Cellular immune endophenotypes separating early and late-onset myasthenia gravis
Citation and access
Citation and access
Data access level:
Creator/Principal investigator(s):
Research principal:
Data contains personal data:
Yes
Type of personal data:
Single-cell RNA sequencing data that theoretically can be associated to an individual through the individually unique combination of normal genetic variants. The data is also pseudonymised.
Code key exists:
Yes
Sensitive personal data:
Yes
Citation:
Language:
Method and outcome
Method and outcome
Unit of analysis:
Population:
Patients with myasthenia gravis without ongoing immunomodulating treatments but of whom 5/16 have undergone a thymectomy.
Time method:
Study design:
- Observational study
- Experimental study
- Diagnostic study
Sampling procedure:
Description of sampling:
Samples were selected through availability from an existing biobank of myasthenia gravis patient samples.
Time period(s) investigated:
Samples/material - Existing from scientific collection/biobank
Samples/material - Existing from scientific collection/biobank
Name:
Type(s) of sample:
Geographic coverage
Geographic coverage
Geographic location:
Geographic description:
The samples have all been collected at the Karolinska University Hospital Neurology department.
Administrative information
Administrative information
Responsible department/unit:
Department of Clinical Neuroscience [K8]
Other research principals:
Commissioning organisation:
- Karolinska Institutet
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Ethics Review:
Swedish Ethical Review Authority - 2024-02236-02
Funding
Funding
Funding agency:
- Swedish Research Council
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Award number:
2023-00533_VR
Award title:
Characterization and optimization of myasthenia gravis care
Funding information:
Myasthenia gravis (MG; OrphaCode 391490; ICD-10 G70.0) is a chronic autoimmune disease affecting neuromuscular signal transmission, with an estimated prevalence of 15 to 25 per 100.000. Disease severity varies from milder forms with potential for long-term remission to severe life-threatening disease. Clinical management is still mainly based on empirical evidence, with a scarcity of reliable clinical predictors or biomarkers for disease sub-form stratification and long-term outcomes. As a consequence, treatment practices vary both within and between countries. We will here perform a nationwide registry linkage study in Sweden to establish more precise prevalence/incidence rates and candidate clinical predictors of long-term outcomes, also including patient-reported outcomes and epidemiological questionnaire data. These findings will be corroborated, extended and cross-compared in large and well-characterized cohorts from 5 countries across Europe reflecting different geographic areas, patient populations and treatment practices. Finally, using advanced immunological methods we will identify novel immunological markers for MG sub-form characterization and disease severity prediction to be validated in a multicenter prospective, observational study of new onset MG. The knowledge thus gained has the potential to change treatment practices with currently available interventions and to be informative for future intervention studies.
