Case Study 3: Sydney Children’s Hospital Network and the University of NSW

Developing and translating the first treatments for spinal muscular atrophy into clinical practice

Spinal muscular atrophy (SMA) is a genetic condition that causes weakness and wasting of the skeletal muscles, which are the muscles used for movement.18-20 Signs of the most common form of SMA, type 1, usually appear within the first months of life, and many children do not survive past infancy. With all SMA types, muscle weakness generally worsens with age, and affects people’s ability to sit, stand, and walk.

Our advocacy goal

Our goals were to:

  • Conduct SMA clinical trials at the Sydney Children’s Hospitals Network (SCHN) Randwick Neuromuscular Clinic and integrate trials into clinical care
  • Prepare our health service for rapid incorporation of new treatments into routine clinical care, including quick and accurate diagnosis, ideally as part of newborn screening.

Our first step to achieving these goals was being chosen to be part of an international clinical trial. To do this we had to show it was feasible to run a trial at SCHN. We had to show we had a standard approach of caring for our patients that was used across SCHN, and that SCHN had the right people and resources to run the trial.

We worked as a Centre of Expertise to provide multi-disciplinary care, that is, care that is provided by different types of health care professionals. A Centre of Expertise provides specialist care for people with specific conditions or groups of conditions (for example, neuromuscular conditions or rare diseases) and supports research, education and community engagement.

Building a community

One of our key approaches was early engagement with the different groups and organisations that would be involved in establishing the clinical trials and/or participating in them. Throughout the process, persistence, openness, and willingness to speak with many stakeholders was key. We also ensured there was trust, respect, and transparency within our team.

Starting clinical trials for new therapies and incorporating these therapies into routine clinical care was complex and required networking and collaboration with a wide range of people and organisations, including families with SMA, regulatory agencies, clinical teams, and decision makers.

Other approaches, which happened at the same time as we were establishing our centre as a clinical trial site, included:

  • Learning more about SMA and the people we hoped to treat to better understand the numbers of people affected, their individual and family characteristics, and the natural course and effects of SMA
  • Listening to the lived experience and unmet needs of families with SMA and clinical teams, which ensured our goals were person-centred and focused on the patient and their families or carers
  • Engaging and collaborating with many different people and organisations. This includes research ethics and governance committees, pharmacists, clinical teams, advocacy and community stakeholders, Government agencies, scientific communities, clinical experts, and companies in the biotechnology/pharmaceutical industry
  • Taking part in regular meetings and workshops to update collaborators and share learnings and education
  • Applying existing care guidelines and models of care with the help of our networks
  • Speaking to and partnering with experts to help us understand and complete regulatory processes that would allow us to start the clinical trials
  • Working with behavioural scientists, health economists, and data experts to fill evidence gaps
  • Collaborating with international networks to utilise their expertise.

To expand treatment access to more children, the team established a patient registry to generate ‘real world’ data, a challenging but necessary task.

After the clinical trials were complete, we wanted as many children as possible to be able to receive the new treatment. However, clinical trials have strict inclusion and exclusion criteria – meaning entry to a trial may be limited based on age, type of SMA, and how affected the child is. We had limited evidence that the treatments worked in children who did not meet the inclusion and exclusion criteria for our trials, so we collated real-world data about how children responded to treatment outside of a clinical trial. Capturing this real-world evidence was critical to expanding access to the treatment.

Sharing knowledge, clinical evidence, and lived experience

Communicating an expert and evidence-based messagewas a critical part of SCHN’s approach. They also ensured communication from all partners was consistent. To better understand the needs of families, the team listened to people’s personal stories.

We looked for opportunities to share knowledge and education, increase awareness, collaborate, and secure funding. We were constantly communicating and educating people, including developing resources. We presented a unified clinical expert voice and utilised the Australian Neuromuscular Network community of practice around the clinical centres so that we were all consistent in care and practice and learning as a group. We also engaged with the media when appropriate.

Having clear evidence of better health outcomes and stories reflecting lived experience was a powerful combination for setting advocacy goals. The patient voice and lived experience was also critical for setting our priorities.

Persistent communication to convey consistent, accurate and cohesive messages and goals

As a community we established three priorities for consistent communications:

  • Access to therapies
  • Early diagnosis (through newborn screening)
  • Reproductive screening.

Many different approaches were used to communicate these key messages and influence decision makers, including:

  • Planning and aligning messaging
  • Having multiple conversations with decision makers
  • Developing case studies describing the benefits to individual patients to help decision makers clearly see the value of the treatment
  • Ensuring that when decision makers spoke with families and advocacy organisations, they heard the same message they had heard from clinicians and researchers
  • Writing briefs for executive leadership; this alone was usually not able to bring about the outcomes we were seeking, so we had to support these briefs with further communication and discussions.

Key messages

This case study highlights the value of:

  • Networking and collaboration with a wide range of people and organisations to gain diverse input
  • Listening to and sharing the voices of people living with a rare disease
  • Consistent messaging and a unified voice from clinical experts and people living with a rare disease
  • Patience and persistence to continue even when the first attempt was not successful

“When decision makers spoke with families and advocacy organisations, they heard the same message they had heard from clinicians and researchers.”

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