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Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy
Shuaikun Kang1,2,3, Qingqing Wang1,2,3, He Lv1,2,3
1Department of Neurology, Peking University First Hospital, Beijing, China.
Neurology(R) Neuroimmunology & Neuroinflammation
|January 13, 2026
Summary
Complement inhibition therapy showed promising results for dysferlinopathy, a muscular dystrophy. Treatment with eculizumab improved patient strength, mobility, and reduced muscle edema, with sustained benefits observed.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Dysferlinopathy is a severe muscular dystrophy linked to the DYSF gene.
- Current treatments for dysferlinopathy are limited.
- Evidence suggests complement system activation plays a role in dysferlinopathy.
Purpose of the Study:
- To investigate the therapeutic potential of complement inhibition in dysferlinopathy.
- To evaluate the clinical efficacy of eculizumab in a patient with dysferlinopathy.
Main Methods:
- A single case study of a teenager with dysferlinopathy was conducted.
- Muscle biopsy confirmed dysferlin deficiency and C5b-9 deposition.
- The patient received eculizumab treatment for four weeks.
Main Results:
- Significant clinical improvement in muscle strength and function was observed.
- The North Star Assessment for Dysferlinopathy score improved from 28 to 39.
- The 6-minute walk test distance increased from 220m to 363m.
- Muscle MRI showed decreased edema, and benefits were sustained for 13 months.
Conclusions:
- Complement inhibition with eculizumab demonstrated promising clinical benefits in this dysferlinopathy case.
- Further research with larger cohorts is warranted to confirm efficacy and safety.
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