March 6, 2017

World-first therapy cures teen’s sickle cell anemia

A French teenager with sickle cell disease, a condition caused by a faulty gene that affects the development of red blood cells, is now in complete remission thanks to an experimental therapy that has altered his DNA and enables his bone marrow to produce healthy hemoglobin.

According to CNN and BBC News reports, the teenager began treatment at Necker Children's Hospital in Paris at the age of 13, and 15 months later, there is no sign of the inherited condition in his blood cells. He is in complete remission and is currently not taking any medication, said a case study published last week in the New England Journal of Medicine.

Study co-author Dr. Philippe Leboulch, a professor of medicine at the University of Paris, said that this breakthrough serves as proof of concept that the therapy works in humans. The patient, he told CNN, “hasn’t had any pain, any complications” since receiving the treatment. “He is free of any transfusions... plays sports and goes to school. So we are quite pleased with the results.”

“All the biological tests we perform lead us to think he is cured,” added senior author Dr. Marina Cavazzana, head of Necker’s biotherapy department. Her team won’t know that for sure until the “longer follow-up,” she said, but they remain hopeful that other sickle-cell patient may be able to undergo this treatment within “the next five years.”

Case study gives ‘hope’ to caregivers around the world

Sickle cell disease is a lifelong condition that primarily affects people of African, Asian, Eastern Mediterranean, Caribbean, and Middle Eastern origins, said BBC News. Most of the cases of this lifelong genetic disorder are in sub-Saharan Africa and regions where malaria is common.

Patients who have SCD typically face a greater risk of contracting serious infections or becoming anemic, in which case their hemoglobin is unable to carry enough oxygen throughout their body, causing them to feel tired and have difficulty breathing. Some of them receive blood transfusions once every three to four weeks to help treat the condition, the British news outlet noted.

According to CNN, more than 275,000 infants worldwide are born with sickle cell disease every year, and an estimated 100,000 people in the US currently have the disease. An estimated one in 365 American children of African ancestry or who identify as black are born with the disease per year, they added. The life expectancy is currently 40 to 60 years.

Sia Evelyn Nyandemo of the Sickle Cell Carers Awareness Network (SCCAN), who has lost a pair of children as a result of sickle cell and has a third daughter currently suffering from the disease, told the BBC Newsday program that the French teen’s case “gives me hope that one day it will happen to our children. At last we are going to get relief. At last there is hope.”

“We live with fear because of the outcome of having sickle cell,” she added. “Every time this child falls ill, we just think that this might be the day. And for the life-threatening episodes we have gone through every time she is sick or in a crisis, it is like this is and that is not a good thing for any parent to go through.”


Image credit: SPL