Clinical trials in SMA 

Promising new treatments for SMA continue to be developed. They need to be tested in clinical trials. The registry has been set up to speed the process of finding patients that fulfill the eligibility criteria for the trials.

When recruitment for an SMA trial starts in the UK, the UK SMA Patient Registry will be in touch with those on the registry to let them know about it.

You can also find the information about current SMA related trials on the TREAT-NMD website.

The most comprehensive online listing of trials is at where companies are obliged to provide details of their trials.

A useful overview of the current trials can also be found on the SMA UK website.

We would like to thank all SMA patients and their families/caregivers, we are all working together to ensure everyone with SMA can have access to the best possible treatments and support.

The UK SMA patient registry hopes that, with as many patients’ data as possible, we can gather more information about disease progression, natural history, clinically important endpoints and the validity of biomarkers. Collection of this objective data allows for greater insight into the effects of the drug, improved patient care and advancements of novel therapies.

Seeking a better landscape for therapy development in neuromuscular disorders - PubMed (

If you haven’t already done so, please register with the SMA Patient registry, create a login and input any data you can.

Current Research/Interesting treatments

Globally, SMA communities’ main aims are to improve standards of care and availability of treatment options. Emerging themes in current Clinical Research/Trials include:

  • Combination therapies – currently being investigated in several clinical trials, may have added benefits, though dependant on individual case basis.
  • Treatment options such as therapeutic options and improved SoC, lead to changes in SMA landscape and phenotypes.

Because multiple organs are affected in SMA (e.g. brain, pancreas, blood vessels), ideally treatment would target multiple organs. Further research looking at specific targets and how these would affect the condition as a whole is needed.

  • Different patient subpopulations are showing varied patient responses - some with stronger or less strong reactions – this area needs to be monitored.
  • Earlier treatment for SMA means less muscle atrophy and less neuronal loss.

Here’s an informative video discussing current research trials e.g. approaches, ideal treatment, dosing. 2021 Engage SMA Symposium - Current Research & Clinical Trials - YouTube)

Early diagnosis is essential to help us fight SMA moving forward, current research looking into new-born screening (NBS) is key, in the hope to advance NBS, future children may be able to get treatment like gene therapy before major damage is done to neurons or muscles. Within the UK new-borns are only screened for 9 conditions. The sooner SMA becomes part of this routine check, the better.


New-born Screening for SMA

This article follows the importance for NBS for SMA and many other genetic conditions.

Pre-screening for Spinal Muscular Atrophy could change lives | Great Ormond Street Hospital (

The following article proposes the potential for NBS within the UK: Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay - PubMed (

Other countries around the world routinely screen for SMA, including majority of states within the U.S, and some countries within Europe e.g. Germany, Belgium, Norway.

The European Alliance for NBS in SMA was formed to establish this vision and make it a reality for it to be implemented throughout Europe by 2025. The link below gives a good visual map of what is happening within Europe regarding NBS for SMA.

Map – SMA Newborn Screening Alliance (

Find more information about SMA NBS Alliance below, including the benefits of NBS.

SMA-NBS-Alliance-Flyer.pdf (

SMA UK produced this video, which shows how early treatment and diagnosis of SMA can be so significant with access to advanced treatment and better prognosis.

Newborn Screening for SMA - Spinal Muscular Atrophy UK (

Though, it is important to remember that dependent on a countries access to therapies, NBS may not be feasible in certain areas due to affordability and lack of access to facilities.

Currently a couple of ongoing clinical trials looking at how effective dried blood spot check is in new-born screening as well as advantages and disadvantages of NBS.

Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies? - PubMed (