BY LAURA UNGAR
NEW DELHI – Gautam Dongre’s two children in India and Pascazia Mazeze’s son in Tanzania grapple with an inherited blood disorder that transforms blood cells into agents of pain.
With the advent of new gene therapies offering a potential cure for sickle cell disease, Dongre expresses hope, saying, “I’m praying the treatment should come to us.”
However, experts highlight that the one-time treatment remains unattainable in India and Africa, where the disease is most prevalent. Widespread disparities sever much of the world from gene therapy in general.
While access to various medications is restricted in developing nations, the challenge becomes particularly pronounced with these therapies, known as some of the most expensive treatments globally.
Beyond their sky-high prices, these therapies are extremely complex to give patients because they require long hospitalizations, sophisticated medical equipment and specially trained doctors and scientists. So far, the two gene therapies for sickle cell have only been approved in wealthier countries: both of them in the U.S., and one in Britain and Bahrain as well.
“The vast, vast majority of patients live in an area where they have no access to this kind of therapy,” said Dr. Benjamin Watkins, who treats sickle cell in New Orleans and is also involved in pediatric work internationally. “We as medical professionals, and as a society, have to think about that.”
Access to gene therapies was a major focus of this year’s international summit on human genome editing in London. A subsequent editorial in the journal Nature said high prices leave low- and middle-income countries “entirely in the lurch” and could stymie progress across the field.
Some scientists worry that new cures won’t reach their potential, future treatments may never be invented and the prospect of wiping out diseases like sickle cell will remain a distant dream.
SSTRUGGLING FOR BASIC TREATMENT
For gene therapy to even be an option, people in developing nations must stay alive long enough to get it. There, sickle cell disease is more likely to disable or kill than in wealthy regions. Late diagnosis is common and basic care can be hard to come by.
While gene therapy “is a huge leap forward … we can’t forget about those patients,” said Watkins, of Children’s Hospital New Orleans.
Sickle cell disease begins its assault on the body at birth, affecting hemoglobin, the protein in red blood cells that carries oxygen. A genetic mutation causes the cells to become crescent-shaped, which can block blood flow and cause problems such as excruciating pain, organ damage and stroke.
The only other cure is a bone marrow transplant, which must come from a closely matched donor and brings a risk of rejection.
Global estimates of how many people have the disease vary, but some researchers put the number between 6 million and 8 million. It’s more common in malaria-prone regions because carrying the sickle cell trait helps protect against severe malaria. More than 1 million people with sickle cell disease live in India, studies show, and more than 5 million are in sub-Saharan Africa.
Dongre, who lives in Nagpur in central India, has seen the struggles in his own family and among people he’s met as a leader in the National Alliance of Sickle Cell Organizations in India. For many years, awareness of the disease has been lacking, he said, even among some health professionals.
Dongre recalled how his newborn son Girish cried constantly from stomach and leg pain. Doctors couldn’t figure out what was wrong and didn’t diagnose him with sickle cell for 2 1/2 years. When their daughter Sumedha was born, he and his wife had her tested immediately and learned she had the disease too.
Other patients go undiagnosed for a decade or more. Lalit Pargi, who lives in Udaipur in northern India, said he wasn’t diagnosed until he was 16 despite having the tell-tale yellow eyes and skin of jaundice, a common sign of sickle cell. That meant a childhood filled with inexplicable pain.