Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, Nens van Alfen, Floris E A Udink Ten Cate, Frederik M A van den Heuvel, Robin Nijveldt, Willem C M van Tilburg, Stan C F M Buckens, Anne T M Dittrich, Jos M T Draaisma, Mirian C H Janssen, Erik-Jan Kamsteeg, Esmee S B van Kleef, Saskia Koene, Jan A M Smeitink, Benno Küsters, Florence H J van Tienen, Hubert J M Smeets, Baziel G M van Engelen, Corrie E Erasmus, Nicol C Voermans, Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, Nens van Alfen, Floris E A Udink Ten Cate, Frederik M A van den Heuvel, Robin Nijveldt, Willem C M van Tilburg, Stan C F M Buckens, Anne T M Dittrich, Jos M T Draaisma, Mirian C H Janssen, Erik-Jan Kamsteeg, Esmee S B van Kleef, Saskia Koene, Jan A M Smeitink, Benno Küsters, Florence H J van Tienen, Hubert J M Smeets, Baziel G M van Engelen, Corrie E Erasmus, Nicol C Voermans

Abstract

Background: SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the LAMA2 gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with either a severe, early-onset due to complete Laminin subunit α2 deficiency (merosin-deficient congenital muscular dystrophy type 1A (MDC1A)), or a mild, childhood- or adult-onset due to partial Laminin subunit α2 deficiency. For both muscle diseases, no curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data and appropriate clinical and functional outcome measures are needed to reach trial readiness.

Methods: LAST STRONG is a natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM or LAMA2-MD, starting August 2020. Patients have four visits at our hospital over a period of 1.5 year. At all visits, they undergo standardized neurological examination, hand-held dynamometry (age ≥ 5 years), functional measurements, questionnaires (patient report and/or parent proxy; age ≥ 2 years), muscle ultrasound including diaphragm, pulmonary function tests (spirometry, maximal inspiratory and expiratory pressure, sniff nasal inspiratory pressure; age ≥ 5 years), and accelerometry for 8 days (age ≥ 2 years); at visit one and three, they undergo cardiac evaluation (electrocardiogram, echocardiography; age ≥ 2 years), spine X-ray (age ≥ 2 years), dual-energy X-ray absorptiometry (DEXA-)scan (age ≥ 2 years) and full body magnetic resonance imaging (MRI) (age ≥ 10 years). All examinations are adapted to the patient's age and functional abilities. Correlation between key parameters within and between subsequent visits will be assessed.

Discussion: Our study will describe the natural history of patients diagnosed with SELENON-RM or LAMA2-MD, enabling us to select relevant clinical and functional outcome measures for reaching clinical trial-readiness. Moreover, our detailed description (deep phenotyping) of the clinical features will optimize clinical management and will establish a well-characterized baseline cohort for prospective follow-up.

Conclusion: Our natural history study is an essential step for reaching trial readiness in SELENON-RM and LAMA2-MD.

Trial registration: This study has been approved by medical ethical reviewing committee Region Arnhem-Nijmegen (NL64269.091.17, 2017-3911) and is registered at ClinicalTrial.gov ( NCT04478981 ).

Keywords: All ages; LAMA2; Laminin subunit α2 deficiency; Merosin-deficient congenital muscular dystrophy type 1A (MDC1A); Natural history; Outcome measures; SELENON; SEPN1; Trial readiness.

Conflict of interest statement

Professor Jan A.M. Smeitink is Chief Executive Officer of Khondrion. All other authors declare that they have no competing interests.

© 2021. The Author(s).

Figures

Fig. 1
Fig. 1
Flow chart of recruitment and inclusion of SELENON-RM or LAMA2-MD patients

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