The top 5 most-read stories about spinal muscular atrophy (SMA) of 2020 on AJMC.com focused on a new treatment option for SMA and whether gender or gene mutations have any effects on the disease.
The top 5 most-read stories about spinal muscular atrophy (SMA) of 2020 on AJMC.com took a broad look at emerging treatment options for patients with SMA and gave insight into the potential role that gender and genetic mutations play in the disease.
Three of the top stories focused on current and emerging therapies for SMA, including the European Medicines Agency’s (EMA) acceptance of a marketing authorization application for risdiplam (Evrysdi). Another story discussed the potential that newfound genetic mutations can have on SMA onset.
Lastly, Jill Jarecki, PhD, explained in an interview whether SMA severity has any connection to a patient’s gender.
5. Improved Treatment Options for SMA Present New Opportunities, Challenges
This year, a review outlined that multiple therapeutic options have changed the landscape of SMA treatment. However, there remains a need for additional treatments and better methods of predicting treatment response. Evidence has shown the therapeutic benefits of using FDA-approved drugs, such as nusinersen (Spinraza), risdiplam, and onasemnogene abeparvovec-xioi (Zolgensma), but there are still other therapies in the pipeline to keep an eye on, including reldesemtiv, SRK-015, and the use of therapeutic biomarkers.
4. Researchers Identify Novel Mutations in SMA
A study published in November identified additional mutation in both SMN1 and other genes, some of which could be associated with SMA onset. Researchers analyzed blood sampled from 28 families of patients with suspected SMA, finding that 22 had homozygous deletion of SMN1 exon 7 and 3 carried heterozygous SMN1 exon 7 deletion. Although these mutations have been found in previous research, researchers suggested that they may be associated with SMA morbidity because of their much higher prevalence in patients with SMA compared to patients without SMA.
3. After FDA Approval, EMA Accepts Marketing Authorization Application for First Oral SMA Therapy
Just 10 days after the FDA approved risdiplam the first oral therapy for SMA, the EMA said that it accepted an application for marketing authorization for the drug. Currently, risdiplam is approved to treat patients 2 months and older with SMA in the United States. The application submission was based on efficacy and safety data from 2 clinical studies for the treatment of patients with infantile-onset and later-onset SMA.
2. Researchers Outline Promising Future for SMA, DMD With Emergence of Gene Therapies, ASOs
Researchers published an overview of how current treatment options for SMA and Duchenne muscular dystrophy (DMD) have set up a promising future for patients. The FDA approval for onasemnogene abeparvovec-xioi along with additional small molecule and gene therapies that are in development have transformed precision medicine for neuromuscular disorders during the past decade, according to the authors.
1. Dr Jill Jarecki Discusses Whether Gender Affects SMA Severity
In an interview with AJMC.com, Jill Jarecki, PhD, chief scientific officer at Cure SMA, discussed whether gender has any impact on the severity of SMA. Jarecki explained that data has shown SMA to affect men and women equally, showing that incidence between the 2 genders is 50/50. She also expressed that gender may contribute to more subtle differences that can’t be detected through current data as of yet.