Julia's Disease: Sanfilippo Syndrome Type A
Sanfilippo Syndrome is a lysosomal storage disorder caused by a genetic abnormality. Children with Sanfilippo Syndrome lack the ability to produce an essential enzyme that helps the body break down a substance called heparan sulfate. As this substance slowly accumulates in cells, especially brain cells, normal childhood development gives way to hyperactivity, sleep disorders, loss of speech, mental retardation, dementia and finally death at 10-15 years of age.

There are four variants of Sanfilippo Syndrome, classified as types A, B, C, and D. Although clinically very similar, the four types constitute four different enzyme deficiencies. Julia has type A, considered the most common and aggressive form of the disease. Successful research into any of the four types of Sanfilippo syndrome will apply to many of 5,000 other genetic disorders.

Click here for more information about Sanfilippo Syndrome.

Julia's Dream: The Promise of Research
Enzyme Replacement Therapy
Medical science offers potential treatments for Sanfilippo, including enzyme replacement therapy (ERT) and gene therapy. ERT involves injecting enzyme into the patient to stop or even reverse the storage that causes the disease. Great strides have been made in ERT during the past few years, as scientists are now able to manufacture the enzyme Julia lacks. Currently, however, ERT is not likely to benefit children with Sanfilippo Syndrome because enzyme administered into the bloodstream is prevented from entering the brain by the Blood-Brain Barrier (BBB). Click here for information about the Blood-Brain-Barrier.

Laboratory research will never translate into successful ERT until the problem of the BBB is solved. Consequently, SSMRF encourages study of the BBB and drug delivery systems targeting the brain. More research is required to develop ways to get the missing enzyme (1) across the Blood-Brain-Barrier (BBB) and (2) into brain cells (neurons).

Gene Therapy
Gene therapy would involve inserting a corrected gene into Julia's own cells, allowing Julia's body to manufacture the missing enzyme on its own. Great progress has been seen, as scientists have identified the gene responsible for producing the enzyme Julia desperately needs. However, more research is needed to make gene therapy safe and effective. Such research is limited only by the amount of available funding.

©2003 The Sanfilippo Syndrome Medical Research Foundation, Inc. All Rights Reserved.

SSMRF supports vital research to find a cure. Click here to learn about research supported by the foundation.