Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD

Excerpt

We read with great interest the article by Fremond et al. [1] reporting their experience with JAK1/2 inhibitors in a cohort of Aicardi-Goutières Syndrome (AGS) patients (n = 11). The reported clinical and radiological features, Type I interferon (IFN) signatures and pharmacokinetics of Janus Kinase Inhibitors (JAKi) in cerebrospinal fluid (CSF) and plasma samples greatly contribute to the understanding for this rare condition [1]. We would like to add data from a case presenting with a homozygous ACP5 mutations (spondyloenchondrodysplasia with immune dysregulation (SPENCD- OMIM#607,944)), which is classified as an AGS mimicker due to some degree of phenotypical overlap between the syndromes [2]. To date, there are no reports of CSF baricitinib measurements in SPENCD patients. …