Natural History Studies of Mucopolysaccharidosis III
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Cognitive function
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 2 years old or greater
- •Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
- •No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
- •Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
- •Clinical history of or examination features of neurologic dysfunction.
排除标准
- •Inability to participate in the clinical evaluations
- •Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
- •Inability to be safely sedated in the opinion of the clinical anesthesiologist
结局指标
主要结局
Cognitive function
时间窗: up to 12 months
Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.
次要结局
- Adaptive functioning(Months 0, 6, and 12)
- Emotional/behavioral function(Months 0, 6, and 12)
- White and grey matter brain volumes(Months 0 and 12)
研究者
Kevin Flanigan
MD
Nationwide Children's Hospital