Rare Diseases

Although individual diseases are rare, collectively, rare diseases are anything but – there are 7,000 different rare diseases and more than 400 million people suffering from them globally. Very few have an approved treatment available.

For those living with a rare disease, the impact is felt every day of a person's life. And although children make up around half of all those diagnosed, living with a rare disease requires life-long, often complex and challenging management. But the number of people who feel the impact of rare diseases is even greater still. Because many rare diseases are genetic, it affects entire generations of families, many of whom become caregivers and advocates.

Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular condition, affecting approximately one in 10,000 live births globally and one in 7744 live births in India and is the leading genetic cause of infant mortality. SMA is caused by the mutation of the survival motor neuron 1 (SMN1) gene, leading to a deficiency of SMN protein which is critical for muscle function. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to muscle weakness over time. 

SMA robs people of their physical strength by affecting motor nerve cells, taking away or diminishing their ability to walk, eat and even breathe. Our team of experts is exploring multiple approaches related to SMA as we believe no patient should be deprived of an opportunity to live a healthy life, however complex or rare the condition is.

Evrysdi (risdiplam), an only oral therapy to treat SMA patients across all Types, aged 2 months and older. Working with the community, Roche created the broadest  pivotal clinical development programme in SMA to date. Our global trials include people with different types of  SMA, from birth to 60-years-old, and include patients pre-treated with other SMA targeted therapies. We established trials in countries where people with  SMA have never been studied before with the aim of  improving the standard of care around the world. 

Our close collaboration with the SMA community has enabled  us to accelerate the drug development process, from first  SMA patient dosing in 2016 to FDA approval in the US in 2020, to the launch in India in July 2021 - a  ground-breaking achievement depicting our speed, agility and dedication to serve SMA patients. 

Evrysdi is a survival motor neuron-2 (SMN2) splicing  modifier for SMA and is an orally at-home administered liquid. It has been approved in over 50 countries so far. More than 5,000 patients are now being treated with Evrysdi in clinical trials, compassionate use and real-world settings. Evrysdi is designed to treat SMA by increasing and  sustaining functional levels of the SMN protein throughout  the central nervous system and peripheral tissues through daily dosing which helps to consistently maintain  an increase of SMN protein levels.

Develops in babies less than 6 months old and is life-limiting.2,4 Few children survive beyond two years of age

• Babies are often ‘floppy’ due to severe muscle weakness, they struggle to control their head or lift their arms and legs

• They may also struggle to breathe sufficiently on their own

• Babies will never be able to sit unaided

Develops in children who are 7-18 months old, leading to muscle weakness. It may also shorten life expectancy2,5

• Children with SMA Type 2 will never be able to walk

• As muscles weaken over time, some people may develop a curvature of the spine, called scoliosis

• Many will develop significant respiratory and breathing problems, as well as having problems swallowing

• Many achieve the ability to sit, but this ability will be lost over time.

Develops after 18 months of age and may not be evident until late childhood2,6

• People may experience muscle weakness that will get worse over time

• Many children with Type 3 SMA will learn to walk, but this ability will be lost over time as they progress in to adolescence

• Life expectancy is not usually affected

• Legs may be weaker than arms

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