Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric Ear, Nose and Throat (ENT) Surgery (Adenoidectomy and/or Tonsillectomy and/or Tympanostomy) (The HATT Project)
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- Shire
- 入组人数
- 159
- 试验地点
- 14
- 主要终点
- The status of diagnosis of MPS II (either positive or negative) of each subject
研究概览
简要总结
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of approximately 1.3 per 100,000 live male births.1 Early identification of MPS II is challenging because some initial features, such as chronic runny nose, otitis media, and hernias, are commonly seen in the general population. As a result, even though the signs and symptoms of MPS II typically appear early in childhood, the diagnosis may lag behind by several years.
The primary objective of this international multi-center study is to evaluate the positive screening rate of MPS II subjects by screening a high-risk male pediatric population who have had or are scheduled for 1 or more specific ENT surgical procedures (adenoidectomy and/or tonsillectomy and/or tympanostomy) and who have a previously repaired or present evidence of an inguinal and/or umbilical hernia.
详细描述
With evidence-based information from MPS registries regarding the types of surgical interventions that are most prevalent in MPS, this screening study is expected to provide the understanding of the role pediatric ENT surgeons can play in identifying young children with MPS.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 7 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Each subject must meet the following criteria to be enrolled in this study:
- •The subject is male.
- •The subject is <7 years of age.
- •The subject has had or is scheduled for ENT surgery for any of the following, alone or in combination: adenoidectomy, tonsillectomy, and tympanostomy.
- •The subject has record of previous surgical repair or presence of inguinal and/or umbilical hernia.
- •The subject's parent(s) or the subject's legally authorized representative(s) has provided written informed consent that has been approved by the Institutional Review Board/Independent Ethics Committee (IRB/IEC).
排除标准
- •Subjects who meet any of the following criteria will be excluded from the study:
- •The subject has a current confirmed diagnosis of any MPS disorder.
- •The subject was born prematurely (defined as born before 37 weeks gestation).
- •The subject has received a blood transfusion within the past 6 weeks.
- •The subject has received a bone marrow transplant.
结局指标
主要结局
The status of diagnosis of MPS II (either positive or negative) of each subject
时间窗: Screening visit
To evaluate the positive screening rate of MPS II subjects by screening a high risk male pediatric population.
次要结局
- The status of diagnosis of MPS I or VI (either positive or negative) of each subject(Screening visit)