September is National Sickle Cell Awareness Month, a time to refocus our efforts on finding new treatments, and even a cure, for people with sickle cell disease. Until we do, CIRM remains committed to doing everything we can to reduce the stigma and bias surrounding it.
More on sickle cell disease
Sickle cell disease (SCD) is a rare, inherited blood disorder in which normally smooth, round red blood cells can become sickle-shaped and harden. These blood cells can clump together and clog up arteries, causing severe and unpredictable bouts of pain, organ damage, vision loss and blindness, strokes, and premature death.
There is a cure: a bone marrow transplant from someone who is both a perfect match and doesn’t carry the SCD trait. However, few patients can find that perfect match, and even when they do, the procedure carries risks.
CIRM-funded research
That’s why the California Institute for Regenerative Medicine (CIRM) has invested almost $60 million in 14 projects, including five clinical trials targeting the disease. It’s also why we are partnering with the National Heart, Lung and Blood Institute (NHLBI) in their Cure Sickle Cell Initiative (CureSCi).
As part of National Sickle Cell Awareness Month events, the NHLBI is launching the Gene Therapy to Reduce All Sickle Pain (GRASP) Trial and hosting a special Journeys in Mental Health Webinar on September 27th.
The GRASP Trial is a Phase 2 trial that will take place at various locations throughout the country. It’s a collaboration between the NHLBI and CIRM. Researchers are testing whether a gene therapy approach can improve or eliminate sickle cell pain episodes.
Shortly after birth, babies stop producing oxygen-rich fetal hemoglobin and instead produce blood with the adult hemoglobin protein. For children with sickle cell disease, the transition from the fetal to the adult form of hemoglobin marks the onset of anemia and the painful symptoms of the disorder.
Promising approaches
Scientists previously discovered that the BCL11A gene helps control fetal hemoglobin, and that decreasing its expression can increase fetal hemoglobin while reducing sickle hemoglobin in the blood. This could boost the production of normal-shaped red blood cells, with the goal of curing or reducing the severity of sickle cell disease.
The approach used in this trial is similar to a bone marrow transplant, but instead of using donor stem cells, this uses the patient’s own blood stem cells with new genetic information that instructs red blood cells to silence the expression of the BCL11A gene. Researchers are still studying this approach to ensure it is safe and effective, but it may reduce some of the risks of other therapies.
In this trial, patients will spend time in an inpatient unit as they undergo chemotherapy to kill some bone marrow blood stem cells and make room for the new, gene-modified cells to take root.
The trial is based on a successful pilot/phase 1 study that showed it was safe and effective in the first 10 patients enrolled.
For more information about the trial, including inclusion/exclusion criteria and trial locations, please visit the CureSCi GRASP trial page.
Nancy Rene, a sickle cell disease patient advocate, says while clinical trials like this are obviously important, there’s another aspect of the treatment of people with the disease that is still too often overlooked.
“As much as I applaud CIRM for the work they are doing to find a therapy or cure for Sickle Cell, I am often dismayed by the huge gulf between research protocols and general medical practice. For every story I hear about promising research, there is often another sad tale about a sickle cell patient receiving inadequate care. This shouldn’t be an either/or proposition. Let’s keep supporting groundbreaking research while we expand education and training for medical professionals in evidence-based treatment. I look forward to the day when sickle cell patients receive the kind of treatment they need to lead healthy, pain-free lives.”
