Is a Cure for Sickle Cell Anemia on the Horizon with Gene Therapy?

Severe pain, swelling, infections, anemia and vision problems. These are just a few of the many signs and symptoms of sickle cell anemia, a condition that affects hundreds of thousands of Americans. Those with sickle cell anemia don’t have enough healthy red blood cells to transport oxygen through the body.

There’s no cure for this disorder, and for decades, little progress has been made on developing treatment options. But, now, thanks to advancements in gene therapy, a new sickle cell treatment may be on the horizon that could actually cure the disorder. A cure would be life-changing for those with this disorder, who often battle with pain and face a shortened lifespan.

Sickle Cell Trial: Using Gene Therapy to Treat Sickle Cell Anemia

Treatment for sickle cell anemia has been primarily focused on relieving symptoms and preventing pain episodes. But a team of researchers from the Broad Institute and Harvard have found a gene-editing technique that has successfully treated sickle cell anemia in rodents.

The promising results of the research may someday lead to a cure for this inherited blood disorder.

Researchers used a gene-editing system, often referred to as CRISPR 2.0, to change a single DNA letter in red blood cells. This single change has profound effects, effectively transforming the disease-causing genes into harmless versions that create healthy copies of themselves.

Simply put, gene editing can correct the mutation that causes the disorder. Best of all, a treatment such as this would address the root cause of the problem and effectively cure the disorder.

Gene Therapy Isn’t New, But This Technique Is

Sickle cell anemia reduces the number of healthy red blood cells, which are responsible for transporting oxygen through the body. As a result, red blood cells are forced to take on a crescent or sickle shape.

In addition to pain, the condition can lead to organ failure and premature death.

The only known cure for the condition is a bone marrow transplant, but finding matched donors is challenging. Even when a match is found, there’s a risk of infection and adverse effects, including fatal immune responses.

Several experimental treatments are in the works. These therapies either introduce new DNA or use gene-editing techniques to edit the patient’s DNA. However, adverse side effects are a concern with these treatments.

The technique used by researchers at Harvard and the Broad Institute is different from the methods commonly used for gene editing. Rather than slicing into double-stranded DNA, the technique uses a molecular tool to target only specific gene sequences. These DNA pairs are then converted to different letters.

For patients with sickle cell anemia, A-T pairs are converted to G-C pairs. The sickle cell mutation occurs when an A gene converts itself into a T gene. Gene editing cannot reverse this process, but it can force the T gene into a C gene. As a result, healthy blood cells are produced, and the disease is effectively cured.

The Study and Its Results

To put this theory to the test, researchers made changes to blood cells taken from humans with sickle cell anemia. As a result, as much as 80% of the mutated genes were converted into benign and naturally occurring hemoglobin proteins.

The researchers then removed the bone marrow from mice and transplanted the blood. After 16 weeks, these edited blood cells were still present.

Two more experiments were performed to confirm the results. In these two experiments, blood was transferred from mice to mice instead of human to mice. The results were similar in both experiments.

Clinical studies and trials are underway to better understand gene therapy, its efficacy and its effects on patients with sickle cell anemia.

Sickle Cell Anemia Trials

What You Need to Know

For those suffering from sickle cell anemia, gene therapy trials are underway that are putting the above-mentioned research and other treatment options to the test.

One sickle cell disease study is evaluating the efficacy and safety of experimental medication for improving anemia and reducing sickle cell crises.

Who is Eligible for the Trial?

  • Have you been diagnosed with sickle cell disease?
  • Have you experienced a sickle cell pain crisis (also known as a vaso-occlusive crisis [VOC] at least twice within the last year?

A VOC is a common but painful complication of sickle cell disease, and it’s the primary reason people with this condition seek emergency medical care. A sickle cell pain crisis occurs when sickle-cell shaped cells become lodged in blood vessels. Pain is most common in the arms, chest, legs and spine, but it can happen anywhere.

If you answered “yes” to these two questions, then you may be eligible for the trial. However, you will need to answer a few more questions to determine whether there are any trial sites near your location.

If you are currently ineligible for a trial because of your location, you can sign up for alerts to be notified if a trial opens up in your area.

Why Participate in a Clinical Trial?

Clinical trials play a crucial role in medical advancements. They help scientists find new ways to treat, prevent and diagnose disease. Even if you don’t directly benefit from the trial, your participation will benefit others.

Participating in a clinical trial also gives you the chance to receive cutting-edge treatment while receiving additional care from the trial’s staff.

What Will Be Provided?

Qualifying participants will receive all trial-related medical care, tests, trial medication and procedures.

Will You Be Compensated?

For this trial, participants will be compensated for their time and travel expenses.

Are There Risks and Safeguards?

Yes, there are risks when participating in clinical trials, but there are also safeguards in place to protect the rights and safety of participants.

There are risks with any medical procedure or treatment, but some trial participants face complications that require medical attention. These risks will be outlined in the consent document, which all participants must sign before taking part in the trial.

Clinical trials also have safeguards to protect your safety and rights. These include:

  • Protocol Review: Proposed studies must be presented to the International Review Board (IRB), which determines whether the study is safe and ethical enough to move forward. The IRB consists of medical specialists, nurses, medical ethicists, social workers and statisticians
  • Informed Consent: Participating in a trial is voluntary, and you will be required to sign a consent document. A researcher will talk to you about the details of the study, answer your questions and explain the protocol. You can discuss the protocol with trusted friends and family, and you will not be rushed into making a decision. Even after signing the document, you are free to change your mind and withdraw from the study at any time.
  • Bill of Rights: Participants in clinical research are protected by a Bill of Rights that covers their privacy, access to their medical records and confidentiality.
  • Patient Representative: In clinical research, the Patient Representative is the link between the hospital and the participant. It’s the Representative’s job to make sure that the participants are informed of their rights and their responsibilities.

The sickle cell disease study, like any other study, does have risks. However, these will be explained to you in detail so that you can carefully weigh the pros and cons and make an informed decision.