Congenital Myasthenic SyndromeNCT06078553
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
An observational study of Congenital Myasthenic Syndrome, run by argenx at 33 sites in 12 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Congenital Myasthenic Syndrome
- How many people
- 152 participants
- Where
- 33 sitesin 12 countries
- Study dates
- 13 Feb 2024to Sep 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
33 sites in 12 countries.
33 sites in 12 countries
United States7 sites
Harvard Medical School - Boston Children's Hospital
Boston, Massachusetts, 02115
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, 60611
Ohio State Martha Moorehouse
Columbus, Ohio, 43221
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, 62269
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104
Mayo Clinic
Rochester, Minnesota, 55905
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, 95816
France6 sites
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
Bordeaux, 33076
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
Bron, 69500
CHU Lille Hopital Salengro - Neurology
Lille, 59037
CHU Timone
Marseille, 13385
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Paris, 75013
Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre
Strasbourg, 67000
Germany3 sites
Charite - Universitaetsmedizin Berlin
Berlin, 10117
UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH
Bochum, 44789
Universitaetsklinikum Essen (AoR)
Essen, 45147
Poland3 sites
Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz
Bydgoszcz, 85-065
Centrum Medyczne Neurologia Slaska - Neurology
Katowice, 40-689
Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego
Warsaw, 02-097
Spain3 sites
Hospital Sant Joan de Deu - Pediatric Neurology
Esplugues de Llobregat, 08950
Hospital Universitario 12 de Octubre
Madrid, 28041
Hospital Universitari i Politecnic La Fe
Valencia, 46026
Brazil2 sites
Pseg Centro De Pesquisa ClinicaS.A
São Paulo, 04038-002
Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP)
São Paulo, 05403-900
Canada2 sites
The Children's Hospital of Eastern (CHEO), Ottawa
Ottawa, Ontario, K1H8L1
The Ottawa Hospital - Civic Campus
Ottawa, K1Y 4E9
Japan2 sites
National Center Hospital, National Center of Neurology and Psychiatry
Kodaira, 187-8551
National Hospital Organization Akita Hospital - Neurology
Yurihonjō, 018-1393
United Kingdom2 sites
Ulster Hospital
Dundonald, BT16 1RH
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford, OX3 9DU
Belgium1 site
Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel
Brussels, Anderlecht, 1070
About this study
Official title: Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes 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
- Conditions
- Congenital Myasthenic Syndrome
- Medical subject headings
- Myasthenic Syndromes, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Summary statistics of retrospective and prospective collection of data on diagnosis.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on health care utilization.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on medications.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
Measured: Up to 12 months
Secondary outcomes (7)
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.
Measured: 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.
Measured: 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
Measured: Up to 12 months
Change from baseline for PROMIS-DFL
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.
Measured: Up to 12 months
Change from baseline for EQ-5D-5L
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).
Measured: Up to 12 months
Change from baseline for 3TUG
The Triple Timed Up and Go (3TUG) is an objective measure of mobility requiring 3 repetitions (laps) to assess lower extremity weakness and fatigability.
Measured: Up to 12 months
Change from baseline for Neuro-QoL Fatigue score
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.
Measured: Up to 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Oct 2023
- Study start13 Feb 2024
- Primary completionSep 2027 (estimated)
- Study completionSep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Myasthenic SyndromeStudies of the same condition, open and under way.
- More trials run by argenxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 152 participants (actual)
Sponsor and investigators
- Lead sponsor
- argenx
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06078553
- Sponsor's protocol ID
- ARGX-119-NIS-2301
- Status last verified
- Nov 2026
- First submitted
- 8 Sep 2023
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
- ClinicalTrials.gov ID
- NCT06078553
- Acronym / sponsor ID
- ARGX-119-NIS-2301
- Conditions
- Congenital Myasthenic Syndrome
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 152 participants (actual)
- Lead sponsor
- argenxIndustry (pharma, biotech, devices)
- Study start
- 13 Feb 2024 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2027 (estimated)
- First posted
- 12 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
7 secondary outcomes
Change from baseline for QMG total score, each component score, and raw values
Time frame: Up to 12 months
Change from baseline for MG-ADL total score
Time frame: Up to 12 months
Change from baseline for PROMIS-GHS
Time frame: Up to 12 months
Change from baseline for PROMIS-DFL
Time frame: Up to 12 months
Change from baseline for EQ-5D-5L
Time frame: Up to 12 months
Change from baseline for 3TUG
Time frame: Up to 12 months
Change from baseline for Neuro-QoL Fatigue score
Time frame: Up to 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Study websiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
33 sites in 12 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Myasthenic Syndrome, run by argenx at 33 sites in 12 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 33 sites in United States, France, Germany, Poland, Spain and 7 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Summary statistics of retrospective and prospective collection of data on diagnosis. (time frame: Up to 12 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.