Pediatric Sickle Cell Disease Drug Gains European Orphan Designation

Sancilio Pharmaceuticals announced that it has received the European Medicines Agency’s (EMA) Orphan Designation for its SC411 (which it plans to market as Altemia), a proposed treatment for sickle cell disease (SCD) in pediatric patients, in the European Union (EU). The FDA granted the proposed drug a similar designation—the Rare Pediatric Disease designation—in 2017.

“The pediatric population of sickle cell disease patients needs, and deserves, more therapeutic options, and we are excited about the opportunity to gain advice from the European Commission on advancing Altemia in the EU markets,” said Geoffrey Glass, CEO of Sancilio, in a statement.

SCD, a group of rare genetic disorders, is present in approximately 0.6% of the African American population in the United States and affects approximately 1 in every 300 to 500 African American newborns. SCD is caused by mutations in the hemoglobin beta gene, which result in dysfunctional hemoglobin and a depletion of certain lipids in the walls of blood cells. This depletion can lead to occlusion of blood vessels, organ damage, and stroke in children.

Sancilio’s proposed product consists of a mixture of lipids, delivered via a small, soft gelatin capsule intended to be administered once daily, to replenish the lipids destroyed by dysfunctional hemoglobin. The drug maker says that SC411 may treat SCD by decreasing blood cell adhesion, chronic inflammation, and red blood cell hemolysis, which in turn may also reduce the severe pain associated with SCD.

In November 2017, the company reported positive topline results for the drug in a phase 2, randomized, placebo-controlled trial in pediatric patients. The company said that the trial, comprising 68 patients with SCD, aged 5 years to 17 years, met its primary endpoint of change from baseline compared with placebo in blood cell membranes’ fatty acids concentration, and that statistical significance was demonstrated within 3 weeks of treatment. Within 8 weeks, statistically significant improvements in markers of coagulation, inflammation, and adhesions were observed, as was a reduction in crises related to vein occlusion. No serious adverse events were reported during the study.

Overall, 94% of the enrolled patients completed the study, and Sancilio says that “the majority” have opted to participate in the open-label extension that will continue to monitor the drug’s safety and effectiveness.

SC411, if eventually approved, could represent an important treatment option for pediatric patients with SCD; current therapies include blood transfusions, stem cell transplants, and hydroxyurea, a drug that helps to stimulate the production of fetal hemoglobin. In addition, in July 2017, the FDA approved L-glutamine (Endari) for the treatment of patients with SCD aged 5 years or older. While the mechanism of action of L-glutamine in treating SCD is not understood, clinical trials demonstrated that patients receiving the therapy had fewer painful crises compared with patients who received placebo.