A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Description

Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.

Conditions

Congenital Myasthenic Syndrome

Talk to us

Study Overview

On this page

Study Details

Study overview

Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.

Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4

A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

Condition
Congenital Myasthenic Syndrome
Intervention / Treatment

-

Contacts and Locations

Sacramento

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center, Sacramento, California, United States, 95816

Chicago

Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital, Chicago, Illinois, United States, 60611

O'Fallon

Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital, O'Fallon, Illinois, United States, 62269

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Can understand the requirements of the study and can provide written informed consent/assent, and willingness and ability to comply with the study protocol procedures
  • * Is male or female and aged ≥2 years at the time of providing informed consent/assent
  • * Has a diagnosis of CMS due to biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4
  • * Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 (applies only to participants aged ≥6 years)
  • * For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening/baseline
  • * Known medical condition that would interfere with an accurate assessment of 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/assent
  • * Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

argenx,

Study Record Dates

2027-06