RecruitingNot Applicable

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

United States, Austria, Belgium100 participantsStarted 2024-02-13

Plain-language 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. More information can be found here: https://clinicaltrials.argenx.com/cms

Who can participate

Age range

2 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: Up to 12 months

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

Timeframe: Up to 12 months

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

Timeframe: Up to 12 months

Summary statistics of retrospective and prospective collection of data on change in health status related to CMS

Timeframe: Up to 12 months

Trial details

NCT IDNCT06078553

Sponsorargenx

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2027-06

Contact for this trial

Sabine Coppieters, MD

857-350-4834 clinicaltrials@argenx.com

View on ClinicalTrials.gov More Congenital Myasthenic Syndrome trials

Plain-language summary

Who can participate

Age range

2 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

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

Timeframe: Up to 12 months

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

Timeframe: Up to 12 months

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

Timeframe: Up to 12 months

Summary statistics of retrospective and prospective collection of data on change in health status related to CMS

Timeframe: Up to 12 months