Crazyfree, February 28, 2019 – Coinciding with the World Day of Rare Diseases, the pharmaceutical company Biogen Inc. celebrates its first year in the Spanish market with nusinersen, the first and only therapy approved in the world for the treatment of Spinal Muscular Atrophy (AME),1 a rare disease of which clinical experts estimate that the number of patients alive varies between 300 and 350.2
In the last decade, Biogen has been one of the pharmaceutical companies that researched and developed disruptive therapies in the field of rare neuromuscular diseases. Thus, this company managed to become the first and only worldwide pharmacy to market a therapy (nusinersen) for the treatment of patients with SMA.1 This framework was able to modify the natural history of the pathology and improved the prognosis of many patients. This happened only a year ago when the heads of the Ministry of Health, Social Services and Equality informed the Atrophia Muscular Spinal Foundation (Fundame) of this great step to change the history of the disease. Spain was to become one of the first countries to include this drug in pharmaceutical services.3
Currently, nusinersen is already approved in more than 40 countries around the world and in 30 of them already have a refund.4 These data refer to more than 6,600 patients treated worldwide with this drug.4
Results of nusinersen in patients with SMA
This therapy demonstrated improvements in both survival and motor function in patients with SMA, the main problems that the disease presents.1 In this sense, its approval in Spain was based on the results of its two main studies: ENDEAR5 (Early-onset AME) and CHERISH6 (Late initiation of AME), which achieved clinically significant efficacy and a favorable safety profile.1
Regarding the total number of patients with early-onset SMA (included in the ENDEAR study), 89 continued in the SHINE study,7 which measured the long-term safety and efficacy of nusinersen treatment.7 The results showed additional improvements in total and specific motor functions (such as head and seated control), along with overall motor function as measured by CHOP INTEND.7 The safety results were consistent with those previously reported for nusinersen.7 These preliminary data further support the favorable risk-benefit profile of nusinersen in early-onset patients and demonstrate that improvements in motor milestones can be achieved regardless of age at treatment.7
Regarding the CHERISH study,6 Nusinersen also showed a statistically and clinically significant improvement in motor function in patients with late AME in comparison to those who were not treated.6 The drug progressively improved and sustained patients' motor milestones over time.6
In addition, Biogen has other tests of its clinical program in AME, such as EMBRACE8 and NURTURE.9 In the intermediate analysis of the NURTURE trial in genetically diagnosed pre-symptomatic patients, treatment allowed patients to achieve adequate motor development at age and consistent with the motor development of healthy patients.9 In this sense, 100% of the patients who participated in the study could sit without support, 88% were able to walk with help and 77% were able to walk alone. In addition, all participants continued to progress during the study without any evidence of sustained regression.10
Approach of the adult patient with SMA and its improvement since the arrival of the treatment
This neuromuscular disease can be fatal in its more severe forms, especially the type 1 SMA that appears in childhood.11 According to experts, this type of patient usually does not reach more than two years, due to the motor and respiratory complications caused by the disease.
However, there is also a percentage of patients with forms of the disease of later evolution, who manage to reach adulthood.12 In this group of people, the disease is causing a number of especially important limitations when performing basic activities such as walking and breathing because of muscle weakness.11 This can reduce your hope and quality of life.
With the advent of this treatment, adult patients are improving or stabilizing their condition, stopping the progression of the disease.13 In addition, results from clinical trials suggest that life expectancy can also be increased in the long term, since they have been able to slow motor and respiratory problems caused by SMA.1
As pointed out Marta ValenteMedical Director of Biogen Spain, "The release of nursiners was a giant step and a change in the course of SMA patients' disease, but there is still a lot to be done. Early detection is essential, but we must not forget all those patients who are in a Therefore, the current challenge is to ensure that health professionals have the most up-to-date information about treatment and can make the most informed decisions possible, something in which we are actively collaborating, sharing the same In addition to the effort made in AME, our company's commitment to rare diseases leads us to work also in pathologies such as Progressive Supranuclear Palsy or Amyotrophic Lateral Sclerosis, in which patients of all types the world also need help to find a promising horizon. "14
What is Spinal Muscular Atrophy? 15,16,17
SMA is a rare disease characterized by loss of motor neurons in the spinal cord and brain stem, resulting in severe and progressive muscle atrophy. Ultimately, people with the most severe type of SMA can lose motor function and perform difficult basic functions such as swallowing or even breathing.
Loss or mutation in the SMN1 gene implies that people with SMA do not produce enough motor neuron survival protein (NMS), which is critical for the maintenance of motor neurons. A second almost identical gene, SMN2, is also capable of producing the same protein, but in smaller amounts. In patients with SMA, the severity of the disease is related to the number of copies of the SMN2 gene and, therefore, to the capacity of the functional SMN protein that they are able to produce.
People with type 1 SMA who require more intensive care, in most cases with one or two copies, can not be without support or live more than two years without respiratory support. People with SMA type 2 and type 3, who in most cases have between two and four copies, produce larger amounts of SMN protein and therefore have less severe forms of SMA, but also have a progressive nature and alter and condition their quality of life.
At Biogen, our mission is clear: we are pioneers in neuroscience. Biogen discovers, develops and delivers innovative treatments worldwide for patients with severe neurological and neurodegenerative diseases. As one of the first global biotechnology companies in the world, Biogen was founded in 1978 by Charles Weissmann, Heinz Schaller, Kenneth Murray and Nobel Prize winners Walter Gilbert and Phillip Sharp and today has an excellent portfolio of medicines to treat Multiple Sclerosis, presented the first and only approved treatment for spinal muscular atrophy and focuses on advanced programs of neuroscience research in Alzheimer's disease and dementia, multiple sclerosis and neuroimmunology, movement disorders, neuromuscular disorders, acute neurology, neurocognitive disorders, pain and ophthalmology . Biogen also produces and markets biosimilars of advanced biological products.
We regularly publish information that may be relevant to our investors on our website www.biogen.com. For more details, visit www.biogen.com and follow us on social networks: TwitterLinkedIn, Facebook and YouTube.
- Datasheet Nursinersen. https://ec.europa.eu/health/documents/community-register/2017/20170530137918/anx_137918_en.pdf [Fecha de último acceso: febrero 2019]
- Therapeutic Positioning Report. https://www.aemps.gob.es/medicamentosUsoHumano/informesPublicos/docs/IPT-nusinersen-Spinraza-atrofia-muscular-espinal.pdf [Fecha de último acceso: febrero de 2019]
- Press release from the Ministry of Health. Https://www.mscbs.gob.es/gl/gabinete/notasPrensa.do?id=4292 [Fecha de último acceso: febrero 2019]
- Biogen Inc (BIIB) Transcript of the 4Q 2018 Earnings Conference Call. Https://m.nasdaq.com/article/biogen-inc-biib-q4-2018-earnings-conference-call-transcript-cm1089241 [Fecha de último acceso: febrero 2019]
- Finkel RS, E mercury, Darras BT, and others Nusinersen against sham control in spinal muscular atrophy of early childhood. N Engl J Med 2017; 377: 1723-32
- M Mercuri et al. Nusinersen versus Sham Control in Posterior Onset Spinal Muscular Atrophy. N Engl J Med 2018; 378: 625-35
- Castro, D et all. Interim Report on Safety and Efficacy of Long-Term Treatment with Nusiners in Spinal Muscular Atrophy of Childhood (SMA): Results of the SHINE Study. Presented at Presented at the 23rd Annual International Congress of the World Muscle Society. 2- 6 October 2018. Mendonza, Argentina. P.170
- Acsadi et al. Safety and efficacy of Nusiners in infants / children with spinal muscular atrophy (SMA): Part 1 of the EMBRACE Phase 2 Study. _22na World Muscle Society Annual International Congress. October 3-7, 2017. Saint Malo, France. P.380
- Crawford TA et al; Nusinersen in children who started treatment at a pre-symptomatic stage of spinal muscular atrophy (SMA): provisional efficacy and safety results from the NURTURE Phase 2 study. P 146 resented the 47th Annual Meeting of the Society of Child Neurology I from October 15 to 18, 2018 I Chicago, IL
- Swoboda KJ et al. Nusinersen in infants who start treatment at a pre-symptomatic stage of spinal muscular atrophy (SMA): provisional efficacy and safety results of the NURTURE phase 2 trial. Presented at the 23rd Annual International Congress of the World Muscle Society. 2- 6 October 2018. Mendonza, Argentina.
- Kolb, Stephen J. et al. "Natural history of spinal muscular atrophy of childhood onset." Annals of Neurology 82.6 (2017): 883-891
- Mercuri, Eugenio et al. "Patterns of Disease Progression in Type 2 and 3 SMA: Implications for Clinical Trials." Neuromuscular Disorders 26.2 (2016): 126-131
- Walter M. et all; Nusinersen treatment in long-term adult SMA type 3; P502 ICNMD Vienna 2018
- Biogen Q4 and full year 2018 (financial results and business update). http://investors.biogen.com/static-files/c0d4fbe2-d4f2-404b-be17-19e770386d6e [Fecha de último acceso: enero 2019]
- Faravelli I, et al. Nat Rev Neurol. 2015; 11: 351-9;
- Lunn MR, Wang CH. Lancet 2008; 371: 2120-33;
- von Gontard A, S Rudnik-Schoneborn, Zerres K. Stress and coping in parents of children and adolescents with spinal muscular atrophy. Klin Padiatr. Jul 2012; 224 (4): 247-51.