Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 17
- 试验地点
- 1
- 主要终点
- Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population
研究概览
简要总结
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Eligible participants must currently receive care in the Shriners Hospitals for Children system, and therefore, will be under 19 years of age.
- •Eligible participants must have one of the following diagnoses: bilateral Legg-Calve-Perthes disease, bilateral hip dysplasia, multiple joint pain, unidentified skeletal dysplasia
- •Eligible participants (or legal guardian) must be able and willing to sign informed consent/assent in English or Spanish.
排除标准
- •Participants with one or more or the above inclusion diagnoses who have a specific etiologic diagnosis will not be eligible to participate in this study.
- •If we are unable to obtain the necessary specimens, the participant will be removed from the study.
结局指标
主要结局
Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population
时间窗: Data will be reviewed at the end of 1 year
The primary objective of this study is to identify patients with Morquio syndrome type A or Maroteaux-Lamy syndrome who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative mucopolysaccharidosis urine screening.
次要结局
- DNA and urine collection and storage in a pediatric orthopedic population(Specimen collection will occur within one year, and specimen storage will be indefinite)
研究者
R. Curtis Rogers
Senior Clinical Geneticst
Greenwood Genetic Center