Natural History Studies of Mucopolysaccharidosis III
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.
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 ] [ Designated as safety issue: No ]Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.
- Adaptive functioning [ Time Frame: Months 0, 6, and 12 ] [ Designated as safety issue: No ]Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System
- Emotional/behavioral function [ Time Frame: Months 0, 6, and 12 ] [ Designated as safety issue: No ]Assessment of emotional/behavioral problems using the Child Behavioral Checklist
- White and grey matter brain volumes [ Time Frame: Months 0 and 12 ] [ Designated as safety issue: No ]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 ] [ Designated as safety issue: No ]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 ] [ Designated as safety issue: No ]Liver volume will be assessed by abdominal MRI obtained under the same sedation event as brain MRI and lumbar puncure.
Biospecimen Retention: Samples With DNA
Biobanking will include:
- Cerebrospinal fluid
|Study Start Date:||August 2013|
|Estimated Study Completion Date:||July 2015|
|Estimated Primary Completion Date:||July 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 with the following goals:
- To identify individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients.
- To study the natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial.
- To establish baseline functional data in patients who will be potential candidates for an eventual trial.
- To identify biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid.
This study will last a year. Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio three times: at enrollment (visit 1), at 6 months (visit 2), and at 12 months (visit 3). During visits 1 and 3, an MRI and a lumbar puncture will be performed.
|Contact: Krista Kunklerfirstname.lastname@example.org|
|United States, Ohio|
|Nationwide Children's Hospital||Recruiting|
|Columbus, Ohio, United States, 43205|
|Contact: Krista Kunkler 614-722-2238 email@example.com|
|Principal Investigator: Kevin Flanigan|
|Principal Investigator:||Kevin M Flanigan, MD||Nationwide Children's Hospital, Columbus, Ohio|