NIPH Clinical Trials Search

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

Basic Information

Recruitment status	Recruiting
Health condition(s) or Problem(s) studied	Congenital Myasthenic Syndromes
Date of first enrollment	17/02/2026
Target sample size
Countries of recruitment	Austria,Japan,Brazil,Japan,Belgium,Japan,Canada,Japan,Germany,Japan,France,Japan,Italy,Japan,Poland,Japan,Spain,Japan,United Kingdom,Japan,United States,Japan
Study type	Observational
Intervention(s)

Outcome(s)

Primary Outcome	Summary statistics of retrospective and prospective collection of data on diagnosis (including age at symptom onset, age at diagnosis, and pathogenic mutations in DOK7, MUSK, AGRN, or LRP4); health care utilization; medications; and change in health status related to CMS
Secondary Outcome

Key inclusion & exclusion criteria

Age minimum	>= 2age old
Age maximum	Not applicable
Gender	Both
Include 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
Exclude 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