NL-OMON50003招募中不适用
A study of the in-vitro thermal stability of the ryanodine receptor-1 in patients with RYR1 variants - Thermal stability and RYR1
Canisius Wilhelmina Ziekenhuis0 个研究点目标入组 20 人开始时间: 待定最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 20
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational invasive
入排标准
- 年龄范围
- 18 至 99（—）
入选标准
- •Inclusion criteria RYR1 patients
- •* Genetically proven RYR1 variant
- •* Indication for an IVCT in the context of routine clinical care
- •* Age 18 * 65 years old
- •Inclusion critera healthy controls
- •* Indication for surgery of the upper leg in the context of routine clinical
- •care, e.g. removal of osteosynthesis material or elective orthopaedic surgery
- •of the upper leg.
- •* Age 18 * 65 years old
排除标准
- •Exclusion criteria RYR1 patients
- •* Another family member is included in the study
- •* An MH reaction, EHS, ER, compartment syndrome, ischaemia of the lower
- •extremities, trauma of the upper legs or rhabdomyolysis due to another
- •aetiology in the past 4 months.
- •* A viral infection in the past week
- •* Other neuromuscular disorders than RYR1 related MH/ER/EHS
- •* Patients using systemic corticosteroids during the last 3 months
- •* Pregnancy or lactating
- •* No written informed consent by the patient
- •Exclusion criteria healthy controls
- •* A history of a RYR1 variant
- •* Another family member is included in the study
- •* A history or a family history of a RYR1 related disease (MH, EHS, ER, central
- •core disease, multi-minicore disease)
- •* A history of a neuromuscular disorder
- •* Patients using systemic corticosteroids during the last 3 months
- •* Patients with a current compartment syndrome, planned for fasciotomy
- •* Patients with current ischaemia of the lower extremities with an indication
- •for vascular surgery or amputation.
- •* Patients with current trauma of the upper legs and an indication for surgery.
- •* A compartment syndrome, ischaemia of the lower extremities, trauma of the
- •upper legs or rhabdomyolysis due to another aetiology in the past 4 months.
- •* A viral infection in the past week.
- •* Pregnancy or lactating
- •* No written informed consent by the patient
研究者
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