Natural History Studies of Mucopolysaccharidosis III

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Disease Information

Descriptive Information
Brief Title † Natural History Studies of Mucopolysaccharidosis III
Official Title † Natural History Studies of Mucopolysaccharidosis III
Brief Summary The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.
Detailed Description Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death. In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following: 1. Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients 2. The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial 3. Baseline functional data in patients who will be potential candidates for an eventual trial 4. Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Cohort, Time Perspective: Prospective
Primary Outcome Measure † Cognitive function
Secondary Outcome Measure † Adaptive functioning
Condition † Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIB
Intervention † ProcedureLumbar puncture
Study Arms / Comparison Groups MPS IIIA/B Subjects Cohort will be followed for one year to assess natural history of the disease.
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Procedure
Estimated Enrollment † 30
Start Date † February 2014
Completion Date October 2015
Primary Completion Date October 2015
Eligibility Criteria † Inclusion Criteria: 1. Age 2 years old or greater 2. Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods: 1. No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay 2. Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes 3. Clinical history of or examination features of neurologic dysfunction. Exclusion Criteria: 1. Inability to participate in the clinical evaluations 2. Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics 3. Inability to be safely sedated in the opinion of the clinical anesthesiologist
Gender Both
Ages 2 Years - N/A
Accepts Healthy Volunteers No
Contacts †† Krista Kunkler, 614.722.2238,
Location Countries † United States
Administrative Information
NCT ID † NCT02037880
Organization ID MPSIII-1
Secondary IDs ††
Responsible Party Principal Investigator
Study Sponsor † Nationwide Children's Hospital
Collaborators †† Sanfilippo Children's Research Foundation
Investigators † Principal Investigator: Kevin M Flanigan, MD, Nationwide Children's Hospital, Columbus, Ohio
Information Provided By
Verification Date February 2015
First Received Date † November 26, 2013
Last Updated Date February 10, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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