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
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)
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
Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician
Cohort
Other
Not listed
Summary statistics of retrospective and prospective collection of data on diagnosis.
Summary statistics of retrospective and prospective collection of data on health care utilization.
Summary statistics of retrospective and prospective collection of data on medications.
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
Change from baseline for QMG total score, each component score, and raw values
The Quantitative Myasthenia Gravis (QMG) consists of 13 items that assess ocular, bulbar, and limb function. Six of the 13 items are timed endurance tests measured in seconds. Each item has a possible score from 0 to 3, with 3 being the most severe. The total possible score is 39, with higher scores indicating more severe impairments.
Change from baseline for MG-ADL total score
The Myasthenia Gravis Activities of Daily Living (MG-ADL) is an 8-item scale that assesses MG symptoms and their effects on daily activities. The 8 items are rated by the participant on a scale of 0 to 3. The total score can range from 0 to 24, with higher total scores indicating more impairment.
Change from baseline for PROMIS-GHS
The Patient-Reported Outcomes Measurement Information System Global Health Scale (PROMIS-GHS) is a quality-of-life questionnaire that comprises questions on overall physical health, physical function, pain, and fatigue (GPH); and quality of life, mental health, satisfaction with social activities, and emotional problems (GMH). The participant marks their response on a 5-point Likert scale, with lower scores indicating poorer health
Change from baseline for PROMIS-DFL
The Patient-Reported Outcomes Measurement Information System Dyspnea Functional Limitations (PROMIS-DFL) is a questionnaire that evaluates the impact of dyspnea on the ability to perform daily activities within the last 7 days. The participant marks their response on a 4-point scale (0 to 3), with lower values indicating less functional impairment.
