California's BioMarin Pharmaceutical announced positive results from a trial of the oral drug 6R-BH4 in patients with sickle cell disease. In the trial, 6R-BH4 was associated with improvement in endothelial dysfunction. BioMarin says that future development plans may study the relationship between endothelial dysfunction and the frequency and severity of sickle cell crises.
Emil Kakkis, M.D., Ph.D., CMO of BioMarin stated, "We are very encouraged by the study results as it suggests that the known severe endothelial dysfunction present in sickle cell disease patients is due to an acquired BH4 deficiency and is responsive to 6R-BH4 replacement therapy. Endothelial dysfunction in SCD is now believed to play a greater role in the pathophysiology of sickle cell vasoocclusive crises than had previously been realized. The ability to reverse this dysfunction with oral 6R-BH4 therapy represents a new opportunity to treat SCD."
- see BioMarin's release