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

a study on Congenital Myasthenic Syndrome Lambert–Eaton Myasthenic Syndrome

Summary

Eligibility
for people ages 18 years and up (full criteria)
Location
at UC Davis
Dates
study started
completion around

Description

Summary

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.

Official Title

Multicenter, Multinational, Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes

Keywords

Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome, Congenital Myasthenic Syndromes, Syndrome

Eligibility

You can join if…

Open to people ages 18 years and up

  • 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

You CAN'T join if...

  • 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

Locations

  • UC Davis Health - UC Davis Health Midtown Ambulatory Care Center accepting new patients
    Sacramento California 95816 United States
  • Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital accepting new patients
    O'Fallon Illinois 62269 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
argenx
ID
NCT06078553
Study Type
Observational
Participants
Expecting 30 study participants
Last Updated