Spinal Muscular Atrophy (SMA)


treating spinal muscular atrophy

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.…
sinal muscular atrophy

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…
Hagit Baris-Feldman

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

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.…

SMA Clinical Insights

PAH experimental 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…