Spinal Muscular Atrophy

The data showed that most doses of nusinersen were received on time while also underscoring the importance of being meticulous with the methodological approaches used with real-world databases for evaluating treatment patterns.

Data from 2 prospective studies showed correlations between impaired patient health-related quality of life (HRQOL) and disease severity, as well as correlations between the health of caregivers and their HRQOL and caregiver burden.

A new study aimed to assess the quality and reliability of videos uploaded to YouTube that provide information around spinal muscular atrophy (SMA).

As of September 2022, all but 2 states had implemented newborn screening programs for spinal muscular atrophy (SMA), accounting for 98% of births in the United States.

Patients with spinal muscular atrophy (SMA) could have improved monitoring and assessment of their disease through the utilization of patient-reported outcome measures.

A study found that screening for spinal muscular atrophy (SMA) in newborns paired with early access to disease-modifying therapies was effective in alleviating the burden and comorbidities of the disease.

Qualitative interviews conducted with caregivers of children with spinal muscular atrophy (SMA) found that the symptoms with the greatest effect on disease burden were not always the most prevalent symptoms in patients.

Pediatric and adult patients with a diagnosis of spinal muscular atrophy (SMA) benefitted from nusinersen treatment in that they were able to prolong their walking time.

The diagnosis and treatment of a rare disease like spinal muscular atrophy (SMA) would benefit greatly from using implementation science to reduce the variation that exists in screening and therapy, according to researchers.

Patients who receive a diagnosis of spinal muscular atrophy (SMA) require an empathetic approach from their primary care physician when receiving the diagnosis and evaluating options, according to recent study findings.

New study findings show that internalized problems such as anxiety and depression were found at higher levels in children and infants who had a diagnosis of spinal muscular atrophy (SMA).

The findings, which the researchers say highlight the importance of early diagnosis and initiation of treatment, come amid efforts to determine efficacy trends among the several treatment options for the condition.

The most-read spinal muscular atrophy (SMA) articles of the year touched on novel SMN1 gene detection, treatment advances, and the diagnostic difficulty encountered by some adult patients with SMA.

The findings, say the researchers, confirm that repeated intrathecal injections of the gene-targeting therapy are safe, adding to the limited data on the long-term effect and safety of the treatment approach in neurological diseases.

Drawing on findings from other countries, including the United States, the group is highlighting the need for a newborn screening program to mitigate these current barriers.

The new report is based on real-world data from a patient registry and shows some patients even regain motor function under treatment with nusinersen for spinal muscular atrophy (SMA).

Detailing findings from the secondary end points of the FIREFISH trial at 24 months, the researchers found that risdiplam treatment was associated with continued improvements in motor function and the achievement of development motor milestones.

Using data from patients with spinal muscular atrophy (SMA) type 1 and 2, researchers observed that chitotriosidase 1 levels in cerebral spinal fluid (CSF) changed over time after treatment with nusinersen, suggesting that the change could be indicative of treatment response.

The child living with spinal muscular atrophy (SMA) type 2 had less fatigue and improved functional scores as time went on.

This new report also shows the value of national databases tracking the use of ventilation support.

The new data suggest risdiplam can be a viable option for people with spinal muscular atrophy who cannot take or tolerate the 2 other approved disease-modifying therapies.

Leptin merely correlated with body mass index, the study found.

The study could provide an important baseline of what the disease looked like before the advent of disease-modifying therapies.

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).

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

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

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.

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).

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