Obs study in patients with DOK7 congenital myasthenic syndromes
Research type
Research Study
Full title
Multicenter, multinational, natural history study in participants with DOK7 congenital myasthenic syndromes
IRAS ID
332752
Contact name
Jaqueline Palace
Contact email
Sponsor organisation
argenx BV
Clinicaltrials.gov Identifier
Duration of Study in the UK
1 years, 3 months, 24 days
Research summary
This study is focused on males and females aged 18 plus who have DOK7 congenital myasthenic syndromes (DOK7-CMS).
The congenital myasthenic syndromes (CMS) are a diverse group of disorders that have an underlying defect in the transmission of signals from nerve cells to muscles. These disorders are characterised by muscle weakness, which is worsened upon exertion. DOK7 is a type of CMS caused by mutations (changes) in a gene called DOK7. Because of the rarity of the disease, there is a lack of published natural history data.
No treatment is currently approved by any global health authority for the treatment of CMS, and CMS symptoms are managed in a subset of patients through the off-label use of therapies. Thus, there is a need to develop therapies for patients with CMS.
The study is designed to collect clinical data from participants in order to help us understand the demographic and clinical characteristics of DOK7-CMS. 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.
No study drug will be administered during this study and participants will continue to undertake their usual standard of care.
The study will include about 30 participants worldwide. 2 NHS sites will undertake the study in the UK.
Participants will be in the study for approx 12 months.
Patient participation will involve:
•Answering questions about health and medications.
•2 physical tests that measure muscle fatigue, weakness & mobility.
•Speech assessment
•4 questionnaires about symptoms, daily life, and physical and mental health.
•1 blood sample if medical records do not already contain genetic test information.
•4 optional blood samples
•Wearing activity monitors for 1 week after each visit which will measure movements. One device is a pendant worn around the neck and the other devices are worn on the wrists.
•Completing a questionnaire at home, once per month to answer questions about symptoms and daily life.REC name
South West - Central Bristol Research Ethics Committee
REC reference
23/SW/0144
Date of REC Opinion
4 Dec 2023
REC opinion
Favourable Opinion