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How Have the Treatments for Sickle Cell Disease Advanced So Far?

Treatments for Sickle Cell Disease

Published on Aug 03, 2018

The tropical region of the United States, Central America, the Middle East, the Africa region, and the Indian subcontinent has always been home to a disorder – anemia. Its inherited lifelong disease form – the Sickle Cell Disease (SCD), though rarer than anemia, has been having a more serious impact on a portion of the population in these regions. Moreover, migratory and cultural intermixes among various communities across regions have begun to expose even the northern areas to the Sickle cell anemia. In SCD a patient not only suffers from the lack of red blood cells, the cells contort into a sickle shape creating a major shortage of healthy red blood cells or painfully blocked blood flow, and weakening the immune system considerably.

The National Heart, Lung and Blood Institute (NHLBI), based at Maryland, United States, reports about 70,000 to 100,000 prevalent SCD cases in the country, primarily among the African Americans. According to the institute, the SCD occurs in about 1 in every 500 African American births. Additionally, local media states that India alone is home to almost 150,000 patients with this disease and about 88% of SCD cases are found in Asia, mostly among the age group of 0 to 20 years.

Unfortunately, since SCD is a genetic disorder, a very few non-specific treatments exist today. Conventional treatments, such as blood transfusion, antibiotics, vaccines, painkillers, bone marrow transplant (for ages up to 16 years) etc. have had limited impact as preventive measures against other diseases that may trigger the SCD symptoms.

In fact, in the early 1990s, hydroxyurea (a drug commonly used in chemotherapy) was found to be effective to prevent acute complications of SCD. The drug is said to have shown benefits like a decrease in pneumonia cases and pain crises, and reduced the need for blood transfusions. Moreover, it is known to reduce the rate of acute complications in very young children with HbSS, including pain and dactylitis, and some evidence for hospitalization, transfusion and acute chest syndrome.

However, such conventional treatments also exhibited numerous disadvantages such as infections, allergies, immune hemolytic reaction and more.

Incidentally, while hydroxyurea was found not quite effective and had many side effects, it was used for almost 20 years until it was found by California-based Emmaus Medical that L-glutamine (2, 5-diamino-5-oxopentanoic acid) can be used as a potential drug for SCD as well. The biopharmaceutical firm came up with a drug named Endari, which is L-glutamine white oral powder that can be prescribed for patients above 5 years of age.

L-glutamine is a conditionally essential amino acid, which is used as an adjunctive glutamine treatment. It is reported to improve nitrogen retention, decreases clinical infection and has many other benefits.  It is also reportedly known to lessen the incidence and severity of mucositis after bone marrow transplant. To add to it, it is also stated to be an effective way to boost the immune system and improve the ability to fight diseases while protecting against mucosal break down in the gut. Industry reports observed that the patients who were treated with L-glutamine had to undergo fewer blood transfusion events. The reports state that the suggested dosage is 0.6g/kg/day and should not exceed 28-30g/day.

The principal inventor of the patented L-glutamine therapy and co-founder Emmaus Life Sciences – the parent organization of Emmaus Medical, Dr. Yutaka Niihara stated in his media interviews, “Endari, like any other drug has potential side effects. The FDA reported those could include constipation, nausea, headache, abdominal pain, cough, pain in extremities, back and chest pain but it does not have any toxicity.” He adds, “We knew that it was not going to cure the disease, but improve the condition for patients. We’re able to decrease the symptoms and make the circulation better.”

On the other hand, gene therapy or gene engineering methods are rapidly evolving treatment processes against SCD, but are currently fraught with high risk as well as cost.

Undoubtedly, it’s a long but promising way forward.