Question: Could your research eventually find a cure for SMA?

Judith Sleeman answered on 13 Jun 2012:

I hope that it may, in time, be able to help at least some people with SMA. People with SMA have too little of the protein made by the SMN gene because their SMN genes have faults in them. So far, the drugs that have been tested for SMA patients, trying to increase the amount of the SMN protein, have been disappointing: regular doses and very small improvements. At the moment, there are some very promising experiments in mouse models of SMA using gene therapy to add extra copies of the SMN gene. If, and it’s a big if, this can be done safely and effectively in patients, it represents a very good chance of a cure as long as it can be used before too much damage has been done. However, SMA is progressive and it’s not possible to replace motor neurons once they are gone. There may be patients for whom the gene therapy would not work, and additional drugs to help the motor neurons that are left in people who have had SMA for a while to work better might also be able to help some patients.

We’re trying to find out exactly what the SMN protein does in the cell and how cells are damaged when they don’t have enough SMN. The more we understand about this, the better chance we have of ‘designing’ different types of drugs, perhaps to help support the cells in other ways, rather than trying to increase SMN levels.