Following the science to make progress in rare diseases

When thinking about rare diseases, one might think they only affect a very small number of people. However, once you know that more than 300 million people worldwide are living with one of 6,000 known rare diseases – that’s one in every 26 of us alive today – you realise the widespread and collective impact that these conditions can have. Despite the prevalence of rare disease, diagnosis can often take upwards of five years, leading to a delay in care, and, even following diagnosis, there are all too often limited treatments available.

A significant proportion of these conditions have a neurological basis. To meet the needs of people with neurological conditions, at Roche we have grown and advanced our neuroscience portfolio to be one of the most diverse and promising in the industry. In collaboration with a range of partners, we have discovered and developed breakthrough medicines for complex conditions that have eluded scientists for so long – including some of the most common disorders like multiple sclerosis, as well as lesser-known rare diseases, such as spinal muscular atrophy (SMA) and neuromyelitis optica spectrum disorder (NMOSD). In fact, we’re continuing to increase our focus on the often-difficult research of rare neurological disorders. This month we’re thrilled to have brought two first-in-class medicines to people with SMA and NMOSD in the U.S., following approval by the U.S. Food and Drug Administration (FDA). 

We’re continuing to increase our focus on the often-difficult research of rare neurological disorders. This month we’re thrilled to have brought two first-in-class medicines to people with SMA and NMOSD in the U.S., following approval by the U.S. Food and Drug Administration (FDA). 

Improving function in SMA

SMA is a rare and genetic disorder that impacts people’s physical strength by affecting their motor nerve cells, reducing their ability to walk, eat and sometimes, even breathe. There are three main types of SMA (Type 1, 2 and 3) which are defined by the age at which symptoms first appear and when the highest physical milestones are achieved. Without treatment, babies with the most severe form of SMA - Type 1 - cannot sit unsupported, 68% die by the age of two and 82% by the age of four.

Our treatment showed clinically meaningful improvements in motor function across two clinical trials in people with varying ages and levels of disease severity, including Types 1, 2, and 3 SMA. Infants achieved key motor milestones not normally seen in the natural course of the disease, such as sitting without support for five seconds, holding their head upright, rolling over and even standing without support. Our treatment was also shown to improve survival without permanent ventilation at 12 and 23 months, compared to natural history.

The molecule itself, developed as part of a partnership with the SMA Foundation and PTC Therapeutics, is the first survival motor neuron-2 (SMN2) modifying treatment that can be taken orally. It works by helping the SMN2 gene produce more functional SMN protein in the central nervous system and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons, which transmit movement signals from the brain to the muscles.

Reducing relapse in NMOSD

NMOSD is a rare and lifelong autoimmune disease of the central nervous system. People living with the condition experience unpredictable, severe relapses causing cumulative, irreversible, neurological damage and disability. Just one relapse may lead to blindness, debilitating motor dysfunction and, in some cases, death. At-home treatment provides great flexibility for people with NMOSD and their carers, and a recent survey showed that 87% of people preferred to have their treatment at home rather than in a hospital setting. Our medicine is the first and only approved therapy for adults that can be self-administered (after training) – more significant than ever in light of the COVID-19 pandemic, which has necessitated a rise in remote healthcare. Designed by Chugai, a member of the Roche group, it is the first humanised monoclonal antibody that targets the interleukin-6 (IL-6) receptor in NMOSD. IL-6 is a signalling protein, produced by immune cells in the body, that is believed to play a key role in the inflammation occurring in people with NMOSD, leading to these unpredictable and severe relapses. People with active NMOSD can have higher levels of IL-6, so blocking IL-6 signalling, by targeting its receptor, is believed to work by reducing this inflammation. This in turn may limit NMOSD disease activity and we hope to provide longer independence for these people. 

The power of partnership

While we are incredibly proud of these advancements, we could not have done it alone. We sincerely thank our equally passionate advocates and industry partners with whom we have collaborated. Our partnerships with the SMA Foundation and PTC Pharmaceuticals, and collaboration with Chugai, have been fundamental to making a meaningful impact in these serious and life-threatening diseases. In addition, for rare neurological disorders, it is especially important that we learn from the communities who have first-hand knowledge of the unique challenges of living with a particular rare condition.

Our partnerships with the SMA Foundation and PTC Pharmaceuticals, and collaboration with Chugai, have been fundamental to making meaningful impact in these serious and life-threatening diseases. 

That’s why we partnered closely with the SMA community, to help shape our clinical trial programme which includes more than 450 people across a large and robust clinical trial programme to represent a broad spectrum of people living with SMA – including under-served and under-represented patient populations from birth to 60-years-old. Our partnership with the SMA Foundation and PTC has enabled us to accelerate the drug development process; progressing from the first SMA patient dosing in October 2016 to the first health authority approval in less than four years, which is an incredible achievement. 

We partnered closely with the SMA community to help shape our clinical trial programme, with more than 450 people across a large and robust clinical trial programme to represent a broad spectrum of people living with SMA – including under-served and under-represented patient populations from birth to 60-years-old. 

The progress these partnerships have delivered is by no means a one-off; we are committed to continuing to forge meaningful relationships across the industry and advocacy groups that tackle some of the most difficult challenges across a broad range of neurological disorders.

Our hope is to create a tomorrow where neurological disorders, such as SMA and NMOSD, no longer limit human potential and to help preserve what makes people who they are.