Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 95
- 试验地点
- 43
- 主要终点
- Urine Phosphorus Homeostasis
研究概览
简要总结
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease presentation and progression through retrospective (past) and longitudinal prospective (over time into the future) data collection.
详细描述
The ADH1 and ADH2 DMS is designed to better understand the disease burden of ADH1 and ADH2, how participants with ADH1 or ADH2 are managed with standard of care practices in a real-world setting, and how standard of care treatment impacts ADH1 and ADH2 symptoms.
The study will include adult and pediatric participants with a confirmed clinical diagnosis of ADH1 or ADH2. Each participant's data will be collected over a period of up to 5 years. In addition, retrospective (or past) data will be collected.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have a documented activating variant or variant of uncertain significance of the CASR gene causative of ADH1 or documented activating variant or variant of uncertain significance of the GNA11 gene causative of ADH2 associated with a clinical syndrome of hypoparathyroidism prior to enrollment
- •Note: Acceptable documentation includes CASR or GNA11 genetic analysis report. If no prior documented CASR or GNA11 gene variant or variant of uncertain significance, potential participants can undergo CASR and GNA11 gene variant analysis at Screening.
- •Be willing and able to provide informed consent or assent after the nature of the study and its details have been explained, and prior to any research-related procedures
- •Be willing and able to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available
- •Be willing and able to comply with the study visit schedule and study procedures
排除标准
- •Have serious medical or psychiatric comorbidity that, in the opinion of the Investigator, would present a concern for participant safety or compromise the ability to provide consent or assent, or comply with the study visit schedule and study procedures
- •Enrollment in an interventional clinical study at the time of DMS Screening visit
- •Note: Other protocol defined Inclusion/Exclusion criteria may apply.
研究组 & 干预措施
ADH 1/2 DMS
Participants with ADH1 or ADH2. No investigational product will be administered to participants in this study. Participants will only receive standard of care (SoC) treatment as directed by the participants' treating physicians.
结局指标
主要结局
Urine Phosphorus Homeostasis
时间窗: Up to 60 months
Blood Calcium Homeostasis
时间窗: Up to 60 months
Magnesium Homeostasis
时间窗: Up to 60 months
Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis
时间窗: Up to 60 months
Urine Magnesium Homeostasis
时间窗: Up to 60 months
Phosphorus Homeostasis
时间窗: Up to 60 months
Intact Parathyroid Hormone (iPTH) Homeostasis
时间窗: Up to 60 months
Urine Calcium Homeostasis
时间窗: Up to 60 months
次要结局
- Blood Creatinine Levels(Up to 60 months)
- Estimated Glomerular Filtration Rate (eGFR)(Up to 60 months)
- Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)(Up to 60 months)
- Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound(Up to 60 months)
- Change from Baseline in 36-Item Short Form Health Survey (SF-36v2) Physical Component Score and Mental Component Score in Participants ≥ 16 years(Up to 60 months)
- Change from Baseline in 10-Item Short-Form 10 Healthy Survey for Children (SF-10) Score in participants ≥ 6 years and <16 years(Up to 60 months)
- Number of Participants Receiving One or More ADH1/2 Treatment Regimens(Up to 60 months)