Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- argenx
- 入组人数
- 100
- 试验地点
- 45
- 主要终点
- Summary statistics of retrospective and prospective collection of data on diagnosis.
研究概览
简要总结
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.
More information can be found here: https://clinicaltrials.argenx.com/cms
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
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Can understand the requirements of the study and can provide written informed consent/assent, and willingness and ability to comply with the study protocol procedures
- •Is male or female and aged ≥2 years at the time of providing informed consent/assent
- •Has a diagnosis of CMS due to biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4
- •Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 (applies only to participants aged ≥6 years)
- •For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening/baseline
排除标准
- •Known medical condition that would interfere with an accurate assessment of CMS, in the investigator's opinion
- •Is currently participating in any interventional clinical study with a study drug at the time of providing informed consent/assent
- •Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4
结局指标
主要结局
Summary statistics of retrospective and prospective collection of data on diagnosis.
时间窗: Up to 12 months
Summary statistics of retrospective and prospective collection of data on health care utilization.
时间窗: Up to 12 months
Summary statistics of retrospective and prospective collection of data on medications.
时间窗: Up to 12 months
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
时间窗: Up to 12 months
次要结局
- Change from baseline for QMG total score, each component score, and raw values(Up to 12 months)
- Change from baseline for MG-ADL total score(Up to 12 months)
- Change from baseline for PROMIS-GHS(Up to 12 months)
- Change from baseline for PROMIS-DFL(Up to 12 months)
- Change from baseline for EQ-5D-5L(Up to 12 months)
- Change from baseline for 3TUG(Up to 12 months)
- Change from baseline for Neuro-QoL Fatigue score(Up to 12 months)