Gautam Dongre’s offspring in India and Pascazia Mazeze’s offspring in Tanzania both have a genetic condition that causes their blood cells to become sources of discomfort.

Dongre hopes that the new gene therapies will provide a cure for his sickle cell disease and is eagerly awaiting the treatment.

However, according to specialists, the single-dose therapy is not accessible in India and Africa, where the disease is prevalent. Significant disparities prevent a large part of the global population from accessing gene therapy in general.

In developing nations, there is limited availability of various medications. However, the challenge is particularly severe when it comes to these treatments, which are among the costliest in the world.

In addition to their exorbitant costs, administering these treatments to patients is highly intricate as it involves lengthy hospital stays, advanced medical technology, and highly skilled medical professionals. Currently, the two gene therapies for sickle cell disease have only been authorized in more prosperous nations, specifically in the United States, and one each in Britain and Bahrain.

Dr. Benjamin Watkins, who specializes in treating sickle cell in New Orleans and has also worked with pediatric patients globally, expressed that the majority of patients do not have access to this type of therapy in their area. He believes that as medical professionals and as a society, it is important to consider this issue.

The international summit on human genome editing held in London this year placed significant emphasis on the availability of gene therapies. An editorial in the journal Nature that followed expressed concerns about the high costs, stating that they could hinder progress in the field and leave low- and middle-income countries at a disadvantage.

There is concern among certain scientists that potential new cures may not be fully utilized, leading to a lack of invention of future treatments and making it unlikely that diseases such as sickle cell will be eradicated.

I am struggling to receive basic medical care.

In order for gene therapy to be a possibility, individuals in underdeveloped countries must survive long enough to receive it. In these areas, sickle cell disease is more likely to cause disability or death compared to more affluent regions. A delayed diagnosis is typical and access to basic healthcare may be limited.

According to Watkins from Children’s Hospital New Orleans, while gene therapy is a significant advancement, we must not overlook the needs of patients.

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.

Another potential treatment is a bone marrow transplant, but this requires a donor who is a close match and carries the risk of being rejected by the body.

The worldwide prevalence of the disease is uncertain, with some experts estimating it affects anywhere from 6 million to 8 million individuals. This condition is more prevalent in areas where malaria is common, as those with the sickle cell trait have a reduced risk of severe malaria. Research indicates that India is home to over 1 million individuals with sickle cell disease, while over 5 million reside in sub-Saharan Africa.

Dongre, a resident of Nagpur in central India, has witnessed the challenges faced by his own family and others he has encountered as a leader in the National Alliance of Sickle Cell Organizations in India. He states that for a long time, there has been a lack of awareness about the disease, even among certain medical 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.

Some patients remain undiagnosed for 10 years or longer. Lalit Pargi, who resides in Udaipur, India, was not diagnosed until age 16 despite exhibiting the classic symptoms of jaundice, including yellowing of the eyes and skin, which is a common indication of sickle cell disease. As a result, he experienced unexplainable pain throughout his childhood.

‘GOD AND GOOGLE’

Possible rewording: There are treatments that can lessen the occurrence of painful episodes called “crises.” Dongre’s 19 and 13-year-old children are currently taking a medication known as hydroxyurea, which is a chemotherapy drug that has been used for decades to prevent the formation of sickle-shaped red blood cells and manage the disease. Both of them have been admitted to the hospital for pain episodes, particularly when they were younger.

According to Dongre, individuals living in rural regions are passing away prematurely due to inadequate access to proper medical care.

In July, the Indian Prime Minister Narendra Modi initiated a campaign to eliminate sickle cell disease through a comprehensive approach including raising awareness, providing education, conducting screenings, and promoting early detection and treatment. Dongre praised this effort but acknowledged that the country may encounter significant challenges in achieving its objectives.

In Tanzania, East Africa, the health ministry has collaborated with pharmaceutical company Novartis, the producer of sickle cell medication, to enhance availability of diagnosis and treatment. The circumstances are similar in this region.

After her son, Ian Harely, was diagnosed, Mazeze frantically searched for information.

“I searched and searched on Google, but I couldn’t sleep,” stated Mazeze, who is the executive director of the Tanzania Sickle Cell Warriors Organization. “Then, I turned to prayer. It was a combination of God and Google.”

Her 10-year-old child is currently prescribed hydroxyurea and folic acid to manage anemia. While these medications have been beneficial, they have not completely prevented the occurrence of painful episodes, such as the one that required a two-week hospitalization earlier this year.

However, Mazeze considers herself fortunate that she is able to afford any form of treatment.

According to her, there are individuals in Tanzania who are unable to afford folic acid. The cost of folic acid for a month is 1,000 Tanzanian shillings, which is less than one dollar. However, the out-of-pocket expenses for hydroxyurea can exceed this amount by more than 35 times.

‘SIGNIFICANT CHALLENGES’

Experts believe that the high costs associated with gene therapies are a significant barrier, given the harsh realities of the situation. In the United States, the price for two sickle cell therapies is $3.1 million and $2.2 million, but this may differ in other countries.

Administering the treatments can also be a significant challenge.

Patients are required to visit a medical facility in order to have stem cells extracted from their blood using specialized equipment. One particular treatment, developed by Vertex Pharmaceuticals and CRISPR Therapeutics, involves expediently sending the cells to a laboratory to maintain their freshness and utilizing a gene-editing tool known as CRISPR to disable a specific gene. The cells are then shipped back in liquid nitrogen to ensure they remain frozen until they are needed.

The alternative treatment, developed by Bluebird Bio, does not utilize CRISPR technology but follows a similar process for patients. In both scenarios, patients must first undergo chemotherapy before receiving their modified cells intravenously and then stay in the hospital for several weeks. The procedure can extend over a period of months.

Dr. David Altshuler, the chief scientific officer at Vertex, stated that in numerous regions of the world, there is not enough infrastructure to facilitate this possibility. He acknowledged that there is a high demand for this, but also recognized the obstacles that need to be overcome.

Many medical facilities not only lack specialized equipment, but the overall healthcare systems are also relatively underdeveloped. For instance, according to data from the World Health Organization, India and Tanzania have less than 25% of the hospital beds per capita compared to the United States.

One potential remedy, suggested by scientists, is to create more convenient methods for administering the new treatments. According to Altshuler, Vertex is currently exploring options for achieving the same results without the need for chemotherapy, which presents significant dangers such as infertility. The team is currently focused on developing a pill that would not involve gene editing, but would still aim to promote the production of fetal hemoglobin, as the adult form is faulty in individuals with sickle cell disease.

Additional researchers are currently exploring more straightforward potential treatments, such as Dr. Stuart Orkin, who contributed to the development of the Vertex therapy.

According to Orkin, he is uncertain if newer treatments such as medication will be within financial reach.

“A pill developer will likely seek compensation for their work,” stated a pediatrics professor from Harvard Medical School. The professor is funded by the Howard Hughes Medical Institute, which also backs The Associated Press’ Health and Science Department. According to experts, governments will likely play a vital role in ensuring that treatments reach patients.

Dongre expressed his desire for gene therapy to be available in India for sickle cell patients. If it becomes available, he would like his children to be among the initial recipients. Mazeze stated that she may wait and observe the results of other patients before considering it for her son as well.

They both concurred that all patients, regardless of their country’s wealth, should be given the choice.

According to Dongre, we are all members of the same planet.

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The AP Health and Science Department is backed by the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all material.