NCT05705674招募中不适用
The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
Lysosomal and Rare Disorders Research and Treatment Center, Inc.1 个研究点 分布在 1 个国家目标入组 6 人开始时间: 2023年5月1日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 6
- 试验地点
- 1
- 主要终点
- To characterize the disease natural history in patients with MPS3.
研究概览
简要总结
The natural history study of patients with Sanfilippo disease(s) (MPS3)
详细描述
This is a natural history study of patients with Sanfilippo Disease (MPS3). Patients will be followed over the course of 6 months in which they have blood and urine collected, hearing assessment, complete questionnaires and are evaluated by the Principal Investigator.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
- •Genetically confirmed diagnosis of MPS III disease Genomic DNA analysis demonstrating a homozygous or compound heterozygous pathogenic variants in SGSH (type A), NAGLU (type B), HGSNAT (type C), or N- acetylglucosamine-6-sulfatase GNS (type D).
- •Male or female; five years of age and older
- •Negative urine pregnancy test at screening for female subjects with child-bearing potential
排除标准
- •Unwilling or unable to follow protocol requirements as per principal investigator
- •Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
- •Any medical condition that, in the opinion of the PI, would place a subject at undue risk
- •Inability to cooperate for clinical and safety data collection
- •Use of genistein or Miglustat within one week of the study
- •Evidence of hepatitis B or hepatitis C infection upon serological testing at screening
- •Currently participating in another interventional drug trial or has completed an interventional trial less than one month prior to the screening visit
结局指标
主要结局
To characterize the disease natural history in patients with MPS3.
时间窗: 6 months
To characterize the disease natural history in patients with MPS3.
次要结局
未报告次要终点
研究者
研究点 (1)
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