Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- argenx
- Enrollment
- 100
- Locations
- 45
- Primary Endpoint
- Summary statistics of retrospective and prospective collection of data on diagnosis.
Study Overview
Brief Summary
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
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Ages
- 2 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- •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
Outcomes
Primary Outcomes
Summary statistics of retrospective and prospective collection of data on diagnosis.
Time Frame: Up to 12 months
Summary statistics of retrospective and prospective collection of data on health care utilization.
Time Frame: Up to 12 months
Summary statistics of retrospective and prospective collection of data on medications.
Time Frame: Up to 12 months
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
Time Frame: Up to 12 months
Secondary Outcomes
- 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)