24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Mayo Clinic
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency
研究概览
简要总结
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.
详细描述
In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would be the first and only known registry of its kind. These resources would be made widely available to clinicians and research scientists within Mayo to stimulate advances in the diagnosis and treatment of patients with this disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients who have undergone genetic testing for a CYP24A1 mutation with at least 3 of the following:
- •Urinary Stone Disease
- •Nephrocalcinosis
- •Metabolic Bone Disease
- •Serum Calcium >/= 9.6 mg/dL
- •Parathyroid hormone (PTH) < 30 pg/mL
- •1,25-dihydroxyvitamin D > 40 pg/mL OR a family member of a patient who meets the above criteria
排除标准
- •Patients who have tested negative for a CYP24A1 mutation with an alternative diagnosis that might explain hypercalcemia/hypercalciuria/stone disease:
- •Sarcoidosis
- •Tuberculosis
- •Fungal infections
- •Excessive exogenous calcium or vitamin D intake
结局指标
主要结局
establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency
时间窗: yearly
This patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.
次要结局
- Improved understanding of symptoms and progression of this disease(yearly)