Rose McNulty

Sensory nerve action potential amplitudes decreased as patients aged in a cohort of spinal muscular atrophy (SMA) type 1 patients compared with a healthy, age-matched control group.

A recent study aims to improve evaluation of fatty liver in ultrasound scans to increase hepatology referrals and predict significant liver fibrosis.

A small cohort of patients with acid sphingomyelinase deficiency (ASMD) showed higher rates of cancer compared with the general population, according to recent findings.

A recent review provides insight into the clinical progression of treatment-naive patients with spinal muscular atrophy type 3 who have lost ambulation.

This new analysis shows early diagnosis of some lysosomal storage disorders can help avoid irreversible damage across the board.

A retrospective observational cohort study of patients ranging in age from infants to adults provides real-world evidence that nusinersen is safe and effective for those with SMA1.

Uveitic macular edema is common in patients with noninfectious uveitis, and its significant burden on patients and payers warrants more specific treatment guidelines to minimize quality-of-life and economic effects.

Data on nusinersen’s safety profile in adult patients are more limited than in infant and adolescent patients, but a recent study showed positive results based on cerebrospinal fluid and blood sample parameters.

A recent review highlighted the importance of managing cardiovascular risk factors in patients with Fabry disease versus the general population.

A recent review examined the significant physical, social, emotional, and financial impacts of acid sphingomyelinase deficiency (ASMD) on patients and caregivers from an overall lifestyle standpoint

A small, single-center study determined that adequate support at home affected outcomes in motor ability more so than the first COVID-19 lockdown in Italy.

Results of a retrospective claims database analysis suggest that adherence to scheduled intrathecal nusinersen injections may lead to improvements in comorbidities, health care utilization, and costs for spinal muscular atrophy (SMA) types 1, 2, and 3.

Imaging studies and subsequent biopsies of a liver lesion showed a foamy macrophages aggregate in a 30-year-old patient with acid sphingomyelinase deficiency (ASMD) similar to those found in Gaucher disease.

As spinal muscular atrophy (SMA) treatments advance, new biomarkers that correlate with clinical outcomes are needed to gauge treatment response.

Multiple comorbidities and medications are prevalent in older cancer populations, who may benefit from structured medication reviews by specialist geriatricians.

The single-center study explored cerebrospinal fluid neurofilament and protein levels in patients with spinal muscular atrophy (SMA) undergoing treatment with nusinersen in an effort to identify useful biomarkers as treatment options expand.

Intrathecal drug administration via lumbar puncture and a spinal access port device led to serious complications in a patient receiving experimental therapy for Niemann-Pick type C.

Niemann-Pick type C has historically been considered a contraindication to liver transplantation due to neurological delays, but a recent case report suggests this thinking may be outdated.

A pan-cancer reference atlas provides a framework for an immune-based patient stratification that study authors expect to be predictive for patient prognosis and immunotherapy response at an elevated level after further studies.

The MScanFit method assessed changes in motor unit configuration in adult patients undergoing treatment for spinal muscular atrophy (SMA).

A review of current molecular and electrophysiological biomarkers in spinal muscular atrophy (SMA) concluded that more exploration is necessary to find noninvasive, yet accurate, measures of disease progression and therapy response.

Autologous tumor lysate particle-loaded dendritic cell (TLPLDC) vaccination is well-tolerated in combination with other immunotherapies, but further research is needed to confirm its efficacy.

A recent study compared intelligence quotient test scores between adult patients with spinal muscular atrophy (SMA) and healthy adults.

New retrospective research found that basal and squamous cell cancers increased by 30% over 15 years.

A novel indwelling subcutaneous intrathecal catheter circumvented the complex spine anatomy of patients with spinal muscular atrophy (SMA), a challenge when giving nusinersen via intrathecal injection.

A large cohort study aimed to find out whether tumor-infiltrating lymphocytes, an important biomarker in melanoma, could be an independent prognostic factor for overall survival.

A review of advances in spinal muscular atrophy (SMA) identification and treatment highlights areas where there is room for improvement.

A retrospective study on the combination of a vascular endothelial growth factor receptor inhibitor plus programmed cell death-1 blockade added to evidence of efficacy in early trials.

Biomarkers for spinal muscular atrophy are needed to further analyze treatment efficacy, and a recent study points to serum neurofilament light chain levels as a possible option.

Pain is a hallmark of many Fabry disease cases, and improvements in management could dramatically improve quality of life for patients.