The intravenous infusion of these cells in patients with BPDCN is in phase 1 clinical trials but in September 2017, the Federal Drug Administration suspended these because one patient developed a Grade 5 (i.e. lethal) cytokine release syndrome (see UCART123#CAR-T cancer treatment). The suspension was lifted in November 2017 after the trial used reduced amounts of the cells and with additional conditions were applied. A new phase 1 clinical trial is now recruiting 76 new patients to study the safety and efficacy of UCAR123 in treating BPDCN. The study began in June 2017 and is scheduled to end in December 2021. Venetoclax
BCL-2 is a cellular protein that can act to inhibit cell death due to apoptosis. The BCL-2 gene appears to be one of the most up-regulated (i.e. overactive) genes in BPDCN. Venetoclax inhibits the apoptosis-inhibiting action of BCL-2 and proved active in treating two patients with relapsed or refractory BPDCN. A phase I clinical trial testing the safety and efficacy of the drug in BPDCN is planned but not yet in its recruiting phase. == References ==
Newborn screening expanded the potential phenotypes associated with SPCD, to include otherwise asymptomatic adults. References
External links

GeneReviews/NCBI/NIH/UW entry on Systemic Primary Carnitine Deficiency