P.212Mortality in patients with spinal muscular atrophy over the last 10 years: the UK experience
Infantile onset SMA is the most common genetic cause of death in infants. Since the introduction of Standards of Care (SoC), a more proactive approach to care for SMA resulted in improvements in the natural history of the disease. However, for SMA1 infants the approach has, until more recently, with the introduction of novel treatments like antisense nucleotide and gene therapy, in most cases been palliative. In view of this dramatic change in the care of SMA patients, from a palliative approach to causal therapies, an audit was conducted to identify the mortality of SMA1-3 patients accessing neuromuscular centres in Newcastle and at GOSH in London over the last 10 years.
Positive trial results for an oral drug to treat spinal muscular atrophy (SMA) are bringing Roche one step closer to breaking into the high-cost treatment area.
Roche's bid to rival Biogen and Novartis in treating spinal muscular atrophy (SMA) got a lift on Monday when the Swiss drugmaker said its drug risdiplam improved motor function in a key study.
Roche's bid to rival Biogen and Novartis in treating spinal muscular atrophy (SMA) got a lift on Monday when the Swiss drugmaker said its drug risdiplam improved motor function of patients in a key study.
Roche today announced positive data from the pivotal Part 2 of SUNFISH, a study evaluating risdiplam in people aged 2-25 years with Type 2 or 3 spinal muscular atrophy (SMA).
(IOS Press) A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more. These findings prove the efficacy of Nusinersen beyond types and age groups, paving the way for adult treatment.
A total of 19 participants including clinicians, newborn screening specialists, economists, geneticists, patients and patient advocates, and industry representatives from 12 countries convened from the May 12-14, 2019 in Hoofdorp, The Netherlands, for the 244th ENMC International Workshop, on the topic newborn screening (NBS) for spinal muscular atrophy.
Conclusion: Our data suggest that a regular examination of routine CSF parameters in patients in which intrathecal ASOs are administered is important to obtain information on possible side effects and to gain further insights into intrathecal processes.
Preimplantation genetic testing for the monogenic disorder (PGT-M) spinal muscular atrophy (SMA) is significantly improved by supplementation of SMN1 deletion detection with marker-based linkage analysis. To expand the availability of informative markers for PGT-M of SMA, we identified novel non-duplicated and highly polymorphic microsatellite markers closely flanking the SMN1 and SMN2 duplicated region. Six of the novel markers within 0.5 Mb of the 1.7 Mb duplicated region containing SMN1 and SMN2 (SMA6863, SMA6873, SMA6877, SMA7093, SMA7115, and SMA7120) and seven established markers (D5S1417, D5S1413, D5S1370, D5S1408, ...
Conclusions: In SMA type 2 and 3 patients undergoing radiological imaging-assisted injections, the effective dose and DAP decreased during therapy with nusinersen. The mean effective dose in patients with spondylodesis was higher than that in patients without spondylodesis. Dosimetry should be monitored carefully in order to detect and prevent unnecessary radiation exposure.
To cure the previously incurable we must take two giant steps: the first towards better understanding the science behind a cure, and the second towards ensuring accessibility for those people in need of the treatment. Although there is still much to discover, we got the science right some time ago. The first gene replacement therapy – Gendicine (Shenzhen SiBiono GeneTech) – was approved in China in 2003 and has been successfully administered to more than 30,000 patients with head and neck squamous cell carcinoma. A single dose of this medication costs $400. Another example of early ...