Genetic Study Explanatory Severe Zinc Deficiencies : Multicenter, Genetics, Controlled and Prospective Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 96
- 试验地点
- 1
- 主要终点
- heterozygous mutations in the SLC39A4 gene
研究概览
简要总结
Given the structural essential, catalytic and co-catalytic played by zinc in many sections of protein metabolism, carbohydrate and lipid (zinc is involved in the function of more than 300 metalloenzymes and metalloproteins), one can imagine the impact of a deficiency or even a sub-chronic zinc deficiency on the health of the individual. Studies multiply that show that, long-term, marginal zinc deficiency is a risk factor for the development of cancer or neurodegenerative complex diseases (eg Alzheimer's disease). In addition, the short-term zinc deficiencies foster the development of skin conditions and susceptibility to viral and bacterial infections. The aim of this project is to identify, in the population of patients with pseudo-acrodermatitis enteropathica (AE) tested in the investigators laboratory, rare variants (mutations "real" epimutations or polymorphisms) located in solute carrier family 39 member 4 (SLC39A4) gene or in 55 other genes chosen for their role in zinc homeostasis.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Are included all patients (minors included) with suggestive symptoms and biological signs of a hereditary deficiency of zinc, appeared for the first time at birth or weaning (see description given in the introduction);
- •Clinical diagnosis of zinc deficiency must be made by a specialist dermatologist, pediatrician or gastroenterologist;
- •Zinc deficiency has been audited by an assay of serum zinc, erythrocyte, plasma, urine or hair;
- •The response of all symptoms and signs to zinc oral supplementation should be rapid and complete.
排除标准
- •All patients with homozygous or compound heterozygous mutations in the SLC39A4 gene are excluded because they have a proven acrodermatitis enteropathica (AE);
- •All patients who developed their first symptoms of zinc deficiency outside the neonatal period, most likely because they have an acquired deficiency and not congenital;
- •All patients with probable cause of zinc deficiency that is surgery of the digestive tract, chronic digestive disease, or total parenteral nutrition.
结局指标
主要结局
heterozygous mutations in the SLC39A4 gene
时间窗: at 3 years
Homozygous mutations in the SLC39A4 gene
时间窗: at 3 years
deleterious variants in 55 zinc homeostasis genes in patient
时间窗: at 3 years
deleterious variants in 55 zinc homeostasis genes in patient's parents
时间窗: at 3 years
次要结局
未报告次要终点