Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 112
- 试验地点
- 1
- 主要终点
- Scoliosis and it's progression
研究概览
简要总结
The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.
详细描述
Neurofibromatosis type 1 (NF1) is a common genetic disorder that is associated with spinal abnormalities which are varied and may include scoliosis, neurofibromas, meningoceles, and vertebral defects. Skeletal abnormalities occur in more than one third of individuals with the disorder. These abnormalities are unpredictable and the pathogenesis, natural history, and clinical outcome remain relatively unclear.
The primary objective of this study is to determine the incidence and clinical history of NF1-related spinal abnormalities in children with NF1, over a 3-year period.
In the study, researchers will enroll children between ages 6 and 9 years who have been diagnosed with NF1 to look at changes in the spine. Participants in the study will be followed yearly for a total of 4 evaluations. Evaluations may include bone scans, spinal x-rays, magnetic resonance imaging (MRI), computed tomography (CT) scans, and urine samples.
Information gained from this study may lead to a better understanding of the causes of bone disease in NF1, and improved treatment.
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
- 6 Years 至 9 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of NF1
- •Age greater than 6 years at time of enrollment
- •Age less than 9 year and 1 day at time of enrollment
- •Tanner Stage not greater than 1
排除标准
- •Prior surgical repair of spine
- •Short-segment (4-6 vertebrae) curve with a Cobb angle of 45°or more
- •Hormone replacement therapy
- •Chronic steroid use
- •Tibial pseudarthrosis
- •Other chronic medical problems known to influence bone health (i.e. diabetes mellitus, cerebral palsy, etc.)
结局指标
主要结局
Scoliosis and it's progression
时间窗: 4 years
次要结局
- Differences in other bone health variables as measured by thoracic MRIs, Dexa (xray measuring bone density), pQCT (a cross sectional picture of the tibia), urine analysis, and scoli series (xrays to look for scoliosis).(4 years)
研究者
David Viskochil
Professor
University of Utah