A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 75
- 试验地点
- 1
- 主要终点
- Characterize baseline clinical manifestations and CMS disease
研究概览
简要总结
Background:
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders that affect how the nerves communicate with muscles. These can cause many problems that affect how people can move and use their bodies.
Objective:
This is a natural history study to learn more about how CMSs affect the body and cause changes over time.
Eligibility:
People aged 6 months or older with a CMS. The study will focus on DOK7- and COLQ-related CMSs, as well as other forms.
Design:
Participants will have up to 7 visits in 5 years. At each visit, participants will undergo many tests, including:
Physical exam with blood and urine tests.
Tests of their heart and lung function.
Exams of the eyes, lungs, muscles, and nerves. These will be done with different specialists.
Exams of the arms and hands and of body use and movements. These will also be done with specialists.
Photos and videos may be taken.
Muscle ultrasound. Participants will lie still as a wand is rubbed over their skin.
Magnetic resonance imaging (MRI) scans. Participants will lie still on a bed that slides partway into a large tube. A parent or other person may remain in the room, too. The scan will take 60 minutes.
Electromyography (EMG). Participants will lie still or may be asked to move around. A machine will measure the electrical activity in their muscles.
An activity monitor may be placed on the participant s wrist, ankle, or hip for up to 2 weeks. The monitor is about the size of a wristwatch.
A sample of skin may be removed....
详细描述
Study Description:
This natural history and outcome measure validation study aims to longitudinally characterize the clinical manifestations of all congenital myasthenic syndromes (CMS), with a focus on DOK7 and COLQ-related CMS. Both are ultra-rare inherited disorders of the neuromuscular junction. This study will also assess the validity and interrater reliability of outcome measures to support clinical trial readiness in these populations.
Primary Objective:
Characterize baseline clinical manifestations and CMS disease course over one year.
Co-Primary Objective:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- •Stated willingness to comply with all study procedures and availability for the duration of the study
- •Male or female, aged >= 6 months of age
- •Clinically stable as evidenced by medical record review and remote screening questionnaire
- •Genetically confirmed congenital myasthenic syndrome (pathogenic or likely pathogenic variants identified by CLIA testing in an established CMS-related gene including but not limited to DOK7, COLQ, CHRNE, RAPSN, CHAT, GFPT1, DPAGT1 OR pathogenic/likely pathogenic variant in combination with a variant of uncertain significance (VUS) AND additional clinical supporting evidence of CMS).
- •Agreement to adhere to Lifestyle Considerations throughout study duration
- •Ability of subject to understand and the willingness to provide informed consent (>=18 years of age) and assent (>=7 years of age).
排除标准
- •Received gene transfer therapy
- •Pregnant women (prior to enrollment)
- •Ongoing medical condition or medication use that is deemed by the Principal Investigator to interfere with the conduct or assessments of the study or safety of the subject.
研究组 & 干预措施
COLQ-related CMS
Genetically confirmed COLQ-related CMS
结局指标
主要结局
Characterize baseline clinical manifestations and CMS disease
时间窗: One year
Assess the validity and interrater reliability of outcome measures in CMS
时间窗: 5 Years
次要结局
- Characterize the extended disease course of CMS(Years 2-5)