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The Science and Scientists Behind the Drug Treatments

In these pages, we summarise what’s been happening in the laboratory. We outline five different approaches that have reached human clinical trial stages and show promise in treating SMA - bearing in mind that approximately 9 out of 10 experimental drugs starting clinical trials never gain final approval. We also delve into another important area of clinical SMA research - biomarkers. Finally, we introduce you to some of the scientists working behind the scenes.

Basic Research

Basic Research

This takes place in the laboratory and is the first step in identifying and developing potential treatments and a possible cure for SMA.

SMN1 gene replacement

SMN1 gene replacement

SMA is caused by mutation of the SMN1 gene. Researchers are trying to treat SMA by replacing this faulty gene.

Antisense oligonucleotides (ASOs) (modulation of the SMN2 'back-up' gene)

Antisense oligonucleotides (ASOs) (modulation of the SMN2 'back-up' gene)

The SMN2 gene contributes to the body's SMN protein production, but it doesn't work as well as SMN1. ASOs can accurately target SMN2 to essentially convert it into the SMN1 gene.

Small Molecules (modulation of the SMN2 'back-up' gene)

Small Molecules (modulation of the SMN2 'back-up' gene)

As well as ASOs, chemicals and compounds, often known as small molecules, have potential to increase the amount of SMN protein made by SMN2.

Neuroprotection of Motor Neurons

Neuroprotection of Motor Neurons

Neuroprotection aims to support motor neurons by maintaining/restoring their function and/or preventing their death. This approach doesn't target the underlying genetics of SMA, but it could be readily used in combination with other treatments.

Muscle Protection

Muscle Protection

The goal of muscle protection is to provide additional support to muscles to restrict their atrophy, increase muscle mass, and perhaps even restore some muscle function. This strategy doesn't target the underlying genetics of SMA, but aims to slow or stop its progression.

SMA Biomarkers

SMA Biomarkers

Biomarkers are medical indicators that can be measured to inform us of progression of a disease. A dependable set of biomarkers for SMA will be an invaluable tool for assessing the effectiveness of potential treatments in SMA clinical trials.

SMA Scientist Q&A

SMA Scientist Q&A

They are not all old, bespectacled men with messy, white hair and a lab coat, totally disconnected from the outside world!