The Impact of Therapies for SMA
Dr. Darryl De Vivo explains how therapies have dramatically increased the lifespan of SMA patients.
Since the discovery of the gene and particularly with an increasing awareness of the pathophysiology of this disease and the potential for treating the disease, people have become much more interactive, much more optimistic now and so we are very aggressive in providing in optimal symptomatic therapy for these children and such. One very good example is the life expectancy of children with type I disease before 1995 and after 1995. Some of our investigators at Columbia University Medical Center conducted an evaluation of the natural history prior to that point in time and after that point in time. And interestingly, prior to 1995, we found that the type I children were at risk of dying and about 80% would die by age 2. Since 1995, those numbers have been reversed. So now, only about 20% of children are at risk of dying by age 2 and 80% survived well into the first or second decades of life and such. So that is just using the tools that we've always had available in order to treat these children. So symptomatic therapy has taken us a long way in managing these children and maintaining the quality of life and such.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Therapy, life expectancy, SMN, Columbia, gene therapy, SMN1, SMN2, clinical study
- ID: 16944
- Source: DNALC.SMA
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An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Frank, an SMA parent, describes the genetics of SMA.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. Sumner explains what causes SMA.
An animation shows alternate splicing of the SMN2 gene.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
Dr. Sumner talks about gene therapy for SMA.
Dr. Sumner explains copy number variation of the SMN2 gene may influence disease severity.
Dr. Sumner provides an overview of targets for SMA therapies.