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

argenx

Status: Enrolling

Conditions: Congenital Myasthenic Syndrome

Study type: Observational

Funder types: Industry

Identifiers

NCT06078553

ARGX-119-NIS-2301

Details and patient eligibility

About

Participants will attend up to 3 study visits to collect clinical assessments. 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.

Enrollment: 30 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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