Congenital Myasthenic SyndromeNCT06078553
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
An observational study of Congenital Myasthenic Syndrome, run by argenx at 33 sites in 12 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Congenital Myasthenic Syndrome
- How many people
- 100 participants
- Where
- 33 sitesin 12 countries
- Study dates
- 13 Feb 2024to Jun 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4 receiving standard of care at their treating physician
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
33 sites in 12 countries. Contact the study team or a site near you to ask about taking part.
33 sites in 12 countries
United States7 sites, 6 recruiting
- Recruiting
Harvard Medical School - Boston Children's Hospital
Boston, Massachusetts, 02115
Partha Ghosh, MD, 857-350-4834, clinicaltrials@argenx.com
+1 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospital
Chicago, Illinois, 60611
Nancy Kuntz, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Ohio State Martha Moorehouse
Columbus, Ohio, 43221
Miriam Freimer, MD, +1 857-350-4834, clinicaltrials@argenx.com
+1 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Hospital Sisters Health System (HSHS) - St Elizabeth's Hospital
O'Fallon, Illinois, 62269
Raghav Govindarajan, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104
John Brandsema, MD, +1 857-350-4834, clinicaltrials@argenx.com
+1 857-350-4834, clinicaltrials@argenx.com
- Active, not recruiting
Mayo Clinic
Rochester, Minnesota, 55905
- Recruiting
UC Davis Health - UC Davis Health Midtown Ambulatory Care Center
Sacramento, California, 95816
Ricardo Marselli, MD, 857-350-4834, clinicaltrials@argenx.com
France6 sites, 6 recruiting
- Recruiting
CHU Bordeaux - Groupe Hospitalier Pellegrin - Neurology
Bordeaux, 33076
Guilhem Sole, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Hospices Civils de Lyon (HCL) - Hopital Pierre Wertheimer - Neurology
Bron, 69500
Francoise Bouhour, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
CHU Lille Hopital Salengro - Neurology
Lille, 59037
Celine Tard, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
CHU Timone
Marseille, 13385
Shahram Attarian, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Assistance Publique Hopitaux de Paris - Hopital Pitie-Salpetriere
Paris, 75013
Guillaume Bassez, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Centre Hospitalier Regional Universitaire de Strasbourg - Hopital de Hautepierre
Strasbourg, 67000
Aleksandra Nadaj-Pakleza, MD, +1 857-350-4834, clinicaltrials@argenx.com
Germany3 sites, 3 recruiting
- Recruiting
Charite - Universitaetsmedizin Berlin
Berlin, 10117
Philipp Mergenthaler, MD, Philipp.Mergenthaler@charite.de
- Recruiting
UKRUB - Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil GmbH
Bochum, 44789
Tobias Ruck, MD, +1 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Universitaetsklinikum Essen (AoR)
Essen, 45147
Adela Della Marina, MD, 857-350-4834, clinicaltrials@argenx.com
Poland3 sites, 2 recruiting
- Recruiting
Medicover Integrated Clinical Services (MICS) Centrum Medyczne Bydgoszcz
Bydgoszcz, 85-065
Lukasz Rzepinski, MD, +1 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Centrum Medyczne Neurologia Slaska - Neurology
Katowice, 40-689
Marek Smilowski, MD, 857-350-4834, clinicaltrials@argenx.com
- Active, not recruiting
Uniwersyteckie Centrum Kliniczne Warszawskiego Uniwersytetu Medycznego
Warsaw, 02-097
Spain3 sites, 3 recruiting
- Recruiting
Hospital Sant Joan de Deu - Pediatric Neurology
Esplugues de Llobregat, 08950
Andres Nascimento Osorio, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Hospital Universitario 12 de Octubre
Madrid, 28041
Cristina Dominguez Gonzalez, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Hospital Universitari i Politecnic La Fe
Valencia, 46026
Nuria Muelas Gomez, MD, 857-350-4834, clinicaltrials@argenx.com
Brazil2 sites, 2 recruiting
- Recruiting
Pseg Centro De Pesquisa ClinicaS.A
São Paulo, 04038-002
Paulo Victor Sgobbi de Souza, MD, +1 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP)
São Paulo, 05403-900
Edmar Zanoteli, MD, +5511975157219, edmar.zanoteli@usp.br
Canada2 sites, 2 recruiting
- Recruiting
The Children's Hospital of Eastern (CHEO), Ottawa
Ottawa, Ontario, K1H8L1
Hanns Lochmuller, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
The Ottawa Hospital - Civic Campus
Ottawa, K1Y 4E9
Hanns Lochmuller, MD, 857-350-4834, clinicaltrials@argenx.com
Japan2 sites, 2 recruiting
- Recruiting
National Center Hospital, National Center of Neurology and Psychiatry
Kodaira, 187-8551
Hirofumi Komaki, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
National Hospital Organization Akita Hospital - Neurology
Yurihonjō, 018-1393
Michio Kobayashi, MD, 857-350-4834, clinicaltrials@argenx.com
United Kingdom2 sites, 2 recruiting
- Recruiting
Ulster Hospital
Dundonald, BT16 1RH
John McConville, MD, 857-350-4834, clinicaltrials@argenx.com
- Recruiting
Oxford University Hospitals NHS Foundation Trust - John Radcliffe Hospital
Oxford, OX3 9DU
Jacqueline Palace, MD, 857-350-4834, clinicaltrials@argenx.com
Austria1 site, 1 recruiting
- Recruiting
Medical University of Vienna
Vienna, 1090
Martin Krenn, MD, 857-350-4834, clinicaltrials@argenx.com
Belgium1 site, 1 recruiting
- Recruiting
Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brussel
Brussels, Anderlecht, 1070
Gauthier Remiche, MD, 857-350-4834, clinicaltrials@argenx.com
Italy1 site, 1 recruiting
- Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, 20133
Lorenzo Maggi, MD, 857-350-4834, clinicaltrials@argenx.com
About this study
Official title: Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4
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.
More information can be found here: https://clinicaltrials.argenx.com/cms
- Conditions
- Congenital Myasthenic Syndrome
- Medical subject headings
- Myasthenic Syndromes, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Summary statistics of retrospective and prospective collection of data on diagnosis.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on health care utilization.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on medications.
Measured: Up to 12 months
Summary statistics of retrospective and prospective collection of data on change in health status related to CMS
Measured: Up to 12 months
Secondary outcomes (7)
Change from baseline for QMG total score, each component score, and raw values
The Quantitative Myasthenia Gravis (QMG) consists of 13 items that assess ocular, bulbar, and limb function. Six of the 13 items are timed endurance tests measured in seconds. Each item has a possible score from 0 to 3, with 3 being the most severe. The total possible score is 39, with higher scores indicating more severe impairments.
Measured: Up to 12 months
Change from baseline for MG-ADL total score
The Myasthenia Gravis Activities of Daily Living (MG-ADL) is an 8-item scale that assesses MG symptoms and their effects on daily activities. The 8 items are rated by the participant on a scale of 0 to 3. The total score can range from 0 to 24, with higher total scores indicating more impairment.
Measured: Up to 12 months
Change from baseline for PROMIS-GHS
The Patient-Reported Outcomes Measurement Information System Global Health Scale (PROMIS-GHS) is a quality-of-life questionnaire that comprises questions on overall physical health, physical function, pain, and fatigue (GPH); and quality of life, mental health, satisfaction with social activities, and emotional problems (GMH). The participant marks their response on a 5-point Likert scale, with lower scores indicating poorer health
Measured: Up to 12 months
Change from baseline for PROMIS-DFL
The Patient-Reported Outcomes Measurement Information System Dyspnea Functional Limitations (PROMIS-DFL) is a questionnaire that evaluates the impact of dyspnea on the ability to perform daily activities within the last 7 days. The participant marks their response on a 4-point scale (0 to 3), with lower values indicating less functional impairment.
Measured: Up to 12 months
Change from baseline for EQ-5D-5L
The EQ-5D-5L questionnaire is a standardized test recognized by many health authorities as a generic measure of health status for clinical and economic appraisal. The descriptive system comprises 5 dimensions: mobility, self-care, usual activities, pain/discomfort, anxiety/depression. Participants mark their health status from 0 (the worst health you can imagine) to 100 (the best health you can imagine).
Measured: Up to 12 months
Change from baseline for 3TUG
The Triple Timed Up and Go (3TUG) is an objective measure of mobility requiring 3 repetitions (laps) to assess lower extremity weakness and fatigability.
Measured: Up to 12 months
Change from baseline for Neuro-QoL Fatigue score
The Quality of Life in Neurological Disorders (Neuro-QoL) Fatigue questionnaire will be completed by participants aged ≥18 years. The Neuro-QoL Pediatric Fatigue questionnaire will be completed by pediatric participants aged ≥12 to <18 years. Participants aged <8 years will be evaluated using the proxy version of the questionnaire.
Measured: Up to 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Oct 2023
- Study start13 Feb 2024
- Primary completionJun 2027 (estimated)
- Study completionJun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Myasthenic SyndromeStudies of the same condition, open and under way.
- More trials run by argenxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- argenx
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06078553
- Sponsor's protocol ID
- ARGX-119-NIS-2301
- Status last verified
- Jul 2026
- First submitted
- 8 Sep 2023
- Last updated
- 25 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No