Natural History Study in DOK7-Congenital Myasthenic Syndromes (CMS)
Multicenter, Multinational, Natural History Study in Participants with DOK7-Congenital Myasthenic Syndrome (CMS)
The results from this study will be used to inform an Upcoming Phase 1b Interventional Study in CMS: www.clinicaltrials.gov NCT06436742
About CMS
CMS are a heterogenous collection of genetic diseases that typically present in the first decade of life but often are either undiagnosed for decades or misdiagnosed1.
About The Study
A natural history observational study evaluating participants' symptoms and quality of life to better understand disease activity in patients with DOK7-CMS.
Eligibility
Understand the inclusion/exclusion criteria of the study and the profile of the participant population.
About CMS
CMS are a clinically diverse collection of genetic diseases that typically present with muscle weakness in the first decade of life, but often are either undiagnosed for prolonged periods, or misdiagnosed. Up to 94% of those diagnosed with CMS as adults were misdiagnosed with other conditions, most commonly with seronegative myasthenia gravis.1
CMS can be classified as pre-synaptic, synaptic and post-synaptic depending on the genetic defects affecting proteins at the neuromuscular junction.2 The majority of CMS is caused by defects in the post-synaptic proteins, such as DOK7, which is a signaling protein. The course of the disease, including response to treatment can be dependent on whether the mutation is in the pre-synaptic, synaptic, or post-synaptic proteins at the neuromuscular junction.3
A Prospective Longitudinal Study
Study goal: To collect data to provide a detailed view that characterizes the natural course of CMS over time
There is limited data on the early presentation to diagnosis, and course of disease,
in a homogenous population of adults with the DOK7 mutation of CMS.1 The data collected
can provide a real-world understanding of DOK7-CMS to help inform the future design of
clinical studies for potential new therapies to treat it.
After completing screening, eligible participants with DOK7-CMS will be followed
by investigators for up to 12 months, collecting data and feedback on symptoms,
treatment and healthcare resource utilization.
There will be no study drug or intervention given to the participants,
the investigators will be observing participants as they receive their specialists’
recommended treatment for their CMS.
Hanns Lochmüller, Senior Scientist, CHEO Research Institute Professor of Neurology, University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine shares insights about CMS
About The Study
OTHER RESEARCH
References:
1. Kao JC, et al. “Congenital myasthenic syndromes in adult neurology clinic”, Neurology 2018;91:e1770-e1777.
2. Jagtap, et al. ‘Congenital myasthenic syndrome’, Ann Indian Acad of Neurol, 2013; 16: 3, pp.338-341.
3. Finsterer J. “Congenital Myasthenic Syndromes”, Orphanet Journal of Rare Diseases 2019; 14:57.
4. https://clinicaltrials.gov/study/NCT06078553
5. https://clinicaltrials.gov/study/NCT06436742
Phase 1B Interventional Study
A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)
The purpose of this study is to assess the safety and tolerability of ARGX-119 in adult participants with DOK7-Congenital Myasthenic Syndromes. The study will also assess the pharmacokinetics and immunogenicity of ARGX-119 and how it may improve the way patients feel and function
Key Eligibility Criteria
Inclusion Criteria*
At least 18 years of age
Has a genetically confirmed diagnosis of DOK7-CMS
Participants taking oral beta agonists (e.g., albuterol, salbutamol, ephedrine) must have been receiving the medication for >3 months
Exclusion Criteria*
Diagnosis of CMS due to mutation of any gene other than DOK7
Known medical condition that would interfere with an accurate assessment of CMS
History of malignancy, cancer, unless no evidence of recurrence for >5 years, with the exception of Basal cell or squamous cell skin cancer, Carcinoma in situ of the cervix or breast, incidental histological findings of prostate cancer
* Other criteria apply
Please visit www.clinicaltrials.gov NCT06436742 for more information about the study, including the full inclusion and exclusion criteria.
CMS Quality of Life Study
An interview study to understand more about the symptoms and their impact on people diagnosed with DOK7-CMS. Participants with DOK7-CMS will choose to take part in virtual interviews to capture their experience with CMS utilizing two questionnaires (MG-ADL & MGII).
Research in DOK7-CMS
Download an educational infograph for patients on the differences between CMS and MG, and comparing an observational (natural history) study to an interventional study
Learn about contributing to research in CMS and research opportunities for your patients with CMS
ARGX-119-NIS-2301 Study_HCP Website_CMS_V2_30 September 2024
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