Spinal muscular atrophy (SMA) experts and patient representatives concede they have a long way to go in updating a consensus document on SMA standards of care.
Their report, “218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016,” recently appeared in the journal Neuromuscular Disorders.
The event brought together 26 researchers and drug company representatives from the United States, France, Germany, Great Britain, Spain, Sweden, Switzerland and the Netherlands. Also in attendance was one SMA patient as well as officials from SMA Europe and the New York-based SMA Foundation.
The initial consensus statement on SMA standards of care, published in 2007, covered five areas: diagnostics and new interventions; pulmonary care; nutritional issues; orthopedic care and rehabilitation; and palliative care.
Since then, SMA research has led to improvements in the management of scoliosis, nutrition and breathing support. These advances prompted researchers and patient advocacy groups to organize a new workshop to update the statement document.
The group — led by Richard Finkel of Nemours Children’s Hospital in Orlando, Florida — discussed issues ranging from diagnostic procedures to palliative care. Also on the agenda was orthopedics and rehabilitation, the involvement of other organ systems in SMA, acute hospital-based care, and medication.
Much of the workshop covered standards of care in relation to how the natural history of SMA has evolved over time. For infants with type 1 disease, the group concluded that prolonged survival — with the help of nutritional and ventilation support — has not improved motor development. In patients with less severe disease types, evidence suggests that standard of care does affect disease progression.
The workshop paid particular attention to care for adults as well as women’s issues. Adults with SMA might have difficulties in accessing appropriate care if they cannot speak for themselves. In addition, as more SMA patients reach adulthood, pregnancy also becomes an issue requiring specific attention, panelists said.
The group also decided to conduct a separate survey on the use of drugs commonly used to manage SMA, while continuing work on topics not covered in the meeting, including dental care, pregnancy and sexuality.