RECRUITING

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

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Conditions

Congenital Myasthenic Syndrome

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2024-02-13
Study Completion:2027-06
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06078553

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.

Ages Eligible for Study:2 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * 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
  2. * Is male or female and aged ≥2 years at the time of providing informed consent/assent
  3. * Has a diagnosis of CMS due to biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4
  4. * Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 (applies only to participants aged ≥6 years)
  5. * For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening/baseline
  1. * Known medical condition that would interfere with an accurate assessment of CMS, in the investigator's opinion
  2. * Is currently participating in any interventional clinical study with a study drug at the time of providing informed consent/assent
  3. * Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4

Contacts and Locations

Study Contact

Sabine Coppieters, MD
CONTACT
857-350-4834
clinicaltrials@argenx.com

Study Locations (Sites)

UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, 95816
United States
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, 60611
United States
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, 62269
United States

Collaborators and Investigators

Sponsor: argenx

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-02-13
Study Completion Date2027-06

Study Record Updates

Study Start Date2024-02-13
Study Completion Date2027-06

Terms related to this study

Additional Relevant MeSH Terms

  • Congenital Myasthenic Syndrome