Trial Title:
A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)
NCT ID:
NCT06078553
Condition:
Congenital Myasthenic Syndrome
Conditions: Official terms:
Lambert-Eaton Myasthenic Syndrome
Myasthenic Syndromes, Congenital
Syndrome
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Other
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.
Criteria for eligibility:
Study pop:
Patients with DOK7 CMS receiving standard of care at their treating physician
Sampling method:
Non-Probability Sample
Criteria:
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
Gender:
All
Minimum age:
18 Years
Maximum age:
N/A
Healthy volunteers:
No
Locations:
Facility:
Name:
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Address:
City:
Sacramento
Zip:
95816
Country:
United States
Status:
Recruiting
Contact:
Last name:
Ricardo Marselli, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Address:
City:
Chicago
Zip:
60611
Country:
United States
Status:
Recruiting
Contact:
Last name:
Nancy Kuntz, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
Address:
City:
O'Fallon
Zip:
62269
Country:
United States
Status:
Recruiting
Contact:
Last name:
Raghav Govindarajan, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
The Ottawa Hospital - Civic Campus
Address:
City:
Ottawa
Zip:
K1Y 4E9
Country:
Canada
Status:
Recruiting
Contact:
Last name:
Hanns Lochmuller, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
CHU Timone
Address:
City:
Marseille
Zip:
13385
Country:
France
Status:
Recruiting
Contact:
Last name:
Shahram Attarian, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Address:
City:
Paris
Zip:
75013
Country:
France
Status:
Recruiting
Contact:
Last name:
Guillaume Bassez, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Fondazione IRCCS Istituto Neurologico Carlo Besta
Address:
City:
Milan
Zip:
20133
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Lorenzo Maggi, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Hospital Universitari i Politecnic La Fe
Address:
City:
Valencia
Zip:
46026
Country:
Spain
Status:
Recruiting
Contact:
Last name:
Nuria Muelas Gomez, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Ulster Hospital
Address:
City:
Dundonald
Zip:
BT16 1RH
Country:
United Kingdom
Status:
Recruiting
Contact:
Last name:
John McConville, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Facility:
Name:
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Address:
City:
Oxford
Zip:
OX3 9DU
Country:
United Kingdom
Status:
Recruiting
Contact:
Last name:
Jacqueline Palace, MD
Phone:
857-350-4834
Email:
clinicaltrials@argenx.com
Start date:
February 13, 2024
Completion date:
July 2025
Lead sponsor:
Agency:
argenx
Agency class:
Industry
Source:
argenx
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT06078553
