AUTHOR=Buchinskaya Natalia V. , Isupova Eugenia A. , Vechkasova Anastasia O. , Malekov Damir A. , Ivanov Dmitry O. , Kostik Mikhail M. 

TITLE=Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1252704

DOI=10.3389/fmed.2023.1252704

ISSN=2296-858X

ABSTRACT=A twelve-year-old girl with MPS type I (Gurler-Scheie syndrome, Q70X/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since preclinical stage (6 months old) due to positive family history and started etanercept treatment due to progression of joint pain and decreasing capability to walk. The patient had a significant reduction of the pain in the joints, and the expansion of daily physical activity without adverse events. A decrease in bone marrow edema without foci progression compared to baseline assessment was observed in whole-body MRI. During the treatment (baseline/6 months/12 months): CHAQ index 1.88/2.13/1.63 points; patient's PedsQL: 37/30/31 points; parental PedsQL 26/27/34 points; patient's pain visualanalog scale (VAS) -75/45/40, but did not mother's. JAFAR: 35/34/8 points was observed. A significant reduction in the taking of NSAIDs was observed. In the second half of the year, the nasal breathing has become normal and remission in chronic rhinitis and adenoiditis was achieved (no infection episodes) without otitis episodes. Conclusion: Etanercept in mucopolysaccharidosis type 1 is safe and well tolerated. The reduction of joint pain and increased walking capacity were observed. Decreased number of respiratory infection episodes and nasal breathing improvement were noted during the treatment. The observation shows the role of inflammation in the different aspects of MPS. Further investigations about immune system dysregulation in patients with MPS I are needed. Additional studies on the efficacy and safety of anti-rheumatic biological drugs in patients with MPSI are required.