Nancy L. Kuntz, MD: I’d like to end with some comments, and I’d like to give everybody an opportunity. I think maybe 1 of the things is if there are any last thoughts, but also if there’s any advice that you’d like to give to community neurologists who will deal with this in the real world in their communities. Let me start with you, Liz.
Elizabeth Kichula, MD, PhD: I think the critical factor here is really early diagnosis. As we talk about all the treatments, they all show better effect with earlier treatment. Once the motor neurons are dead, we don’t have anything currently that can bring them back. So really having a low threshold to send the genetic testing to proceed with additional testing, keeping it in the back of your mind kind of moving forward, I think is probably the most important thing going ahead.
I think the treatments are all, at this point, very intensive. Certainly nusinersen, because of all the intrafecal injections, and I imagine that should AVXS-101 get approval, there will likely kind of be lots of insurance hurdles and other things that may be difficult to do in the community. But really reach out to the experts who you have around to set up a good relationship, because those urgent referrals when they come in are the patients who really need to get seen that week, to start things moving as quickly as possible.
Build up those relationships, because some of these things are difficult to do in large institutions like we’re all at, and it can be next to impossible to do in smaller places. I think really work as a team together, and we’ve done this a lot, when we have a local neurologist but then we also chime in. The frequency of how you work together may change over time, but I think that type of model system for some of these rare diseases can work really well moving ahead.
Nancy L. Kuntz, MD: I think when there isn’t a treatment pending on the other end, there’s a tendency for people to want to have a very complete referral with a lot of work-up and a lot of the differential diagnostic testing done. But I think this makes a new generation, a new scenario in which—at least in our institution [the Ann & Robert H. Lurie Children’s Hospital of Chicago], where we have absolutely no qualms about taking referrals with a hypotonic child with tongue fasciculations or decreased reflexes and working them in immediately—if people have reached out for assistance with diagnosis.
Elizabeth Kichula, MD, PhD: And while I’m talking, I think if you’re thinking about the diagnosis on your differential, you should send testing for it, because it’s really become a can’t-miss diagnosis.
Nancy L. Kuntz, MD: Advice for the communities.
Claudia A. Chiriboga, MD, MPH: I think 1 piece of advice would be for the gatekeepers, which are the pediatricians. And it used to be that you’d see a hypotonic child, and you’d watch for resolution and have a more benign response to it. And I think education is important to understand the exact point that you were making, that hypotonia could be SMA [spinal muscular atrophy] and that should be thought of first. And testing should be done.
And if you’re not sure, make a referral. And geneticists need to be educated as well. I had 1 child who was told they were presymptomatic: you have 3 copies, you can wait 4 months to get treated. And so education is very important to identify and diagnose early because we know that there are delays in diagnosis, and that’s key. I think the issue of partnering with general neurologists who don’t have access to a multidisciplinary clinic is very important, because we can’t treat everybody, but we can provide expertise and advice so that they know how to proceed.
Nancy L. Kuntz, MD: Dr Darras, we look to you for any final thoughts and comments.
Basil Darras, MD: It seems that within a year or a little more, we may have 2 or more treatments approved for SMA. Again, there are treatments that will not be cures for spinal muscular atrophy. And therefore, we have to keep in mind in addition to these high-tech interventions that we have to continue to use rehabilitative measures, which are very important for the patients but also for the families, the caregivers.
And as far as advice to community neurologists, I think that, as Claudia said, they need to realize that there are centers of excellence, which actually can treat these patients. If they don’t have the capacity to offer more than secondary care, they should refer these patients to SMA centers.
Nancy L. Kuntz, MD: Thank you.
Basil Darras, MD: You’re very welcome.
Nancy L. Kuntz, MD: I’d like to thank all the members of this panel who’ve contributed to this discussion. On behalf of all of us, I’d like to thank you for joining us, and I hope that you found this Peer Exchange discussion to be useful and informative. Thank you.