More About Sanfilippo Syndrome
The MPS Family of Diseases
There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children born with Mucopolysaccharide or MPS are unable to produce one of the enzymes essential for this process. Used materials cannot be broken down and remain stored in the cells of the body.
Babies born with one of the nine forms of MPS may show no sign of the disease, but as more and more cells become damaged by the storage of used material, symptoms begin to appear. Sadly the MPS family of disease is progressive which lead to an increase in symptoms and the problems they create as the years go by.
Sanfilippo Syndrome is one of nine mucopolysaccharide diseases. Also known as MPS lll, it takes its name from Dr. Sanfilippo who was one of the doctors who first described the condition in 1963. MPS III is subdivided into 4 similar subtypes. Sophie suffers from the particular subtype MPS III B.
How does the disease progress?
Children begin life without any symptoms, and the early effects of the disease such as diarrhea, frequent respiratory and ear infections and boisterous behavior are among the most common seen in all children. Doctors must be perceptive enough to recognize that something serious is wrong and perform specialzed urine and blood tests to help reach a diagnosis.
Both parents of affected children are carriers, and each child they conceive has a 25% chance of being affected with the disease. As many children are not diagnosed for several years, it is not unusual for families to have had more than one affected child before the diagnosis is established.
The disease will affect children differently and its progress will be much faster in some cases than in others. A Sanfilippo child’s pre-school years may be very frustrating for parents. They begin to worry as their child starts to lag behind their friends’ children in development and they may feel they are being blamed for the child’s overactive and difficult behavior.
The second phase of the condition is characterized by extremely active, restless and often very difficult behavior. Some children sleep very little at night. Many will be into everything, and can be described as hyperactive. Many like to chew; hands, clothes, or anything they can get hold of. Sadly, during this phase language and understanding will gradually be lost and parents may find it hard not being able to have a conversation with their child. Many will find other ways of communicating, perhaps using sign language. Some children never become toilet trained and those who do will eventually lose this ability.
In the third phase of the disease Sanfilippo children begin to slow down. They become more unsteady on their feet, tending to fall frequently as they walk or run. Eventually they will be confined to a wheelchair. Most Sanfilippo patients do not live past their mid-teens.
Towards a Treatment and Cure
At present there is no treatment or cure for Sanfilippo Syndrome, however several promising studies are currently underway. “Strides for Sophie” is being run in support of the “Sanfilippo Children’s Research Foundation”, the only Canadian charity dedicated to funding research directed specifically towards finding a cure.
Your generous donations are making a real, tangible difference. At least two experimental research programs are showing real promise. Sophie is participating in a natural history study in Columbus, Ohio at Nationwide Children’s Hospital. This study, which measures the physiological impacts of the disease by examining its physical impacts (through blood work, spinal fluid, etc) and the psychological impacts. The goal is to benchmark a Sanfillipo patient’s state at 7 years old to determine whether experimental treatments are having an impact.
There is no way that this would be happening were it not for your generous donations and the work of the Sanfillipo Children’s Research Foundation. As a leading global funder of this research, it is a major reason why research into this condition has taken place at all. Your generous donations- almost $400,000 since 2010- have helped to add fuel to the fire. We’re getting closer and need to keep pushing.
Nationwide expects to be in the field with an experimental treatment at the end of 2015. We hope to be there with them, and we have a hope thanks to you.
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Towards A Cure
Since Sophie was diagnosed in 2009, there have been major steps taken in helping to find ways to delay and even cure MPS and Sanfilippo Syndrome. Certain types of MPS research have made significant progress, but Sanfilippo remains one of the most difficult variants because of the impact on the brain. However, recent cutting edge developments in medical research are being pursued in only a few research facilities around the world and they are largely funded by donors such as the Sanfillipo Childrens Research Foundation that Strides for Sophie raises money for.
Promising opportunities worldwide include:
Nationwide Children’s Research Hospital, Columbus Ohio- Dr. Fu and Dr. McCarty
Dr. Fu’s research has focused on gene therapy in mice and has been found to both increase lifespan and improve behaviour, though it will not necessarily cure the disease. However, Dr. Fu’s research into delivering therapeutic reagents (such as gene delivery vectors or enzymes) into the central nervous systems have shown great promise. It allows the delivery of therapeutic materials to bypass the blood brain barrier to directly enter the central nervous system. The next step is applying the results of these tests from animals to humans.
Preclinical studies are being conducted in late 2013 and 2014 to study Sanfilippo’s progression and to establish benchmarks that can be used to test the effectiveness of Dr. Fu’s promising gene therapy. The studies establish biomarkers in volunteers, and these will be compared before, during and after testing. These include cerebro-spinal fluid, urine and by conducting an MRI of the brain.
The goal is to treat the long-term cause, or more specifically, to treat the gene defect that causes the excess ‘waste’ to flow through the bloodstream. This will be done by creating a ‘vector’ that can cross the blood-brain barrier to replace the missing enzyme. In mouse models, this was find to replace missing enzyme activity and correct the excess lysosomal storage.
After the natural history study is complete, the plan is to begin gene transfer treatment in 2014-15. The goal is to learn how the treatment helps the patients feel, function and survive. Ultimately, it could lead to the creation of a new drug after the test is complete. If the drug has sufficient promise, approval could be accelerated.
This is a promising clinical study that is being funded by Canada’s own Sanfllippo Childrens Research Foundation, and six other foundations from the Spain, Switzerland, and the U.S.. This is one of the most important investments we can make to cure this disease, and our partnership with the SCRF has helped direction $250,000 towards this and similar research.
University of Manchester- Dr. Brian Biggar
Dr. Biggar’s research team found that a product called Genistein may prove useful as substrate reduction agent and delay clinical onset of Sanflippo Syndrom. A low-dose version (which Sophie takes in powder form) is available but a clinical test of a high-dose version is taking place in Manchester and the Amsterdam medical centre. Dr. Biggar’s efforts have also been partially funded by the SCRF.
Institute Pasteur, Paris France- Dr. J.M. Heard
Dr. Heard is leading a test that would inject a gene therapy directly into the cerebral cortex via a needle, thereby circumventing the blood-brain barrier. This test has been completed on a small sample group, and the results are currently being compiled to determine next steps.
Primary research credit goes to The Canadian Society for Mucoplysaccharide & Related Diseases