New Clinical Trial Offers Path to Sickle Cell Cure

The most recent results from a clinical trial were given by researchers in an effort to find a cure for sickle cell disease, a painful genetic blood illness that has few available treatments.

At the European Hematology Association 2024 Hybrid Congress (EHA) in Madrid, Spain, researchers presented data on the safety and efficacy of renizgamglogene autogedtemcel (reni-cel, formerly known as EDIT-301), an experimental one-time gene editing cell therapy, among its 18 patients. The study was conducted as part of the multicenter RUBY Trial.

This ground-breaking therapy fixes the sickle cell disease-causing mutation by altering the patient's own blood-forming stem cells.

The 18 kids, two of whom had care at Cleveland Clinic Children's, experienced a process that involved the initial extraction of their stem cells to perform gene editing. Following that, they had chemotherapy to remove any leftover bone marrow, creating space for the restored cells to be reinfused into their bodies.

There were no significant side effects observed, and the medication was well tolerated. All patients effectively recovered their platelets and white blood cells after treatment. Crucially, every patient has not experienced any painful episodes after therapy, and anemia has resolved in those who have been observed for at least five months.

It is encouraging that this gene-editing treatment continues to show promising efficacy for sickle cell patients, these latest results offer hope that this new experimental treatment will continue to show progress and get us closer to a functional cure for this devastating disease.”

Rabi Hanna, M.D., Chairman, Division of Pediatric Hematology Oncology and Blood and Marrow Transplantation, Cleveland Clinic Children’s

The trial's first application of CRISPR/Cas12a gene-editing technology in human research to modify the sickle cell disease-causing gene is noteworthy. The genomes of blood stem cells are altered with this precise instrument to promote robust and healthy blood cell generation.

About 100,000 people in the US suffer from sickle cell disease, whereas between one million and three million people have the sickle cell trait. Sickle cell disease affects 1 in 365 newborns born in African American communities, which is one of the ethnic groups where this trait and illness are more prevalent.

A genetic blood condition known as sickle cell disease results in red blood cells that are malformed into sickles. Round in shape, normal red blood cells easily transport oxygen through blood capillaries.

Sickle cell disease is characterized by aberrant red blood cells that obstruct blood flow and fragment readily, resulting in severe discomfort, difficulties with the liver and heart, and a reduced life expectancy, usually ending in the mid-40s. Drugs can help control the condition, but a blood or bone marrow transplant, which carries dangers and frequently needs a sibling donor, is the only way to cure the illness.

Video Credit: Cleveland Clinic