Gautam Dongri and his two sons live in India, while Baskazia Mazizi and her son are in Tanzania, struggling with a hereditary blood disorder that turns blood cells into tools of pain.
Now that new gene therapies promise a cure for their severe thalassemia, Dongri says, “I pray that the treatment comes to us.”
Limited Access to Gene Therapies in Developing Countries
Experts say that the one-time treatment is not available in India and Africa – regions where the disease is most prevalent. Many barriers cut off the world from gene therapy in general.
While access to all kinds of medicine is limited in developing countries, the problem is particularly acute with these therapies, which are among the most expensive treatments in the world.
In addition to their exorbitant prices, these therapies are extremely complex to administer to patients as they require long hospital stays, advanced medical facilities, and specially trained doctors and scientists. So far, only two gene therapies for thalassemia have been approved in the wealthiest countries: both in the United States, and one in the UK and Bahrain as well.
“The vast majority of patients live in areas where they do not have access to this type of treatment,” said Dr. Benjamin Watkins, who treats thalassemia in New Orleans and also engages in international pediatric medical work. “We need to think about that as professionals in the medical field and as a community.”
The Major Challenges in Accessing Gene Therapies
Access to gene therapies was a key focus at this year’s summit on human genome editing in London. In a subsequent analysis published in Nature, researchers noted that high prices leave low- and middle-income countries “suffering immensely” and can hinder progress in the field.
Some scientists are concerned that new therapies may not reach their full potential, that future treatments may not be invented, and the prospect of eradicating diseases like thalassemia will remain a distant dream.
The Difficulties in Obtaining Basic Treatments
For gene therapy to be an option, people in developing countries must live long enough to access it. There, thalassemia puts individuals at a greater risk of disability or death compared to wealthier regions. Late diagnoses are common, and accessing basic care is difficult.
While gene therapy is a “massive leap forward… we cannot forget about those patients,” said Watkins from Children’s Hospital New Orleans.
Thalassemia begins affecting the body at birth, impacting hemoglobin, the protein in red blood cells that carries oxygen. A genetic mutation causes cells to become crescent-shaped, which can obstruct blood flow and lead to issues like severe pain, organ damage, and stroke.
The only other option is a bone marrow transplant, which must come from a perfectly matched donor and carries the risk of rejection.
Global estimates for the number of people with the disease vary, but some researchers place the number between 6 and 8 million. It is more common in regions affected by malaria because carrying the thalassemia trait helps protect individuals from severe malaria. More than a million people with thalassemia live in India, and studies suggest over 5 million individuals in sub-Saharan Africa suffer from the disease.
Dongri, who lives in Nagpur in central India, has witnessed the struggles within his family and among those he has met as a leader in the National Alliance of Thalassemia Organizations in India. He noted that awareness of the disease has been lacking for many years, even among some health professionals.
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Dongri’s infant son, Girish, cried constantly due to stomach and leg pains. Doctors could not determine what was wrong and did not diagnose him with thalassemia for two and a half years. When their daughter, Sumida, was born, they tested her immediately and learned that she also suffered from the disease.
Some patients go undiagnosed for a decade or more. Lalit Bhargava, who lives in Udaipur in northern India, said he was not diagnosed until he was 16 years old despite having yellow eyes and yellow skin indicating jaundice, a common sign of thalassemia. This meant a childhood filled with mysterious pain.
Struggling with Basic Treatments
Available treatments can reduce pain episodes known as “crises.” Dongri’s two sons, now 19 and 13 years old, take a drug called hydroxyurea, an old chemotherapy drug that helps prevent the formation of sickle-shaped red blood cells and controls the disease. Both were hospitalized due to pain crises, especially when they were younger.
Other patients in rural areas die at a very young age without receiving proper treatments, according to Dongri.
In July, Indian Prime Minister Narendra Modi launched the “Mission to Eliminate Thalassemia,” which combines awareness, education, screening, early detection, and treatment. Dongri welcomed the effort but said the country faces significant obstacles to achieving its goals.
The situation is very similar in Tanzania in East Africa, where the health ministry has partnered with the pharmaceutical company Novartis, which manufactures thalassemia medications, to improve access to diagnosis and treatment.
Mzizi raced to gather information after her son Ian Harley was diagnosed.
Mzizi, the executive director of the Thalassemia Warriors Organization in Tanzania, said, “I searched and searched and couldn’t sleep.” “After that, I prayed. It was about God and Google.”
Her son is now ten years old and takes hydroxyurea and folic acid to treat anemia. They helped, but they did not eliminate pain crises like the one that hospitalized him for two weeks earlier this year.
However, Mzizi considers herself lucky to be able to afford treatment at all.
She said, “We have people in Tanzania who can’t even afford folic acid.” “Folic acid for a month is 1,000 Tanzanian shillings – less than one dollar,” while the personal costs of hydroxyurea can be more than 35 times that.
Significant Challenges in Accessing Gene Therapies
These stark realities make the cost of gene therapies an insurmountable barrier, according to experts. The costs of the two gene therapies for thalassemia in the United States are $3.1 million and $2.2 million, although the cost of gene therapies can vary from country to country.
The process of administering the therapies is a significant hurdle as well.
Patients have to go to the hospital, where stem cells are extracted from their blood in a process that requires specialized equipment. One of the therapies, produced by Vertex Pharmaceuticals and Crispr Therapeutics, involves sending the cells to a lab as quickly as possible to keep them fresh and using a gene-editing tool called CRISPR to remove a gene. The cells must be transported in liquid nitrogen to remain frozen until they are used.
The other therapy, produced by Bluebird Bio, does not use CRISPR technology but involves the same process for patients. In both cases, patients must undergo chemotherapy before they receive their modified cells intravenously, spending weeks in the hospital. The entire process can take several months.
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Dr. David Altshuler, the Chief Scientific Officer at Vertex: “There is no infrastructure to make it possible in many parts of the world.” “There is a huge unmet need, but there are also significant challenges.”
Many medical centers lack things like specialized equipment, but the healthcare systems themselves are relatively lean. For example, data from the World Health Organization indicate that India and Tanzania have less than a quarter of a hospital bed per person compared to the United States.
Scientists say one possible solution – although not an immediate one – is to develop easier versions of new treatments. Altshuler said Vertex is trying to find ways to provide the same benefits without chemotherapy, which comes with serious risks such as infertility. His team is working on making pills that do not release genes but have the same goal: helping the body produce an embryonic form of hemoglobin where the adult form is defective in people with thalassemia.
Other scientists are also working on simple treatments, including Dr. Stuart Orkin, one of the scientists who worked on developing Vertex’s treatment.
Orkin said he is unsure whether new next-generation treatments like pills will be affordable.
“There will be someone wanting compensation for developing those pills,” he said, although charities may help bring them to the developing world, according to the professor of pediatrics at Harvard Medical School, who receives funding from the Howard Hughes Medical Institute, which also supports the health and science division at the associated press agency. Experts say governments are likely to be a key part in providing treatments to patients as well.
Dongri said he hopes the gene therapy for thalassemia eventually reaches India. If that happens, he would like his children to be among those who receive it. Mazizi said she might wait to see how other patients recover, but she would consider it for her son as well.
Both agreed that patients in all countries – rich or poor – should have the option.
Dongri said, “We are all part of one planet.”
Source: https://www.aol.com/promising-gene-therapies-sickle-cell-155238753.html
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