Multicenter, multinational, natural history study in participants with congenital myasthenic syndromes due to mutations in DOK7, MUSK, AGRN, or LRP4

Research summary

This multicenter, multinational, natural history study is designed to retrospectively and prospectively collect clinical data in participants with genetically confirmed DOK7-CMS. No IMP will be administered. Participants will attend up to 3 study visits and complete home digital physical activity monitoring for 1 week after each visit. 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. Approximately 30 male and female participants ≥18 years of age with DOK7-CMS will be enrolled. Each participant will complete up to 3 study visits for approximately 12 months.

Principal Investigator

Dr Jacqueline Palace

Contact us

Email: ana.cavey@ouh.nhs.uk

IRAS number

332752