About MPS1
You are not alone if you have never heard of MPS1. As a rare genetic disease, most people have never met an individual with MPS1 – especially since many children with MPS1 die from complications before their teenage years. A key mission of our foundation is to educate the general public about MPS1. With education comes awareness. With awareness comes an opportunity to help.
Mucopolysaccharidosis1 (MPS1) is a genetic lysosomal storage disease caused by the body’s inability to produce the enzyme alpha-L-iduronidase. Without sufficient levels of this enzyme, the body cannot break down and recycle material in cells normally. This results in a “storage” of material inside virtually every cell causing progressive damage throughout the body.
While the disease may not be apparent at birth, complications develop with age as material in the cells accumulates. Symptoms vary but the disease shortens life expectancy and ravages the body by damaging:
Currently, bone marrow transplants and recently developed enzyme replacement therapy have successfully reduced the storage of material in the body’s soft tissue organs. However, because MPS1 is degenerative and current treatments do not help with damage to their bones and joints, people with MPS1 continue to suffer significant problems with bone formation and growth, resulting in pain, nerve compression and the need for multiple surgeries.
There is currently no cure for MPS1, but there is hope. With the success of current treatments, people with MPS1 now have a chance to lead a longer life. Medical researchers around the world are now focusing attention on developing new treatments and studying if medications approved for other diseases can improve the quality of life for those with MPS1. The most important reason the MPS1 Research Foundation was established is to put together tax-exempt donations to fund the efforts of these leading scientists and doctors. Working closely with organizations like the National MPS Society, the directors of the MPS1 Research Foundation have years of experience communicating with the leading doctors and institutions involved in MPS research.
Learn More about MPS1 Research
Please note that Information on this Website is intended for general educational purposes only, and should not be construed as advising on diagnosis or treatment of this or any other medical condition.
WHAT IS MPS1?
Mucopolysaccharidosis1 (MPS1) is a genetic lysosomal storage disease caused by the body’s inability to produce the enzyme alpha-L-iduronidase. Without sufficient levels of this enzyme, the body cannot break down and recycle material in cells normally. This results in a “storage” of material inside virtually every cell causing progressive damage throughout the body.
WHAT ARE THE SYMPTOMS?
While the disease may not be apparent at birth, complications develop with age as material in the cells accumulates. Symptoms vary but the disease shortens life expectancy and ravages the body by damaging:
- the heart
- respiratory system
- central nervous system
- bones, joints, and other organs
WHAT TREATMENTS ARE AVAILABLE?
Currently, bone marrow transplants and recently developed enzyme replacement therapy have successfully reduced the storage of material in the body’s soft tissue organs. However, because MPS1 is degenerative and current treatments do not help with damage to their bones and joints, people with MPS1 continue to suffer significant problems with bone formation and growth, resulting in pain, nerve compression and the need for multiple surgeries.
IS THERE A CURE?
There is currently no cure for MPS1, but there is hope. With the success of current treatments, people with MPS1 now have a chance to lead a longer life. Medical researchers around the world are now focusing attention on developing new treatments and studying if medications approved for other diseases can improve the quality of life for those with MPS1. The most important reason the MPS1 Research Foundation was established is to put together tax-exempt donations to fund the efforts of these leading scientists and doctors. Working closely with organizations like the National MPS Society, the directors of the MPS1 Research Foundation have years of experience communicating with the leading doctors and institutions involved in MPS research.
Learn More about MPS1 Research
Please note that Information on this Website is intended for general educational purposes only, and should not be construed as advising on diagnosis or treatment of this or any other medical condition.
