Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study.

Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L, Lofra, Robert Muni, Mayhew, Anna G, Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C, Darras, Basil T, Day, John, Kichula, Elizabeth A, Mayer, Oscar H, Navas Nazario, Aledie A, Finkel, Richard S, Mercuri, Eugenio and Muntoni, Francesco (2020) Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology. ISSN 1526-632X. Article available in full text to UHB OpenAthens account holders.

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Official URL: https://n.neurology.org/content/early/2020/10/16/W...

Abstract

OBJECTIVE

To describe the respiratory trajectories and their correlation with motor function in an international paediatric cohort of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA).

METHODS

Eight-year retrospective observational study of patients in the iSMAc natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC% predicted (FVC%P.), Non-Invasive ventilation (NIV) requirement. Hammersmith functional motor scale (HFMS) and Revised performance of upper limb (RULM) were correlated with respiratory function. We excluded patients in interventional clinical trials and on Nusinersen commercial therapy.

RESULTS

There were 437 patients with SMA: 348 type 2, 89 non-ambulant type 3. Mean age at first visit was 6.9(±4.4) and 11.1(±4) years. In SMA type 2 FVC%P declined by 4.2%/year from 5 to 13 years, followed by a slower decline (1.0%/year). In type 3 FVC%P declined by 6.3%/year between 8 and 13 years, followed by a slower decline (0.9%/year). 39% SMA type 2 and 9% type 3 required NIV at median age 5.0(1.8-16.6) and 15.1(13.8-16.3) years. 84% SMA type 2 and 80% type 3 had scoliosis, 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM in both subtypes.

CONCLUSIONS

In SMA type 2 and non-ambulant type 3 lung function declines differently, with a common levelling after age 13 years. Lung and motor function correlated in both subtypes. Our data further defines the milder SMA phenotypes and provides novel information to benchmark the long-term efficacy of new treatments for SMA.

Item Type: Article
Additional Information: Article available in full text to UHB OpenAthens account holders.
Subjects: WF Respiratory system. Respiratory medicine
WL Nervous system. Neurology
Divisions: Emergency Services > Neurology
Planned IP Care > Respiratory Medicine
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Depositing User: Mr Philip O'Reilly
Date Deposited: 27 Oct 2020 13:34
Last Modified: 27 Oct 2020 13:34
URI: http://www.repository.uhblibrary.co.uk/id/eprint/3590

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