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Congenital Myasthenic Syndrome

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

Sponsored by argenx

About this trial

Last updated 2 years ago

Study ID

ARGX-119-NIS-2301

Status

Not yet recruiting

Type

Observational

Placebo

No

Accepting

18-75 Years
18+ Years
All
All

Not accepting

Not accepting
Healthy Volunteers

Trial Timing

Started 2 years ago

What is this trial about?

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.

What are the participation requirements?

Yes

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

No

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