Genetic Links to PML Identified, MARINA Trial Findings Announced, Educational Videos Improve CPAP Adherence

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Welcome to this special edition of Neurology News Network. I’m Marco Meglio.

For the first time, researchers have identified genetic variants that are associated with an increased risk of progressive multifocal leukoencephalopathy (PML), a rare and often lethal brain disorder that develops in a wide range of immunosuppressed groups and can occur as a serious adverse event from exposure to immunosuppressives.1, Overall, in individuals taking PML-inducing medications, having at least 1 of the 4 identified genetic variants increased the risk of PML 8.7 times on average, with 1 specific variant increasing it 33-fold. Previously, the investigators of the study explored the possibility of genetic predisposition to PML in the largest genetic study to date, whole-exome sequencing of 184 PML cases. That study identified 19 rare genetic variants in immune-modulating genes that were more common in this patient population. In the new analysis, an additional 152 cases of PML were included, bringing the total number to 336. Importantly, this study, for the first time, compared 110 drug-exposed PML cases to 718 drug-exposed controls who took PML-linked therapies for at least 2 years.

Avidity Biosciences has announced preliminary findings from its phase 1/2 MARINA trial of AOC 1001 in myotonic dystrophy type (DM1), showing the first-ever successful targeted delivery of siRNA into muscle, a tissue previously untreatable with existing RNA therapeutics.In addition to a successful delivery of siRNA to muscle, investigators also observed meaningful reduction in DMPK, a disease-related mRNA, in all participants treated with the agent. The newly released data further reinforce the broad and disruptive potential of the company’s Antibody Oligonucleotide Conjugates (AOC) platform and expands the ability to address targets and diseases previously unreachable with existing RNA therapies. The agent consists of a proprietary monoclonal antibody that binds to the transferrin receptor 1 (TfR1) conjugated with an siRNA-targeting DMPK mRNA. Additionally, the agent has also received fast track designation from the FDA and orphan drug designations from the FDA and European Medicines Agency.

Published in the Journal of Clinical Sleep Medicine, findings from a study of treatment-naïve adults with obstructive sleep apnea (OSA) suggest that using low health literacy-designed educational videos (EVs) can improve adherence to continuous positive airway pressure (CPAP) treatment.Led by Claire M. Ellender, BSc, MBBS, FRACP, respiratory and sleep physician, Princess Alexandra Hospital, Brisbane, Queensland, the addition of low-cost audio-visual EVs led to 3.66 hrs/night of CPAP usage at month 12, which was significantly greater than the 2.50 hrs/night for those on standard-of-care (SC) education. A total of 195 patients were randomly assigned 1:1 to either usual SC (n = 99) or SC plus 5 EVs (n = 95) showing a patient’s journey, designed with low health literacy communication techniques to teach patients about OSA and CPAP therapy. The cohort had a mean age of 57 years, with no statistically significant between-group differences in patient characteristics at baseline.

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