Latest News
Lessons Learned From a Pilot Program for SMA Newborn Screening
Improved Motor Function With Nusinersen Observed in SMA Patients
Subcutaneous Intrathecal Catheter Administration of Nusinersen in SMA Examined
No Correlation Found Between Treatment Delays and Functional Scores in SMA Patients
Meta-Analysis Further Highlights Effectiveness of Gene Therapies in SMA
Nusinersen Can Preserve Bulbar Function in SMA Patients
Phase 3 Trial of Apitegromab for SMA Planned Based on Positive Study Results
SMA Patients Treated With Risdiplam Maintain Ability to Swallow
MicroRNAs Could Serve as Prognostic Biomarkers in SMA
Latest Clinical Trials
Features
Treating Spinal Muscular Atrophy: Recent Clinical Insights
Several recently published studies may help enhance our treatment of spinal muscular atrophy (SMA). Review key points of some of them below. Evaluating a Novel Myostatin Inhibitor as an SMA Treatment A new article in Advances in Therapy describes a phase 1 trial of a monoclonal antibody intervention being developed as a treatment for SMA1.…
Understanding Spinal Muscular Atrophy: Recent Clinical Insights
There have been several recent publications related to spinal muscular atrophy (SMA). Below is a summary of some pieces that add to our understanding of the disease. Identifying Modifiers of SMN Proteins A study out of Bethesda, Maryland, published in Cell Reports, aimed at investigating the mechanisms by which survival motor neuron (SMN) proteins are…
Israel Emerges as Global Powerhouse in Rare Disease Research
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Patient Perspectives
SMA Care Team Communication Can Be the Difference Maker in Patient Outcomes
Surgery and a feeding tube helped me rebound from weight loss that was affecting my breathing. Could better communication between my care team members have helped me avoid the feeding tube altogether? Often, when I tell people I have spinal muscular atrophy (SMA), they’ve never heard of it, whether they’re health care professionals or not.…
Physicians Need Self Education on Rare Diseases to Serve Their Patients’ Needs
For many Americans with rare diseases, they live in a far-off town at the boundaries of a city’s edge. Towns where few families live, and where most likely those same families are the ones they’ve known their whole life. There’s only a handful of doctors caring for the town’s populace, and chances are, there isn’t…
SMA Clinical Insights
Therapeutic Frontiers in Managing Spinal Muscular Atrophy Type 1
The thrust of medical progress in treating SMA type 1 is now to bring it into the realm of rare but manageable diseases.
SMA Biomarkers as Gateways to Better Clinical Care
Through the combined efforts of researchers, key biomarkers of spinal muscular atrophy have been identified.
Breaking Down the Genetics of SMA to Develop Treatment Options
Researchers conducted a review of what we know about SMA genetics and how that impacts the development of genetic therapies.
Carrier Screening for Autosomal Recessive and X-Linked Conditions
Medicine as it is understood today is an umbrella term that covers the detection, diagnosis, management, and prevention of disease. It is, rightly so, akin to a broad kitchen in which there can never be too many cooks. As physicians debate how best to treat genetic rare diseases, (such as Duchenne muscular dystrophy, spinal muscular…
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