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

Sponsor
argenx (Industry)
Overall Status
Not yet recruiting
CT.gov ID
NCT06078553
Collaborator
(none)
30
Enrollment
21
Anticipated Duration (Months)

Study Details

Study Description

Brief Summary

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    30 participants
    Observational Model:
    Cohort
    Time Perspective:
    Other
    Official Title:
    Multicenter, Multinational, Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes
    Anticipated Study Start Date :
    Oct 1, 2023
    Anticipated Primary Completion Date :
    Jul 1, 2025
    Anticipated Study Completion Date :
    Jul 1, 2025

    Outcome Measures

    Primary Outcome Measures

    1. Summary statistics of retrospective and prospective collection of data on diagnosis. [Up to 12 months]

    2. Summary statistics of retrospective and prospective collection of data on health care utilization. [Up to 12 months]

    3. Summary statistics of retrospective and prospective collection of data on medications. [Up to 12 months]

    4. Summary statistics of retrospective and prospective collection of data on change in health status. [Up to 12 months]

    Secondary Outcome Measures

    1. 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]

    2. 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]

    3. 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]

    4. 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]

    5. At each applicable time point, the absolute value and change from baseline for EQ-5D-5L [Up to 12 months]

    6. At each applicable time point, the absolute value and change from baseline for Timed Up and Go [Up to 12 months]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    No locations specified.

    Sponsors and Collaborators

    • argenx

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    argenx
    ClinicalTrials.gov Identifier:
    NCT06078553
    Other Study ID Numbers:
    • ARGX-119-NIS-2301
    First Posted:
    Oct 12, 2023
    Last Update Posted:
    Oct 12, 2023
    Last Verified:
    Oct 1, 2023
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Lambert-Eaton Myasthenic Syndrome
    Myasthenic Syndromes, Congenital
    Syndrome

    Study Results

    No Results Posted as of Oct 12, 2023