Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder, characterized by progressive muscle weakness caused by a loss of specialized nerve cells (motor neurons) in the spinal cord and brainstem, the part of the brain connected to the spinal cord.
SMA experimental therapies under investigation include treatments that aim to increase SMN protein levels, enhance residual SMN function and compensate for its loss. This section offers an overview of potential therapies now in testing. For detailed information, please click on the name of the drug you want to examine.
SMN gene therapy
SMN gene therapy is thought to be a viable way of restoring the SMN protein levels in people with SMA. Each therapy is designed to deliver, using a harmless virus, a functional copy of the SMN1 gene to the cells in the body. Three groups are currently investigating this approach.
Humans have a second gene called the SMN2 gene, which also contributes to the production of SMN protein but in a considerably lesser amount. Antisense oligonucleotides (ASO) are small molecules that can bind to RNA and change how it is read. They can accurately target the SMN2 gene and convert it into the SMN1 gene, thereby driving production of more functional SMN protein. Spinraza is the first ASO approved by the FDA to treat SMA in infants and adults.
Production of SMN protein from the SMN2 gene
These drugs are designed to increase the amount of functional SMN protein from the SMN2 gene.
Neuroprotective molecules aim to restore the function of motor neurons or prevent their death. Two such molecules are currently being investigated.
Molecules that improve muscle function
CK2127107 is designed to protect muscle atrophy and slow or stop the disease’s progression. Researchers are also working on potential therapies by inhibiting mysostatin, a naturally occurring protein that normally blocks muscle overgrowth.
- Myostatin-related potential therapies
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