Brian Murphy, PhD

Brian Murphy, PhD

Brian Murphy, PhD, is a medical/science writer and educator who has written over 300 resource articles about rare diseases. He holds a BS from Georgia Institute of Technology and a PhD from Case Western Reserve University, both in Biomedical Engineering. After graduation, Brian worked as a clinical neural engineer to help restore movement in spinal cord injured patients by reconnecting their brain to their paralyzed muscles using experimental medical devices. In addition to resource pages, Brian has also authored/co-authored several research articles in journals including The Lancet, Journal of Neural Engineering, and PLOS ONE.

All articles by Brian Murphy, PhD

Improved Motor Function With Nusinersen Observed in SMA Patients

Treatment with nusinersen (Spinraza®) improves motor function in adult and pediatric patients with type 2 and 3 spinal muscular atrophy (SMA), according to a new meta-analysis study published in the Orphanet Journal of Rare Diseases. All of the studies reviewed reported an increase in Hammersmith Function Motor Scale Expanded (HFMSE) for treated patients, and the…

PAH May Be a Side Effect of Carfilzomib in Rare Cases

Two case reports highlight drug-induced pulmonary arterial hypertension (PAH) as a rare possible side effect of carfilzomib use in multiple myeloma patients. The reports were published in Pulmonary Circulation. Both patients presented with severe dyspnea and transthoracic echocardiograms (TTE) revealed elevated right ventricular systolic pressures (RVSP) after multiple treatments with carfilzomib. The first patient’s PAH…

Spinraza

No Correlation Found Between Treatment Delays and Functional Scores in SMA Patients

A new study found no correlation between delayed treatment due to the COVID-19 pandemic lockdown and a change in functional scores in children and adolescents with spinal muscular atrophy (SMA) in Italy. Due to the lockdown, 8 out of 25 patients (32%) experienced delays (median, 58 days; range 26-91) in their infusions of nusinersen, but…

Meta-Analysis Further Highlights Effectiveness of Gene Therapies in SMA

A meta-analysis of preclinical gene therapy trials in spinal muscular atrophy (SMA) mouse models revealed that treated mice had a 3.23-fold increase in survival duration compared to controls. The results of the study, published in Gene Therapy, showed that this increased survival was observed for both nusinersen (Spinraza®) and onasemnogene abeparvovec-xioi (Zolgensma®) in preclinical trials…

LAL-D Patient Education

Lysosomal Acid Lipase Deficiency May Affect Fetuses in Utero

Lysosomal acid lipase deficiency (LAL-D) begins affecting fetuses in utero and quickly exacerbates after birth, according to results published in the International Journal of Molecular Sciences. The study, performed in Lal knockout (Lal-/-) mice, showed that LAL-D alters lipid homeostasis in the placenta and unborn fetuses. The altered lipid homeostasis resulted in cholesteryl esters (CE)…

Fenofibrate Degrades Myostatin and Helps Protect Muscles in DMD Models

Fenofibrate showed therapeutic effects in Duchenne muscular dystrophy (DMD) models, according to a new study published in the British Journal of Pharmacology. During the study, treatment with fenofibrate improved muscle function and reduced muscle damage in mdx mice, the most common DMD animal model. The study showed that fenofibrate inhibited the expression of myostatin protein…

LCFAOD diagnosis

Newborn Testing Reveals Higher Incidence of Fatty Acid Disorders

An increased incidence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) was found after its addition to the expanded neonatal screening program (ENBS) of Czechia, according to a new study published in the journal Nutrients. LCHADD is a form of long chain fatty acid oxidation disorder (LCFAOD) and prior to ENBS, 12 children were identified with…

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