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International Health - Centers of Excellence: Genetic Disease Center

Overview

The Washington University Genetic Disease Center at St. Louis Children's Hospital offers a coordinated approach to the diagnosis and treatment of patients with rare conditions caused by lysosomal storage diseases. Pediatric subspecialists working with the Genetic Disease Center include cardiologists, nephrologists, neurologists, neurosurgeons, ophthalmologists and orthopedic surgeons.

Best Candidates

Lysosomal storage diseases, a group of genetic disorders, result from a deficiency of lysosomal enzymes that normally degrade glycoproteins, glycolipids or mucopolysaccharides (MPS).

Common lysosomal storage diseases include Gaucher's disease, Hunter syndrome, Hurler syndrome (MPS1) and Pompe disease. Some lysosomal storage diseases, such as Fabry disease, do not show many symptoms until adulthood, when patients develop kidney failure or stroke.

However, most of the diseases begin showing signs in early childhood, often within the first year or two of life. Some children with these diseases are short in stature, develop coarse facial features, have significant restriction of joint movement, may develop mental retardation and acquire severe lung disease. Others may present with very weak muscles and heart disease; some have severe limb or bone pain. Many of the lysosomal storage diseases are so devastating they cause death before the age of 10.

Specialized Procedures

Enzyme replacement therapy (ERT) – is available for Gaucher disease, Hurler syndrome, (MPS!) and Fabry disease. Although ERT can be effective, it has its drawbacks. The manufactured enzyme must be given by intravenous infusion over several hours every one to two weeks. The drug costs can be expensive.

However, the Center can assist you in arrangements with manufacturers, many of whom are able to provide their product at a reduced cost or no cost through alliances with humanitarian groups or the legislative commitments of various governments. Another drawback is the manufactured enzyme cannot penetrate the brain, which means ERT will not treat the possible mental retardation associated with some forms of the diseases.

Bone marrow or stem cell transplantation – can influence the effects of these diseases on the brain and either prevent or reduce the risk of severe mental retardation.

Gene therapy – is another possible treatment for the future. The Genetic Disease Center anticipates beginning a gene therapy trial for a lysosomal disease currently known as MPS VII within the next few years. This trial will be a collaborative effort of Drs. Martin, Hayashi, Sands and other research professionals. If successful, this gene therapy trial will open the door to gene therapy for all lysosomal storage diseases.

Visit Lysosomal Storage Disease (LSD) for more information.

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Copyright 2013 Washington University School of Medicine
Copyright 2013 Washington University School of Medicine