Revising the Standards of Care in Spinal Muscular Atrophy

Nancy L. Kuntz, MD: Well, maybe now would be a time to move on and talk a little bit about the experience that we’ve all had collectively around the country. Some wonderful efforts have gone into pooling experience between different centers, and I know that at least twice—first in 2007 and more recently an international effort in 2018—we pulled together experts or people who spend a lot of time thinking about and treating children with spinal muscular atrophy [SMA], to pool their experience. The 1 thing that I think we can all agree on is that a multidisciplinary approach with people who have expertise in different areas really benefits these children.

Although it appears that the motor neurons take the biggest hit, and therefore weakness is the biggest single problem that the children with spinal muscular atrophy have, it’s very, very clear that weakness affects the different organ systems differently. As it affects the bulbar muscles, that affects issues of swallow and speaking. And as it affects the respiratory muscles, then we have the whole issue of adequate ventilation and need for pulmonology support. But it’s a very complex thing. I think that you were very involved in this, Basil.

Basil Darras, MD: Yes. I remember that there was a meeting at NIH [the National Institutes of Health] back in 2005, 2006, and that was the time when there was a lot of energy going into SMA research and the development of therapeutics for SMA. And we realized that for many years we were following patients without actually having any standards of care. And a decision was made during that meeting to develop standards of care by having meetings and conference calls to discuss the different aspects of care and try to come to a consensus as far as standards of care for SMA are concerned.

So that led, as you said, to publication in 2007 in the Journal of Child Neurology. And for many years we tried to follow the standards of care, although I have to say that there are probably many centers around the country or around the world that maybe they did not follow the standards of care very, very strictly, but at least was a guideline to allow physicians taking care of kids with SMA to try to address some of those aspects of care. With the developing therapeutics, so-called supportive care became even more aggressive and given that, we’re expecting these patients to live longer, and things have changed over time.

For example, surgical procedures for the correction of scoliosis have changed, and I think pulmonary care has become more aggressive. So it became clear around 2016 that we actually had to revisit the standards of care, which led to a workshop in Europe by the European Neuromuscular Centre, which led again to development of new standards of care—I would say updated standards of care for SMA. This led to the publication, in fact, of 2 papers in Neuromuscular Disorders in 2018, which described the discussions around the standard of care, which were multidisciplinary, as you said.

Nancy L. Kuntz, MD: And I think 1 of the things that’s helpful to remember is that these consensus standards helpful for not only providing good care for the children with spinal muscular atrophy but creating more of a level playing field. Because if we’re going to have the children be entered with this rare disorder into treatment trials, it’s going to be very helpful to have similar kinds of support over time. So that they’re more similar than not as they approach this. I could recall very distinctly at some of the Cure SMA meetings, the recognition that good nutrition for some of the animal models could not serve as a placebo because it actually influenced the outcome in both animal models. And then as we revisited this back with the children, making sure that they had good nutrition was something that affected their well-being in a very major way.

But obviously, we clearly have, as part of the standards of care, the concept that nutrition, whatever it takes to make sure that the children are growing reasonably and have good nutrition is important. But also all the standards of pediatric care that are reasonable, including vaccinations and other preventive measures, make a big difference.