Pfizer Inc. (NYSE:PFE), the National Newspaper Publishers Association (NNPA), and scholars from Howard University today announced results from a new national poll designed to deepen understanding and gauge perceptions around sickle cell disease (SCD) among African Americans. The poll, which included responses from adults in the US who self-identified as African American, revealed that while the majority of respondents were familiar with SCD and understood the disease in general, only one-third (36%) were aware that it disproportionately affects people of African descent,1 demonstrating a critical need for education and awareness.

The California Institute for Regenerative Medicine has awarded MATTHEW PORTEUS, associate professor of pediatrics, a grant of $5.2 million to lay the groundwork for a clinical trial of a possible treatment for sickle cell disease.

Porteus has shown that he can take human blood stem cells with the gene defect that causes sickle cell disease and use gene-editing tools to repair the faulty gene. He also showed that he could successfully transplant those repaired blood stem cells into mice.

“We are extremely excited that, with CIRM support, we may be able to use gene correction to treat this terrible disease,” Porteus said.

Tim Townes has a dream. He has a dream that one day in Alabama, he will see four little girls sitting on the steps of the Sixteenth Street Baptist Church in Birmingham. Townes dreams that on Martin Luther King Jr. Day two years from now, national television news shows will trumpet the story of those girls, healthy and no longer ravaged by sickle cell disease. He dreams of seeing that kind of good news on an important civil rights anniversary – instead of well-worn footage of the Sixteenth Street bombing in 1963 that killed four little girls, or marchers beaten on Selma’s Edmund Pettus Bridge. “I think Alabamians could really be proud of that and I think would want to work toward that,” says Townes, a Ph.D., director of the UAB Stem Cell Institute and chairman of the Department of Biochemistry and Molecular Genetics.

The Patient-Centered Outcomes Research Institute (PCORI) Board of Governors today approved about $18 million to fund two studies comparing different ways to manage the transition of people with sickle cell disease from pediatric to adult care.

Although children with sickle cell disease generally receive the care they need to manage their condition, the transition to adult care can be hazardous. Many primary care clinicians who treat adults are unfamiliar with caring for this rare condition, and patients can find it challenging to access care across specialists. Losing a source of care, such as pediatric specialty care, decreases the likelihood that young adults with sickle cell disease will receive preventive care and screening visits, and it increases the chance they will seek emergency department care when painful symptoms flare.

Sancilio Pharmaceuticals Company, Inc. (SPCI) today announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation to Altemia™ Soft Gelatin Capsules for the treatment of sickle cell disease (SCD) in children. Altemia™, a leading development program for SPCI, is being developed as an oral, once-a-day formulation for children between the ages of 5 – 17 with SCD. "The FDA's Rare Pediatric Disease designation for Altemia™, in addition to the previously granted Orphan Drug Designation, further stresses the Agency's recognition that the SCD community faces a critical need for new treatments like Altemia™," said Dr. Frederick Sancilio, President and Chief Executive Officer of SPCI. "We continue to make important progress in our clinical trial; a randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of Altemia™ in pediatric patients. We look forward to reporting top-line results from the study early in the fourth quarter, this year."

With drug overdoses now the leading cause of accidental death in the U.S., efforts are underway in many states to limit abuse and access to prescription opioids — steps that, some say, could cause unnecessary suffering among sickle cell disease (SCD) patients who rely on these medications to treat their symptoms. “I’m seeing more and more patients calling me or coming in and saying they’re in so much pain and have been taken off the narcotics they have been receiving for years,” said Judy Anderson, executive director of the Sickle Cell Association in Norfolk, Virginia, an education and advocacy organization.

For decades physicians have known that a few children like Ceniya have unusual genetic mutations that counteract the effects of the sickle-cell flaw. Researchers would like to re-create their uncommon physiology in everyone with sickle-cell anemia. Though not technically a cure, the compensatory treatment would spare many of the 300,000 infants around the world who are born every year with sickle cell and who often do not live beyond childhood. It would also make life a lot easier for the more than 70,000 individuals living with the disease in the U.S., who, despite treatment that mitigates some of the most serious effects of the condition, often die in their 40s. Investigators are now beginning to test such approaches, which depend on the precise alteration, or editing, of certain genes using new techniques in genetic engineering. (As will be addressed shortly, providing the compensatory mechanism should be easier to achieve than fixing the original sickle-cell genetic defect.)

Researchers have developed an accurate, low–cost potential test for diagnosing people with sickle cell anemia. The test, based on a lateral flow strip, is designed for use in areas where SCA treatment exists but testing methods are inaccessible, such as sub-Saharan Africa, where SCA is prominent. While researchers were optimistic about the results, they recommended further testing to ensure the test’s reliability in warm climates and in the field. The study, “Towards a point-of-care strip test to diagnose sickle cell anemia,” was published in PLOS One.

A new pre-transplant conditioning regimen remarkably improves rejection rates and survival in children with sickle cell disease (SCD), according to the results of Phase 1/2 trial (NCT00920972). The study, “Unrelated Umbilical Cord Blood Transplantation for Sickle Cell Disease Following Reduced Intensity Conditioning: Results of a Phase I Trial,” appeared in the journal Biology of Blood and Marrow Transplantation. Transplanting hematopoietic stem cells (cells that can develop into any type of blood cell) from matched sibling donors results in disease-free survival of greater than 90% in SCD patients. However, only about 18% of patients have suitable sibling donors. Therefore, unrelated umbilical cord blood transplant (UCBT), which has been performed to treat diseases such as inherited metabolic disorders and primary immunodeficiency, became a viable alternative for patients with severe sickle cell disease and without a matched family donor.

Olamide Orekunrin was studying to become a doctor in the UK a few years ago when her younger sister fell seriously ill while traveling in Nigeria. The 12-year-old girl, who'd gone to the West African country on holiday with relatives, needed urgent care but the nearest hospital couldn't deal with her condition. Orekunrin and her family immediately began looking for an air ambulance service to rapidly transport the girl, a sickle cell anemia sufferer, to a more suitable healthcare facility. They searched all across West Africa but were stunned to find out there was none in the whole region.