Clinical trial NCT06078553: A Natural History Study in Participants With Congenital Myasthenic Syndromes (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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Myasthenic Syndrome
Lead sponsor: argenx
Sponsor class: INDUSTRY
First posted: 2023-10-12
Enrollment: 100
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician

Brief summary: 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.


Eligibility criteria: Inclusion 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

Exclusion Criteria:

* 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

Primary outcomes:
measure: Summary statistics of retrospective and prospective collection of data on diagnosis.
timeFrame: Up to 12 months
measure: Summary statistics of retrospective and prospective collection of data on health care utilization.
timeFrame: Up to 12 months
measure: Summary statistics of retrospective and prospective collection of data on medications.
timeFrame: Up to 12 months
measure: Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
timeFrame: Up to 12 months
Secondary outcomes:
measure: Change from baseline for QMG total score, each component score, and raw values
timeFrame: Up to 12 months
measure: Change from baseline for MG-ADL total score
timeFrame: Up to 12 months
measure: Change from baseline for PROMIS-GHS
timeFrame: Up to 12 months
measure: Change from baseline for PROMIS-DFL
timeFrame: Up to 12 months
measure: Change from baseline for EQ-5D-5L
timeFrame: Up to 12 months
measure: Change from baseline for 3TUG
timeFrame: Up to 12 months
measure: Change from baseline for Neuro-QoL Fatigue score
timeFrame: Up to 12 months
Other outcomes:
Locations:
city: Sacramento
country: United States
facility: UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
state: California
city: Chicago
country: United States
facility: Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
state: Illinois
city: O'Fallon
country: United States
facility: Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
state: Illinois
city: Ottawa
country: Canada
facility: The Ottawa Hospital - Civic Campus
city: Marseille
country: France
facility: CHU Timone
city: Paris
country: France
facility: Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
city: Milan
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta
city: Valencia
country: Spain
facility: Hospital Universitari i Politecnic La Fe
city: Dundonald
country: United Kingdom
facility: Ulster Hospital
city: Oxford
country: United Kingdom
facility: Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Study officials:
References: