How Do SMN Splicing Modifiers Work?

SMN splicing modifiers are drugs used for treating spinal muscular atrophy (SMA) in adults, children, and infants aged two months and older. SMN is a survival motor neuron protein found throughout the body, with the highest level in the spinal cord. This protein is crucial for the maintenance of specialized nerve cells called motor neurons. Motor neurons, located in the spinal cord and the brain stem, transport signals from the brain and spinal cord to the muscles. When the muscles receive these signals, they tend to contract to allow the body to move. The majority of the SMN protein is generated from the SMN1 gene, whereas a small amount is produced from the SMN2 gene. 

Spinal muscular atrophy occurs due to a deficiency of the SMN protein. This deficiency occurs when there is a mutation in both copies of the SMN1 gene, leading to the production of an insufficient level of SMN protein. As a result, people with SMA are dependent on the SMN2 gene to produce SMN protein. Generally, the SMN2 gene can generate only one version of fully functional SMN protein. However, SMN splicing modifiers alter the SMN2 gene in a way that helps them to produce more versions of fully functional SMN protein. SMN splicing modifier causes the body to produce more SMN protein to resolve its deficiency in people with SMA.

SMN splicing modifiers are prescribed for different types of spinal muscular atrophy.

SMN splicing modifiers can cause the following side effects:

• Fever
• Diarrhea
• Rash
• Pneumonia
• Constipation
• Vomiting
• Upper respiratory tract infection
• Joint pain
• Urinary tract infection
• Mouth ulcers

The information contained herein is not intended to cover all possible side effects, precautions, warnings, drug interactions, allergic reactions, or adverse effects. Check with your doctor or pharmacist to make sure these drugs do not cause any harm when you take them along with other medicines. Never stop taking your medication and never change your dose or frequency without consulting your doctor.

Generic and brand names of SMN splicing modifiers include:

• Evrysdi
• Risdiplam