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Spinal Muscular Atrophy

John Brandsema, MD of Children's Hospital of Philadelphia

Spinal Muscular Atrophy Spotlight

The introduction of 3 FDA-approved therapies for spinal muscular atrophy is enabling clinicians to treat the disease completely different from how it was handled in the past.

Balancing Hopes for a Cure for SMA, DMD With Realistic Expectations

September 21st 2022, 3:25pm

Article

A new study looks at the balancing act physicians and families must carry out when managing expectations at a time of great scientific advancement in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).

Inspiratory Muscle Loading May Be Meaningful Therapy in SMA

September 10th 2022, 11:46am

Article

This study suggests that the diaphragm may fare differently from other muscles in spinal muscular atrophy (SMA).

Existing SMA Scales Lack Responsiveness to Patient Changes, Study Finds

September 6th 2022, 3:46pm

Article

A new therapeutic paradigm has heightened the need for meaningful measures of assessing patients.

Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies

September 2nd 2022, 6:15pm

Article

As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool for guiding research discussions.

Nusinersen Linked With Modest Improvements in Adult SMA

August 26th 2022, 1:45pm

Article

The patients, from 5 referral centers, were followed for at least 6 months and showed modest improvements in both motor and functional scales when treated with the antisense oligonucleotide for spinal muscular atrophy (SMA).

First Known Case of Rare Immunological Syndrome After SMA Gene Therapy Reported

August 16th 2022, 8:15pm

Article

The case describes hemophagocytic lymphohistiocytosis (HLH), which occurred in a young boy in Italy with spinal muscular atrophy, who was treated with onasemnogene abeparvovec.

New ANCHOVY Trial Data Highlight Benefits of SMA Therapy

August 6th 2022, 4:44pm

Article

New data show the stark contrast between untreated infants with type 1 spinal muscular atrophy (SMA) and those who received risdiplam.

Japanese SMA Screening Program Could Help Speed Therapy

August 5th 2022, 8:03pm

Article

Still, investigators say there are gaps in spinal muscular atrophy (SMA) screening protocol that need to be filled.

Nusinersen Leads to Broad Improvement in Children, Teens With SMA in Poland

July 29th 2022, 10:50am

Article

The study also found broad tolerability, with 98% of patients remaining on the therapy after 12 months.

Mild SMA Poses Diagnostic Difficulties for Clinicians

July 26th 2022, 11:13pm

Article

A new case report highlights the difficulties in pinning down spinal muscular atrophy (SMA) when it presents in a mild form.