SMA Awareness Month: How pharma and digital solutions can improve patient care

Spinal Muscular Atrophy (SMA) is a rare disease affecting the motor nerve cells in the spinal cord. It’s a debilitating condition that affects 1 per 8,000 to 10,000 people worldwide, impacting their ability to walk, eat, and breathe. SMA Type 1 represents an estimated 50% of all cases, for which life expectancy is less than 18 months without treatment. 

This SMA Awareness month, we look at how digital health solutions can complement and enhance the effectiveness of drug-based treatments for rare diseases and make a positive difference in the life of patients.

The challenge with treating rare diseases

According to official statistics from Eurodis, a disease is considered rare when it affects less than 1 in 2,000 people. While that sounds like a relatively small segment, with over 6,000 identified rare diseases around the world, the total percentage of the global population living with such a condition is between 3.5%-5.9%; over 300 million patients.

Despite the millions suffering from the effects of a rare disease on a daily basis, digital health solutions have been vastly underused in treatment programs to date. And yet they’re well-placed to address the challenges that rare illnesses present.

Firstly, knowledge and expertise around rare diseases is often limited to a few specialized centers of excellence. This means patients may be forced to travel considerable distances to get treatment, which can cause significant strain on their physical and emotional wellbeing, and that of their caregivers.

Secondly, given that there are often large gaps between appointments, it can be a challenge for medical professionals to access up-to-date information on patient status as well as gather data between clinical visits. This lack of clarity can delay diagnosis and treatment, meaning suboptimal care for patients.

These aspects are only further exacerbated by often limited treatment research around rare diseases, which means some early symptoms may be missed or misidentified. The result is that rare disease treatment may only begin when a condition is more advanced, which can impact outcomes or a patient’s quality of life.

With digital health solutions becoming more agile and customizable, they can not only address the common challenges that exist across all types of rare diseases, but also provide increasingly personalized support to meet each individual patient’s needs, ensuring clinicians have better oversight and help ensure treatment is as effective as possible.

Given the significant impact that rare diseases can have on patients and caregivers, it’s imperative we harness the benefits of digital health tools in this space to drive better patient outcomes.

Moving beyond symptom mitigation for Spinal Muscular Atrophy

One example of a digital health solution being used to address these challenges is TrackSMA, developed in partnership with pharma leader, Biogen, in the APAC region.

As a progressive neurodegenerative disease, there were no medical treatments available to target disease progression for SMA until recently. This meant patients often had relatively little engagement with their neurologist and were more likely to see other members of the multidisciplinary care team who were associated with symptom mitigation.

This changed with the 2017 release of Biogen’s Spinraza, the first FDA-approved therapy for SMA. The drug – the first of a new generation of gene therapies – has been demonstrated to significantly impact disease progression. This, in turn, has driven a need for clinicians to measure disease progression and understand the patient’s disease trajectory better, both prior to treatment and following any treatment approval.

Using a digital health solution to better meet patient needs

When developing a digital health solution, providing the right support for patients is only possible by identifying and addressing the key unmet needs for all stakeholders across the treatment journey.

For Track SMA, the challenge was to prioritize the key requirements to enable better provision of patient care and care co-ordination, rather than trying to create a tool that was too broad and overly complex, which could hamper the solution’s development and adoption.

With clinicians needing to understand patients’ disease trajectories both prior to treatment being prescribed and during the new treatment, the tracking of motor milestones and functional assessments was identified as pivotal.

TrackSMA is hosted on the cloud-based platform, Affinial. The tool enables multidisciplinary care teams to capture and perform patient assessments thanks to a range of seven validated clinical outcome assessments (eCOAs). This gives multidisciplinary care teams access to relevant patient assessments, which allows them to visualize and compare scores and view and export useful data on patients.

The solution also provides video and educational material on how to perform assessments appropriately, with a view to improving consistency of scoring across countries.

By effectively tracking disease progression, care teams can now unlock better insights, show patients’ and caregivers’ progress over time, make better informed treatment decisions, and support access and reimbursement. They can also capture longitudinal disease data for research purposes, allowing a greater understanding of disease history and progression over time.

A digital approach offers a better future for rare disease patients

TrackSMA is just one example, but it clearly demonstrates how digital health solutions can improve care for rare disease sufferers.

Digital health solutions have the potential to close the knowledge and collaboration gaps currently creating serious challenges around treating rare diseases.

Digital tools, however, are enabling greater access to specialist knowledge – and care – to remote and disparate patient populations, providing a means to perform assessments, establish clear baselines, and gather patient progress data outside of specialist centers. This, in turn, can facilitate care coordination with local care teams.

The benefits aren’t just limited to the short term. By collecting patient data more reliably and consistently, digital health tools can also unearth valuable insights which are forming the basis of improved care and treatment of patients with rare conditions.

Digital health is becoming more important in addressing the unique challenges of treating rare diseases, like SMA. The more pharma companies embrace it, the faster they can deliver more personalized and cost-effective treatment to those who need it.

About the author

Matt Norton is director of Strategy & Client Solutions at S3 Connected Health.