On the Rare Disease Day, we emphasize the importance of early diagnoses of these diseases

Rare diseases are those that affect five or fewer people per 10,000 population¹. As many as 75% of patients with rare diseases are children and as many as 80% of rare diseases are of genetic origin.¹ For parents whose young children are impacted by one of these diseases, it can often feel lonely navigating a diagnosis that they often had never even heard of. Therefore, raising awareness about rare diseases, providing access to verified information and bringing together patients and their families facing many different challenges is extremely important.

Early diagnosis and treatment are critical for improving outcomes

With the development of innovative and effective therapeutic options for some rare diseases, early diagnoses of these diseases is becoming increasingly important. This also applies to spinal muscular atrophy (SMA). SMA is a rare genetic neuromuscular disease that leads to progressive muscle weakness and paralysis and results in the rapid and irreversible loss of motor neurons responsible for all muscle functions. Therefore, early diagnosis and treatment are extremely important.

"Spinal muscular atrophy in many countries, including Slovenia, is not yet included in the routine newborn screening. With the development of innovative breakthrough therapeutic options, including Novartis' gene therapy for SMA, efforts to integrate spinal muscular atrophy into routine newborn screening have intensified worldwide. I am pleased that efforts in this area are also taking place in Slovenia, which we also strongly support in Novartis," said Krzysztof Nojszewski, Head Novartis Pharmaceuticals in Slovenia.

Newborn screening is the easiest and fastest way to diagnose spinal muscular atrophy. There are enormous benefits associated with an early diagnosis: primarily patients are treated earlier leading to improved outcomes. The devastating reality is that “Time is motor neurons”— the longer you wait, the more motor neurons die, and patients cannot get them back.

Novartis’ gene therapy for spinal muscular atrophy can halt the progression of this severe disease with a single dose, which was not possible until now. This allows the child to survive and also progress in development. The sooner a child with SMA receives therapy, preferably before the onset of the first symptoms, the better the treatment outcomes.

With innovative therapies, we are  changing the lives of many patients with rare diseases

At Novartis, we support the efforts of the rare disease community to raise awareness about these diseases and the importance of advances in diagnosis and treatment. The teams at Novartis see the urgent need to use innovative medicines for the treatment of rare diseases, to transform the lives of hundreds of families across the world. To date, we have helped more than 1,000 patients worldwide with breakthrough gene therapy for the rare disease spinal muscular atrophy (SMA).

“There is no denying the huge unmet need for effective treatments that can help patients with rare genetic diseases. In 2021 we can expect more clinical studies that produce meaningful data, more advanced research and an increase in drug approvals that offer truly innovative treatment options.

It has taken 30 years for gene therapy to evolve from being just a concept to being used in clinical settings and even marketed commercially. This area is still in its early stages so there remains a lot to learn, and there will no doubt be hurdles along the way. However, the door has opened and many more are starting to realize the true potential that different types of gene therapy offer,” emphasized Mike Fraser, General Manager, EMEA at Novartis Gene Therapies, in his article in PME Magazine.⁴

Novartis' work in the development of therapies for rare diseases continues. We currently have two gene therapies in the pipeline for rare neurological diseases, Rett syndrome and Friedreich’s ataxia. In addition, we address rare diseases through treatments like our treatment for Adult-Onset Still’s Disease. Our treatment for metastatic breast cancer is also bringing hope to patients diagnosed with this rare disease.