A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

argenx100 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

100

Conditions

Congenital Myasthenic Syndrome

Eligibility

Sex: ALLMin age: 2 Years

Medical Language ↔ Plain English

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

Locations (19)

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center

Sacramento, California, United States

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

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.

Time frame: Up to 12 months

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.

Time frame: Up to 12 months

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

Central Contacts

Sabine Coppieters, MD

CONTACT

857-350-4834 clinicaltrials@argenx.com

Data from ClinicalTrials.gov

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