Sitting, walking, standing and running are actions we take for granted. However, 1 in 6000 people are unable to perform these daily functions (Reference, Genetics). Spinal muscular atrophy (SMA) is a genetic disorder affecting the motor neurons located in the spinal cord and brainstem responsible for muscular movement (Reference, Genetics). Genes accountable for the production of survival motor neurons (SMN) proteins, the SMN1 and SMN2, suffer mutations or deletions in their genes (Reference, Genetics). This causes atrophy and weakness in muscles used for motor functions (Reference, Genetics). As shown in Figure 1, the effects of this disorder are drastic and produce extremely detrimental outcomes for people suffering from it relative to those
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The ongoing clinical trials and research focus on increasing functional SMN protein using antisense oligonucleotide drugs (nusinersen). These are short sequences of RNA that attach to mRNA preventing the gene from producing the protein (Definition of Antisense Drug; Wertz and Sahin 5-19). With the aid of mice, invertebrates, larger animals and in vitro human SMA stem-cell models, scientists are attempting to discover a treatment method with minimum complications (Wertz and Sahin 5-19). A specific clinical trial experience involves the nusinersen drug administered via lumbar punctures and intrathecal injections in order to provide a direct route of the drugs into the cerebrospinal fluid to be distributed to spinal cord and brain (Hache et al. 889-906). In this clinical trial there were 73 lumbar punctures performed in 28 pediatric patients from 2-14 years old and 66% of these patients were diagnosed as type 2 or 3 SMA. After the conclusion of the clinical trial, it was found the method of delivery and dosages was a success and a good benchmark for future protocols to be based upon (Hache et al. 889-906).
Finding an effective and FDA approved treatment for this disorder will be a long process of clinical trials. However, finding a cure for this would be a huge revolution for the lives of those affected and help
The ongoing clinical trials and research focus on increasing functional SMN protein using antisense oligonucleotide drugs (nusinersen). These are short sequences of RNA that attach to mRNA preventing the gene from producing the protein (Definition of Antisense Drug; Wertz and Sahin 5-19). With the aid of mice, invertebrates, larger animals and in vitro human SMA stem-cell models, scientists are attempting to discover a treatment method with minimum complications (Wertz and Sahin 5-19). A specific clinical trial experience involves the nusinersen drug administered via lumbar punctures and intrathecal injections in order to provide a direct route of the drugs into the cerebrospinal fluid to be distributed to spinal cord and brain (Hache et al. 889-906). In this clinical trial there were 73 lumbar punctures performed in 28 pediatric patients from 2-14 years old and 66% of these patients were diagnosed as type 2 or 3 SMA. After the conclusion of the clinical trial, it was found the method of delivery and dosages was a success and a good benchmark for future protocols to be based upon (Hache et al. 889-906).
Finding an effective and FDA approved treatment for this disorder will be a long process of clinical trials. However, finding a cure for this would be a huge revolution for the lives of those affected and help