Tofersen

Tofersen

Chemical structure of Tofersen

Tofersen is an investigational antisense oligonucleotide designed to treat amyotrophic lateral sclerosis (ALS) associated with mutations in the superoxide dismutase 1 (SOD1) gene. It is a synthetic molecule that targets the mRNA of the SOD1 gene, aiming to reduce the production of the mutant SOD1 protein, which is implicated in the pathogenesis of ALS.

Mechanism of Action

Tofersen works by binding to the mRNA of the SOD1 gene, which is responsible for encoding the SOD1 protein. By binding to this mRNA, Tofersen promotes its degradation through the recruitment of RNase H, an enzyme that cleaves the RNA strand of RNA-DNA hybrids. This process reduces the levels of SOD1 protein, particularly the mutant forms that are toxic to motor neurons.

Clinical Development

Tofersen is currently undergoing clinical trials to evaluate its safety and efficacy in patients with SOD1-ALS. The trials are designed to assess the drug's ability to slow the progression of ALS symptoms and improve motor function. Initial studies have shown promise, with some patients experiencing stabilization of their condition.

Administration

Tofersen is administered via intrathecal injection, which involves delivering the drug directly into the cerebrospinal fluid (CSF) surrounding the spinal cord. This method of administration is chosen to ensure that the drug reaches the central nervous system, where it can exert its effects on motor neurons.

Potential Side Effects

As with any investigational drug, Tofersen may have side effects. Commonly reported side effects include headache, back pain, and procedural pain associated with the intrathecal injection. More serious side effects are being monitored in clinical trials to ensure patient safety.

Future Directions

Research is ongoing to determine the long-term efficacy and safety of Tofersen in treating SOD1-ALS. Additionally, studies are being conducted to explore the potential of antisense oligonucleotides in treating other forms of ALS and neurodegenerative diseases.

Related Pages

• Amyotrophic lateral sclerosis
• Superoxide dismutase 1
• Antisense oligonucleotide
• Neurodegenerative disease