At the age of 19, Joe Tsogbe underwent his first hip replacement surgery due to complications from sickle cell disease.
Throughout his 20s, he faced an average of nine hospitalizations annually, a number that increased to over a dozen by his 30s.
Sickle cell disease is an inherited blood disorder where a genetic mutation causes red blood cells to adopt a crescent or “sickle” shape, leading to blockages in blood vessels, reduced blood flow, and severe pain episodes.
This condition predominantly affects around 100,000 individuals in the U.S., primarily those of Black descent.
Current treatments are limited, with the only potential cure being a bone marrow transplant, which requires finding a matching donor.
However, new genetic therapies are emerging to alleviate symptoms without necessitating donor matching.
In 2021, at the age of 37, Tsogbe participated in a clinical trial for exa-cel, a treatment co-developed by Vertex Pharmaceuticals and CRISPR Therapeutics.
This therapy utilizes CRISPR technology, a Nobel Prize-winning gene-editing tool, to modify DNA and mitigate the effects of sickle cell disease.
The U.S. Food and Drug Administration is expected to approve exa-cel by the end of this week, following the U.K.’s approval of the same therapy under the name Casgevy last month.
Additionally, U.S. regulators are reviewing another gene therapy, lovo-cel from Bluebird Bio, which is anticipated to receive approval later this month. These advancements mark significant milestones in medical science, nearly a decade after the discovery of CRISPR technology.
For Tsogbe and others like him, this treatment offers hope for relief from the debilitating symptoms of sickle cell disease.
By editing the patient’s genes, exa-cel aims to increase production of fetal hemoglobin, a protein that helps red blood cells maintain their normal shape.
This process involves extracting blood stem cells from the patient, editing them in a laboratory to enhance their function, and then reintroducing them into the patient’s bloodstream after a preparatory chemotherapy regimen.
While exa-cel represents a groundbreaking advancement, it is not without challenges. The treatment process spans several months, involving extensive medical procedures and hospital stays.
Moreover, there are potential side effects, including chemotherapy-induced infertility, which may limit its suitability for some patients.
Accessibility is also a concern, as exa-cel will likely only be available at specialized healthcare facilities due to its complexity.
Financially, exa-cel is expected to come with a hefty price tag, estimated around $2 million per patient.
Despite the high cost, this therapy could benefit tens of thousands of individuals affected by sickle cell disease in the U.S. and Europe, focusing initially on those with severe forms of the condition.
For Tsogbe, the decision to participate in the exa-cel trial has been life-changing. Since receiving the treatment, he has not experienced a pain crisis and has been able to pursue his passions more actively.
He credits the therapy with keeping him out of the hospital and allowing him to lead a fuller life, fulfilling a promise he made to his mother years ago when he vowed to find a cure for sickle cell disease.
“In a way, I kept my promise,” Tsogbe reflects, describing his journey from Togo to the U.S. and his transformative experience with exa-cel.
