a single injection treatment offers hope of curing patients with sickle cell anemia

A major medical breakthrough. Even the most cautious doctors now mention the word “healing” for the most common genetic disease in the world and in France: sickle cell disease, which is World Day on June 19. After the United States and Great Britain, in France, the High Health Authority should authorize, in the coming weeks, an innovative drug which allows hope of recovery in a single injection.

Sickle cell disease affects 30,000 patients in France and yet little is known about this disease. It’s a blood disease. It is accompanied by crises that cause excruciating pain. Cathy Aristil was diagnosed 20 years ago. She recently broke her nose and explains that a fracture is less painful than a sickle cell crisis: “It’s extremely intense pain. It can hurt the bones. It can hurt the muscles, the chest, the head, anywhere you have joints, bones and muscles. Sometimes the The pain is so intense that you can no longer move and it means repeated hospitalizations.”

To calm a crisis, a simple paracetamol is not enough. You need morphine or opioids. Sickle cell disease affects life expectancy: 40 years on average. It mainly affects people with black skin. Until now, there was one possibility of cure: a bone marrow transplant, but it was necessary to find a compatible brother or sister.

Now there is this medicine: Casgevy. A gene therapy that could change everything, explains Professor Pablo Bartolucci, specialist in sickle cell anemia: “This is clearly a turning point in medicine. The results are very promising. With a follow-up of 18 months, there are 94% of patients who have not had an attack. This is perhaps and probably a cure “I’m simply saying that, to really speak of a cure, we will have to wait five years. The effects are sufficiently spectacular for it to be a huge hope for patients.” Professor Bartolucci’s team at Mondor hospital in Créteil is ready. She will offer this treatment to certain patients, not the most seriously affected or least affected by the disease, but those who are in the middle.

The particularity of this treatment is that it is a gene therapy which uses a cutting-edge technique: a gene therapy which uses the Crispr Cas9 molecular scissors. A process rewarded by the Nobel Academy in 2020. This would be the first time that it has been authorized in France. Doctors take stem cells from the patient and send them to a laboratory in Scotland. There, the cells are modified using the molecular scissors technique. Then they are reinjected into the patient.

A process which allows us to speak of healing to such an extent that the Mondor hospital has planned sessions with a psychologist for patients who will benefit from it. Sessions to prepare for healing, explains Cathy Aristil who is an expert patient and works with the hospital: “The patient must have support because we have an identity attraction to pain and suffering since we have lived with it all our lives. We also have a traumatic memory of pain and there, arriving one day without any pain, it must be something quite exceptional and quite disturbing. Because it’s a new world, a new experience, we’re not used to it, so we may also have psychological residue. yes, we would have to learn to readjust to this somewhat more normal life.”

Like most gene therapies, this one is very expensive. Around two million euros for this drug marketed by Vertex Pharmaceuticals, a private laboratory based in the United States. With 30,000 patients in France, even if not all are eligible, this raises questions for the finances of our health system. And what about patients in Africa, the treatment would be inaccessible for them.

So France is looking for an alternative. This is the gene therapy laboratory adjoining the Mondor hospital because France has decided to manufacture its own gene therapy, explains researcher Nicolas Hébert: “We are currently working on it, we have a consortium which has been set up to develop a French gene therapy which can, we hope, be offered in a clinical trial to French patients in a few years, within four to five years. “

“We will try to do it at the manufacturing cost, without making a margin on it, specifies Nicolas Hébert. This is the objective and the difference that there will be with a pharmaceutical industry since it will only be institutional and we hope to be able to offer it at a reduced cost. The French researchers from this consortium made up of Inserm, the Imagine Institute, the AFM Téléthon, the French Blood Establishment and the University of Paris-Est Créteil hope to be able to divide the price of this gene therapy by ten, or approximately 200,000 euros per treatment.