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Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. We are conducting a natural history study in MPS III. We will enroll a total of 30 subjects in this study; 15 subjects with MPSIIIA and 15 subjects with MPSIIIB.
Kevin Flanigan, MD
Kim McBride, MD
Haiyan Fu, PhD
Doug McCarty, PhD
Keith Yeates, PhD
Marco Corridore, MD
Purpose of Study:
Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. These diseases result in a buildup of specific sugars in the brain and spinal cord. These diseases cause a decrease in mental function and the ability to move. They eventually result in death.
We are looking for patients for a study of the natural history of MPS type III, with the following goals:
To find how fast mental function and the ability to move decreases
To study the natural history and progress of the disease
To establish normal ranges of function in patients who will be potential subjects for a future treatment study using gene therapy
To find indicators of disease progression over one year. This will include changes in brain activity and in cerebrospinal fluid
Who can participate:
We will enroll 30 subjects total in this study. We will enroll 15 subjects with MPSIIIA and 15 subjects with MPSIIIB. All subjects must meet the following criteria:
Must be at least 2 years old
Must have genetic testing that confirms a diagnosis of MPSIIIA or MPSIIIB
Must have symptoms of the disease including mental decline
Must be able to participate in three clinical visits over the course of 1 year
Must not be taking any medication that prevents a spinal tap or use of anesthetics
Must be able to be safely sedated in the opinion of the clinical anesthesiologist
Who to contact:
For more information regarding this study, please contact the Study Coordinator Krista Kunkler at 614-722-2238, or by email at Krista.Kunkler@nationwidechildrens.org.