Natural History Studies of Mucopolysaccharidosis III
|Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIB||Procedure: Lumbar puncture Device: Magnetic Resonance Imaging (MRI) of the brain|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Natural History Studies of Mucopolysaccharidosis III|
- Cognitive function [ Time Frame: up to 12 months ]Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.
- Adaptive functioning [ Time Frame: Months 0, 6, and 12 ]Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System
- Emotional/behavioral function [ Time Frame: Months 0, 6, and 12 ]Assessment of emotional/behavioral problems using the Child Behavioral Checklist
- White and grey matter brain volumes [ Time Frame: Months 0 and 12 ]Assessment of brain volumes by MRI. MRI will be performed under sedation.
- Serum and cerebrospinal fluid NAGLU (MPSIIIB subjects) or SGSH (MPSIIIA subjects) levels [ Time Frame: Months 0 and 12 ]Measurement of NAGLU or SGSH activity in serum (by venipuncture) and CSF (by lumbar puncture). Lumbar puncture will be performed under sedation.
- Liver size [ Time Frame: Months 0 and 12 ]Liver volume will be assessed by abdominal MRI obtained under the same sedation event as brain MRI and lumbar puncture.
Biospecimen Retention: Samples With DNA
Biobanking will include:
- Cerebrospinal fluid
|Study Start Date:||February 2014|
|Study Completion Date:||November 2015|
|Primary Completion Date:||November 2015 (Final data collection date for primary outcome measure)|
MPS IIIA/B Subjects
Cohort will be followed for one year to assess natural history of the disease.
|Procedure: Lumbar puncture Device: Magnetic Resonance Imaging (MRI) of the brain|
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:
- Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
- The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
- Baseline functional data in patients who will be potential candidates for an eventual trial
- 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02037880
|United States, Ohio|
|Nationwide Children's Hospital|
|Columbus, Ohio, United States, 43205|
|Principal Investigator:||Kevin M Flanigan, MD||Nationwide Children's Hospital, Columbus, Ohio|