The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement without classic inflammatory features or erosive bone lesions, claw hand, spinal deformities or dysostosis multiplex. All such patients should be referred to a geneticist or metabolic specialist for diagnostic evaluation. The earlier the diagnosis is made, the better the potential outcome of treatment. Each type of MPS is associated both with deficient activity of a specific lysosomal enzyme that degrades specific glycosaminoglycans (GAGs) and with abnormalities in urinary GAG excretion. MPS patients usually excrete excess GAG in urine and/or have different relative proportions of types of GAG in urine as compared with age-matched normal subjects. Although urinary GAG analyses (both quantitative and qualitative) can suggest the most likely type of MPS, diagnosis must be confirmed by enzyme assay. Multiple assays may be necessary to identify the disease subtype. Correct identification of the MPS type is essential to guide treatment and management decisions.

The World Health Organization (WHO) has identified key viral pathogens that are high priority for research and development because of the potential for a major public health emergency with limited options to contain future outbreaks. Pathogens on the list include filoviruses (Ebola virus [EBOV]; Marburg virus [MARV]), coronaviruses (Middle East respiratory syndrome coronavirus [MERS-CoV], severe acute respiratory syndrome coronavirus [SARS-CoV]), paramyxoviruses (Nipah virus and Hendra virus), as well as other RNA virus families. Remdesivir (formerly GS-5734) is a single diastereomer monophosphoramidate prodrug of an adenine nucleoside analog that has potent, broad spectrum activity against filoviruses, coronaviruses, and paramyxoviruses. In vivo, remdesivir increased survival and/or attenuated disease burden and viral load in animals infected with EBOV, MARV, MERS-CoV, SARS-CoV, or Nipah virus even when the treatment initiation was delayed by several days post-infection. In nonhuman primate studies, remdesivir distributed into the genital tract, eyes, and to some extent the brain following intravenous administration, suggesting potential for antiviral effects in viral sanctuary sites. An ongoing clinical trial is investigating whether remdesivir can clear viral RNA from male survivors of Ebola virus disease (EVD) whose semen continued to be positive for EBOV. Remdesivir is currently undergoing investigation in a randomized controlled trial for the treatment of acute EVD in the Democratic Republic of the Congo. The drug product is also available for compassionate use treatment and post-exposure prophylaxis of the relevant viral infections. Importantly, the remdesivir drug product is available in a stable lyophilized formulation with a long shelf-life without reliance on cold chain infrastructure.