At a glance
- What the study gets you
- Health checks and monitoring — no treatment given
- Type of study
- Observational (no treatment given)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- Not specified by the sponsor
- How long the study runs
- Study runs about 40 months (dates as stated)
- About the drug or intervention
- Not specified by the sponsor
- Patient visit burden
- "Participants will attend up to 4 study visits to collect clinical assessments." (as stated by sponsor)
In plain English
This is a natural history study for people with congenital myasthenic syndrome (CMS) caused by changes in certain genes: DOK7, MUSK, AGRN or LRP4. A natural history study means researchers observe and gather information over time without giving a treatment. It is funded by argenx.
Who can take part
- Aged 2 or older
- Diagnosed with CMS caused by changes in the DOK7, MUSK, AGRN or LRP4 genes
- Able to understand the study and give written consent (or assent for children), and willing to follow the study procedures
- If aged 6 or older, a Quantitative Myasthenia Gravis (QMG) test score of 3 or more
- If taking certain medicines called beta agonists (such as salbutamol or ephedrine), you must have been taking them for at least 3 months before joining
Who may not be able to
- CMS caused by a change in any gene other than DOK7, MUSK, AGRN or LRP4
- Another medical condition that, in the researcher's view, would make it hard to assess your CMS accurately
- Currently taking part in another study that tests a drug
What taking part involves
- • No treatment is given — this study only collects information about your condition over time (a natural history study)
Time commitment: Not stated — ask the trial team about visits, duration, and what taking part involves.
Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.
- Type of study
- Observing health over time
- Ages
- 2 Years and over
- Who
- All
- Number of participants
- 100
- Started
- 2024-02-13
- Last checked
- 2026-07
Plain English Summary
What is this study?
- • Testing a new treatment for congenital myasthenic syndrome
- • Clinical study - 100 participants
- • Participants will attend up to 4 study visits to collect clinical assessments
Who can take part?
- • Ages 2 Years and over
- • Diagnosed with congenital myasthenic syndrome
Where?
- • Dundonald - Ulster Hospital
- • Oxford - Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
This is a simplified summary. Always discuss with your doctor before making any decisions.
About This Trial
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
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: 2 Years and over
- Who can join: All genders
Treatment history
Treatments you must have had:
- ✓ been receiving the medication for ≥3 months
What the study is looking for
- ✓Can understand the requirements of the study and can provide written agreement to take part/assent, and willingness and...
- ✓Is male or female and aged ≥2 years at the time of providing agreement to take part/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...
Who cannot take part
- ✗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 the study treatment at the time of providing informed...
- ✗Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4
See the full criteria
Where Is This Study? (2 UK sites)
Ulster Hospital
Dundonald BT16 1RH, United Kingdom
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford OX3 9DU, United Kingdom
How to Get in Touch
Sabine Coppieters, MD
Sponsor contactCONTACT