Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench scientist for six years in the field of neuroscience before embarking on a career in science communication. She worked as the research communication officer at MDUK, a UK-based charity that supports people living with muscle-wasting conditions, and then a research columnist and the managing editor of resource pages at BioNews Services before joining Rare Disease Advisor.
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease affecting an estimated 1 in 6000 to 1 in 10,000 live births. The carrier frequency of the disease is estimated at 1 in 40 to 1 in 60.1 It is the second most common cause of infant death from an autosomal recessive disorder, after cystic fibrosis.1,2
The first consensus statement for standard of care in SMA was published in 2007 to provide patients with the best possible care to improve their quality of life and life expectancy.3 In 2017, an updated version of the standard of care in SMA was published.
Previous Standards of Care in SMA
Before the publication of the first consensus statement, the care for SMA patients did not match the progress in the understanding of the molecular pathogenesis of the disease. This meant that there were variations in medical practice, which resulted in variable clinical outcomes.4
With the aim of establishing practice guidelines for the clinical care of SMA patients, an international standard of care committee for SMA was formed in 2005. The committee developed a consensus on 5 care areas: diagnostic and new interventions, pulmonary care, gastrointestinal and nutritional treatments, orthopedics and rehabilitation, and palliative care. The consensus statement addressing these areas was developed based on 3 patient groups: nonsitters, sitters and walkers. Clinicians, patient representatives, and pharmaceutical companies widely adopted the statement.
At a European Neuromuscular Centre International Workshop held in the Netherlands in 2016, 26 experts and patient representatives agreed that although many aspects of SMA care had improved dramatically, an update of the 2007 consensus statement was necessary due to an improved understanding of the natural history of SMA, advancements in medical care, and an increased number of clinical trials.
Updated Care Standards in SMA
The updated standard of care in SMA was published in 2017.5,6 It was developed by a multidisciplinary committee of international experts led by Professors Richard Finkel and Eugenio Mercuri. The committee worked with experts in the field through conference calls, e-mail communications, in-person meetings, and a Delphi survey, a series of questionnaires that allow experts to develop ideas about potential future developments around a specific issue.
The 2017 standard of care consists of 2 parts that address 9 key areas of care from diagnosis, rehabilitation, orthopedic, and nutritional care to pulmonary and acute care, as well as medications, supplements, and immunizations. It also includes new topics such as emergency care, other organ involvement, and ethics.
The papers also provided a review of recent literature and expert opinion in areas where there was not enough published evidence.
Guiding Patients and Families
Researchers, doctors, and patient representatives affiliated with 4 nonprofit organizations (Spinal Muscular Atrophy UK, Cure SMA, SMA Europe, Muscular Dystrophy UK, and TREAT-NMD) produced a medical guide for SMA patients and their families based on the 2017 standards of care.7 The comprehensive guide aims to make available the latest medical care standards to all people affected by SMA.
The patient guide covers 11 main areas and includes genetics and diagnosis, physiotherapy and rehabilitation, orthopedic management, nutrition, growth and bone health, breathing (respiratory and pulmonary care), other organs and systems, medication, emergency care, anesthetics, administration of new treatments for SMA, and ethics and choices.
Patients and caregivers can use the family guide to find out about the care they may expect to receive and allow them to have active discussions with their medical care team about how to manage the condition and the options and choices available to them.
The recommendations made in the guide take into account the differences in resources among different countries and make recommendations based on the minimal care and support that a patient with SMA should receive, regardless of where they live.
Reviewed by Michael Sapko, MD on 7/1/2021
- D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;2;6:71. doi:10.1186/1750-1172-6-71
- Spinal muscular atrophy (SMA). Boston Children’s Hospital. Accessed May 30, 2021.
- CH Wang, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-49. doi:10.1177/0883073807305788
- Previous standards of care for spinal muscular atrophy (SMA) 2007. Treat-NMD. Accessed May 30, 2021.
- Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115. doi:10.1016/j.nmd.2017.11.005
- Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207. doi:10.1016/j.nmd.2017.11.004
- A guide to the 2017 International Standards of Care for SMA. Treat-NMD. Accessed May 30, 2021.