An Overview of Current Therapies for SMA
Dr. Darryl De Vivo describes the current treatments and therapies for SMA.
Treatment for any disease and certainly for spinal muscular atrophy can be divided into two basic categories. One I would call symptomatic treatment or symptomatic therapy and the other I would call disease-modifying therapy or such. We have had for a long time very good symptomatic treatment for spinal muscular atrophy and this basically means reacting to problems as they present. For example, we want to maintain nutrition; we want to be certain that they're getting adequate nourishment. Not more nourishment than they need because if they gain excessive amounts of weight, it just adds the burden to them of moving an increased body size around and such. So we want to maintain a weight that is proper for somebody who has lost a significant amount of the lean body mass because of the nature of the disease. The musculature, which normally represents about 30% of your total body mass is significantly depleted in patients with spinal muscular atrophy. As much as 50% to 90% of the muscle mass might be depleted. So what might be a normal weight for one child would not necessarily be the right weight for a child with spinal muscular atrophy. So we must use all of those guidelines when we're designing nutritional supplementation for these children and such. Secondly is to be proactive in the setting of acute illnesses. If a patient were at risk of developing pneumonia, we want to be quick to assess the possibility that it's an infection that would respond to antibiotics. We want to maintain their airway. We want to intervene and give them assistance with coughing. So all of these things are very critical with the symptomatic management of a complication like respiratory failure and such. We like to deal with the curvature of the spine. If it exceeds a certain point in time, it will further compromise the effort to breathe. So we might intervene then and reinforce the spinal column by putting either rods in on either side of the spine in order to maintain the alignment. Or with the younger children nowadays, we can put in rods that we call growing rods. So they're easy to put in and they can be adjusted every six months or so to accommodate the growing child as such. So a truly wonderful advance again in the symptomatic management of these patients and such. Bracing, physical therapy, occupational therapy are all critical parts of the standard of care of children with spinal muscular atrophy. And then dealing with any other complications like gastrointestinal problems, difficulties chewing or swallowing. We might have to put a tube directly into the stomach, the gastrostomy tube to ensure that they get adequate nourishment under these circumstances as such. So these are all issues of symptomatic management. These are approaches that we've had for many years, for decades really.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Therapy, activate, SMN1, SMN2, replace, SMN, degradation, degenerate, neuroprotective, neurotrophic, stem cell, symptomatic, disease-modifying, nutrition, pneumonia, surgery, skeletal, curvature, antibiotics, brace, physical therapy, occupational therapy, gastrointestinal, gastronomy, columbia
- ID: 16942
- Source: DNALC.SMA
- Download: MPEG 4 Video
Dr. Sumner provides an overview of targets for SMA therapies.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
Dr. De Vivo describes the disease progression for different SMA types.
Dr. Sumner talks about gene therapy for SMA.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. De Vivo explains how therapies have dramatically increased the lifespan of SMA patients.
Parents describe Dylan's daily routine.
Frank, an SMA parent, describes the genetics of SMA.
Dr. Sumner explains what causes SMA.