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NCT Number: NCT06078553

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

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

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Key information

Conditions

Congenital Myasthenic Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Myasthenic Syndromes, Congenital Nervous System Diseases Neuromuscular Diseases Neuromuscular Junction Diseases

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of Vienna, Vienna, Austria

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Summary statistics of retrospective and prospective collection of data on diagnosis.

    Time frame: Up to 12 months

  2. Summary statistics of retrospective and prospective collection of data on health care utilization.

    Time frame: Up to 12 months

  3. Summary statistics of retrospective and prospective collection of data on medications.

    Time frame: Up to 12 months

  4. 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

  1. Change from baseline for QMG total score, each component score, and raw values

    Time frame: Up to 12 months

    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.

  2. Change from baseline for MG-ADL total score

    Time frame: Up to 12 months

    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.

  3. Change from baseline for PROMIS-GHS

    Time frame: Up to 12 months

    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

  4. Change from baseline for PROMIS-DFL

    Time frame: Up to 12 months

    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.

  5. Change from baseline for EQ-5D-5L

    Time frame: Up to 12 months

    The EQ-5D-5L questionnaire is a standardized test recognized by many health authorities as a generic measure of health status for clinical and economic appraisal. The descriptive system comprises 5 dimensions: mobility, self-care, usual activities, pain/discomfort, anxiety/depression. Participants mark their health status from 0 (the worst health you can imagine) to 100 (the best health you can imagine).

  6. Change from baseline for 3TUG

    Time frame: Up to 12 months

    The Triple Timed Up and Go (3TUG) is an objective measure of mobility requiring 3 repetitions (laps) to assess lower extremity weakness and fatigability.

  7. Change from baseline for Neuro-QoL Fatigue score

    Time frame: Up to 12 months

    The Quality of Life in Neurological Disorders (Neuro-QoL) Fatigue questionnaire will be completed by participants aged ≥18 years. The Neuro-QoL Pediatric Fatigue questionnaire will be completed by pediatric participants aged ≥12 to <18 years. Participants aged <8 years will be evaluated using the proxy version of the questionnaire.

Study contacts

Contact information is provided by the study sponsor or research team.

Sabine Coppieters, MD

CONTACT

[email protected]

857-350-4834

Sponsors and collaborators

Lead sponsor

argenx

Industry

Registry information

Official study title

Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Oct 12, 2023
Registry last updated
Jul 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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