The first step in our care is diagnosis, which typically includes laboratory testing. While there is no cure for any of the MPS or ML disorders, we will work with your family to create a treatment plan that addresses the symptoms of the disorder. Various treatment methods may be recommended, depending on the specific diagnosis, including:
Enzyme Replacement Therapy
Enzyme replacement therapy (ERT) is the infusion of man-made enzymes into patients who have specific enzyme deficiencies. 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 address 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, 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 Morquio syndrome (MPS IV). The program is staffed by a geneticist, orthopaedic surgeon, neurosurgeon, 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) 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. The stem cell unit at Lurie Children’s 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.
Our physicians are investigators in a number of clinical trials of new investigational treatments for the MPS disorders. Depending on the specific diagnosis, these clinical trials may involve delivering enzyme replacement therapy into the central nervous system, gene therapy or the use of innovative drugs with the goal of improving the outcome.