A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Zymenex A/S
- 入组人数
- 45
- 试验地点
- 4
研究概览
简要总结
The natural history study of the rare lysosomal disease alpha-mannosidosis will answer the question; why the rare disease develops as it does?
详细描述
Definition:
Human alpha-mannosidosis is a rare genetic disorder, caused by the lack of lysosomal alpha-mannosidase, resulting in mental retardation, skeletal changes, hearing loss and recurrent infections. The lack of alpha-mannosidase causes a disorder of glycoprotein catabolism associated with abnormal levels and excretion of small mannose-rich oligosaccharides.
Prevalence:
Alpha-mannosidosis belongs to a group of lysosomal storage disorders that includes more than 50 different diseases, with a cumulative frequency of about 1:10.000 world wide. The incidence of alpha-mannosidase disease has been estimated to be 1 in 500.000 (Australian and Norwegian study). The disease is not specific to any ethnic group.
Etiology and Pathogenesis:
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The patient (or patient's legal guardian) must provide written informed consent prior to performing any survey-related procedures.
- •The patient must have a documented diagnosis of Alpha Mannosidosis, confirmed at screening by measurable clinical signs and symptoms of Alpha Mannosidosis
- •Documented deficiency of serum or leukocyte acid alpha-mannosidase enzyme activity level
排除标准
- •History of bone marrow transplantation.
- •Use of an investigational drug within 30 days prior to study enrollment.
- •Known medical condition, serious intercurrent illness, or other extenuating circumstance that may significantly decrease study compliance.