Spinal muscular atrophy: developing a potential new treatment

Spinal muscular atrophy (SMA) is a genetic condition that causes progressive muscle weakness and movement problems. Estimates suggest that between 650 and 1,300 people in the UK are living with SMA.¹ There are several different types, but babies born with the most severe form will have their lives cut tragically short. Dr Melissa Bowerman of Keele University is investigating if a new drug could help boost the effectiveness of gene therapy for SMA – which is already used in patients but does not offer a cure. Her aim is to develop a new combined treatment strategy that can offer new hope for children born with this devastating condition.

Action Medical Research and SMA UK are together funding this research.

How are children’s lives affected now?

Spinal muscular atrophy (SMA) is caused by a faulty gene that leads to the deterioration of the spinal nerves. As signals from the brain can’t get through to the muscles, this leads to movement difficulties and muscle wasting. A person’s symptoms and the age they first appear will vary, but they will get gradually worse over time.

“A baby with SMA may struggle to sit up and hold their head up without support or have difficulties with crawling or walking – and they may also experience other problems, such as with their swallowing,” says Dr Bowerman.

Tragically, many babies born with the most serious type of SMA will die at a very young age – usually due to breathing difficulties. But with the appropriate care, most children who are diagnosed with other forms will go on to live long, fulfilling lives.

“Although there is no cure, treatments – including a new gene therapy – are available that can help to improve life expectancy, manage symptoms and help children to have the best possible quality of life,” says Dr Bowerman.

How could this research help?

“Our goal is to develop a new treatment that can be used alongside gene therapy, which we hope will provide even greater benefits for people with SMA over the course of their lives,” says Dr Bowerman.

The researchers have recently discovered that the overactivity of certain hormones may contribute to the symptoms of SMA. A new drug that is designed to reduce hormone activity is currently being tested in clinical trials for several other conditions.

“We will carry out a series of laboratory experiments to test the effectiveness of this drug for treating SMA – either alone or in combination with gene therapy,” says Dr Bowerman.

They hope that using the drug alongside gene therapy will prove more effective than either treatment alone.

“In the next few years, most patients with SMA will have received at least one kind of gene therapy – so it’s important that we develop new ways to enhance their beneficial effects,” explains Dr Bowerman.

References

1. Spinal Muscular Atrophy Support UK – Key Information Factsheet: http://www.musculardystrophyuk.org/wp-content/uploads/2015/02/Key-Facts-about-SMA-V-2.2.pdf