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

Congenital Myasthenic Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06078553
• Other study ID #: ARGX-119-NIS-2301
• Status: Recruiting
• Start date: February 13, 2024
• Est. completion date: July 2025

Study information

• Verified date: June 2024
• Source: argenx
• Contact: Sabine Coppieters, MD
• Phone: 857-350-4834
• Email: clinicaltrials[@]argenx.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: July 2025
• Est. primary completion date: July 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
Canada	The Ottawa Hospital - Civic Campus	Ottawa
France	CHU Timone	Marseille
France	Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere	Paris
Italy	Fondazione IRCCS Istituto Neurologico Carlo Besta	Milan
Spain	Hospital Universitari i Politecnic La Fe	Valencia
United Kingdom	Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital	Oxford
United States	Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital	O'Fallon	Illinois

Sponsors (1)

Lead Sponsor	Collaborator
argenx

Countries where clinical trial is conducted

United States,  Canada,  France,  Italy,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Summary statistics of retrospective and prospective collection of data on diagnosis.		Up to 12 months
Primary	Summary statistics of retrospective and prospective collection of data on health care utilization.		Up to 12 months
Primary	Summary statistics of retrospective and prospective collection of data on medications.		Up to 12 months
Primary	Summary statistics of retrospective and prospective collection of data on change in health status.		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for Quantitative Myasthenia Gravis total score, each component score, and raw values		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for Myasthenia Gravis Activities of Daily Living total score		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for Patient-Reported Outcomes Measurement Information System Global Health Scale		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for Patient-Reported Outcomes Measurement Information System Dyspnea Functional Limitations		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for EQ-5D-5L		Up to 12 months
Secondary	At each applicable time point, the absolute value and change from baseline for Timed Up and Go		Up to 12 months