A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)

Study Overview
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Brief Summary
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Participants will attend up to 3 study visits and complete home digital physical activity monitoring for 1 week after each visit. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with DOK7-CMS better and may inform future study design.

Official Title
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Multicenter, Multinational, Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes

Conditions
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Congenital Myasthenic Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Can understand the requirements of the study and can provide written informed consent, and willingness and ability to comply with the study protocol procedures Is male or female and ≥18 years of age at the time of providing informed consent Has a diagnosis of DOK7-CMS due to biallelic pathogenic mutations in DOK7 Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening/baseline Exclusion Criteria: Known medical condition that would interfere with an accurate assessment of DOK7-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 Diagnosis of CMS due to mutation of any gene other than DOK7

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Summary statistics of retrospective and prospective collection of data on diagnosis. |  | Up to 12 months | 
| Summary statistics of retrospective and prospective collection of data on health care utilization. |  | Up to 12 months | 
| Summary statistics of retrospective and prospective collection of data on medications. |  | Up to 12 months | 
| Summary statistics of retrospective and prospective collection of data on change in health status. |  | Up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| At each applicable time point, the absolute value and change from baseline for Quantitative Myasthenia Gravis total score, each component score, and raw values |  | Up to 12 months | 
| At each applicable time point, the absolute value and change from baseline for Myasthenia Gravis Activities of Daily Living total score |  | Up to 12 months | 
| At each applicable time point, the absolute value and change from baseline for Patient-Reported Outcomes Measurement Information System Global Health Scale |  | Up to 12 months | 
| At each applicable time point, the absolute value and change from baseline for Patient-Reported Outcomes Measurement Information System Dyspnea Functional Limitations |  | Up to 12 months | 
| At each applicable time point, the absolute value and change from baseline for EQ-5D-5L |  | Up to 12 months | 
| At each applicable time point, the absolute value and change from baseline for Timed Up and Go |  | Up to 12 months |