem cell transplant program is one of the largest pediatric outpatient programs in the nation. Reggie Duerst, MD, leads a stem cell unit which has performed over 700 transplants in pediatric patients. The stem cell unit continues to explore new innovations in transplantation. The state-of-the-art facility allows the stem cell unit to provide all-inclusive care.