跳至主要内容
临床试验/NL-OMON53610
NL-OMON53610招募中不适用

Autosomal Dominant Hypocalcemia Types 1 and 2 (ADH1/2) Disease Monitoring Study (DMS) - ADH1DMP

Calcilytix Therapeutics0 个研究点目标入组 2 人开始时间: 待定最近更新:

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
2

研究概览

简要总结

暂无简介。

研究设计

研究类型
Observational

入排标准

年龄范围
18 至 99(—)

入选标准

  • Participants from birth to age 90 years must meet all the following criteria
  • for inclusion during screening:
  • 1. Have a documented activating variant or variant of uncertain significance of
  • the CASR gene for ADH1 or documented activating variant or variant of uncertain
  • significance of the GNA11 gene for 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.
  • 2. Be willing and able to provide informed consent or assent after the nature
  • of the study has been explained, and prior to any research-related procedures
  • 3. Be willing to provide access to prior medical records including imaging,
  • biochemical, and diagnostic and medical history data, if available
  • 4. Be willing and able to comply with the study visit schedule and study

排除标准

  • Participants are excluded from the study if any of the following criteria
  • 1. 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
  • 2. Enrollment in an ADH1/2 interventional clinical study at the time of DMS
  • Screening visit or at any point during the DMS

研究者

发起方
Calcilytix Therapeutics

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