Building a historic alliance to shape the future of SMA

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterised by muscle atrophy and weakness affecting approximately 1 in 10,000 babies born worldwide and, until recently, was the leading genetic cause of death in infants and young children.

Despite the prevalence and urgency of SMA, the condition was underfunded, with limited research and no approved treatments for many years.

In 2003, the SMA Foundation was established with a singular mission: to accelerate the development of treatment options for SMA. Developing drugs, especially for rare diseases like SMA, can be costly and requires a huge amount of expertise, time and resources. Collaborating with multiple partners early on is essential, to share knowledge, costs and manage risks. 

“We wisely decided that drug development wasn't our area of expertise. A primary goal of the Foundation was to get pharma and biotech interested in SMA and have them join our programme.” – Karen Chen, Chief Executive Officer, SMA Foundation.

The SMA Foundation worked tirelessly to increase research funding and develop the infrastructure and foundational science needed (e.g., animal and cellular models, biomarkers, natural history studies, etc.) to speed up timelines and reduce the risk for prospective partners. PTC Therapeutics (PTC), a biotech with expertise in rare and neuromuscular diseases, and a deep knowledge of the biology behind the SMN genes that are central to SMA, joined the alliance in 2006. PTC’s innovative research technology of small molecule splicing – a concept which at that time many considered ‘science fiction’ – was an initial scientific breakthrough. However, both parties knew that they would need the capabilities of a larger healthcare company to move this therapy along in development and ultimately deliver it to patients.

Impressed by the innovative science and research, Roche joined the alliance in 2011 and contributed their expertise of turning great science into great medicines. This marked the start of a unique three-party alliance spanning a patient organisation, a biotech, and a large healthcare company. 

From the start, it was clear that a main benefit of this alliance was the different perspectives and experiences that each party could bring, whilst being united by a shared vision:

The SMA Foundation bridges the alliance’s purpose with the patient voice. They invited patients to meetings to reinforce the ultimate goal and utilised their unique perspectives to inform trial design.

PTC Therapeutics brings groundbreaking research technology with significant expertise in rare and neuromuscular diseases.

Roche offers scientific excellence through its Pharma R&D unit (pRED), development and manufacturing capabilities at scale, and a worldwide network to get therapies to as many patients as possible.

“The SMA Foundation played a pivotal role in maintaining focus on the patient, to get a potential treatment to patients as soon as possible and in the best possible way. Whenever we hit a barrier or setback, the SMA Foundation ensured we didn’t lose sight of our overall purpose.”  – Paulo Fontoura, Global Head and SVP Neuroscience, Immunology, Ophthalmology, Infectious and Rare Diseases, Roche.

Another benefit was that each company had an equal say – something that isn’t as easy to achieve with traditional partnerships. This was built on a common understanding and trust that everyone’s long-term goals would be met. 

“From the beginning of our discussions about a collaboration in SMA, Roche knew how to work with us and the SMA Foundation and understood our needs and concerns. As a result, the collaboration was designed from the bottom up to be innovative and flexible, which I think at the time was unprecedented.” – Mark Boulding.

Drug development isn’t easy or straightforward. Power and perseverance are essential for any hurdles along the journey. However, with a commitment to bringing patients more options, the alliance kept going even when other treatments entered the market. One of the first challenges was the decision to discontinue the first molecule after potential issues were flagged from initial nonclinical studies. This meant the team had to go back to the drawing board.

“It wasn't easy for anybody. It wasn't easy for the SMA Foundation or the patients who wanted the molecule sooner. It wasn't easy for Roche because it meant that they would not be first to market. And it wasn’t easy for PTC, a small biotech wanting everything at speed, so the loss of time was painful. We made a collective decision and it worked out extremely well. It's a good example of healthy dialogue resulting in a good outcome.” – Mark Boulding.

Interaction throughout the collaboration was vital for success. Regular face-to-face meetings and the continuity of personnel established strong relationships and trust. This aided not only difficult negotiations but also fostered a commitment from all sides to see the project through.

Although unprecedented at the time, this three-party alliance moved the needle for SMA and resulted in the first oral treatment for patients with SMA, which the Roche team successfully brought to patients in over 100 countries to date. The three partners continue their work on investigating new approaches and treatments for SMA and other areas with high unmet need.

The alliance set the standard for the ways in which companies can work together to bring important therapies to patients, faster.

Are you interested in seeing where partnerships can take us on the journey of drug development? Contact us via the contact form

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