Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

BackgroundRecessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research questionWhat is the impact of nucleosides in respiratory function in patients with...

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Published in:BMJ open respiratory research 2020-11, Vol.7 (1), p.e000774
Main Authors: Hernandez-Voth, Ana, Sayas Catalan, Javier, Corral Blanco, Marta, Castaño Mendez, Alba, Martin, Miguel Angel, De Fuenmayor Fernandez de la Hoz, Carlos, Villena Garrido, Victoria, Dominguez-Gonzalez, Cristina
Format: Article
Language:English
Subjects:
Age
Disease
Dysphagia
Neuromuscular diseases
Non-Invasive Ventilation
Oxygen therapy
Patients
rare lung diseases
respiratory muscles
Software
Spirometry
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Summary:BackgroundRecessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research questionWhat is the impact of nucleosides in respiratory function in patients with TK2-deficient myopathy?Study design and methodsRetrospective observational study of patients treated with deoxycytidine and deoxythymidine. Evaluations were performed every 3 to 4 months after treatment during approximately 30 months. Forced vital capacity (FVC), maximuminspiratory and expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), cough peak flow (CPF), arterial blood gas and nocturnal pulse oximeter (SpO2) were collected.ResultsWe studied six patients, five of which were women, with a median age at onset of symptoms was 35.8 (range 5 to 60) years old. Patients presented a restrictive ventilatory pattern (median FVC of 50 (26 to 71)%) and severe neuromuscular respiratory weakness (MIP 38 (12 to 47)% and SNIP 14 (8 to 19) cmH2O). Four patients required ventilatory support before starting the treatment. FVC improved by 6%, proportion of sleep time with SpO2
ISSN:2052-4439
2052-4439
DOI:10.1136/bmjresp-2020-000774