What You Need to Know About the New Sickle Cell Gene Therapy Treatments

Learn why a 12-year-old boy’s first days of cutting-edge gene therapy treatment have sickle cell disease (SCD) researchers all over the world so eager to explore.

By Ability Central

8 May, 2024

A young, male African American doctor with a beard and a short ponytail checks a young Black boy's joints for mobility issues during a regular sickle cell disease checkup while the boy's mother, a young Black woman with her hair in a braided ponytail, watches from a distance and a female nurse in blue scrubs takes notes.

Sickle cell disease, also called sickle cell anemia or SCD, is a rare genetic blood disease that affects around 100,000 people in the US alone. The pain, exhaustion, and communication difficulties caused by SCD are difficult to manage, let alone cure. 

For decades, researchers have worked hard to find a cure for SCD. At the end of 2023, the Federal Drug Administration (FDA) approved two new SCD gene therapy treatments in a landmark win for people with SCD. In May of 2024, a 12-year-old boy in Washington became the first person in the world to try this cutting-edge gene therapy, and the medical world is watching closely.

So, what exactly is sickle cell disease? And why are the new SCD treatments so important? Let’s dive in.

What is sickle cell disease?

Sickle cell disease (SCD) is an inherited blood disease that impacts hemoglobin, the protein that helps red blood cells (RBCs) carry oxygen. SCD-warped hemoglobin morphs RBCs from their usual round shape into a curved C-shape (like the blade on a farming tool called a "sickle”).

These warped red blood cells stick to each other in blood vessels, causing excruciatingly painful blockages that can lead to serious health complications or even death.

SCD can cause:

  • Stroke
  • Blood clots
  • Anemia (not enough RBCs in the blood)
  • Avascular necrosis (bone tissue dying from lack of oxygen)
  • Ulcers
  • Pulmonary hypertension (high blood pressure in the lungs)
  • Vision loss
  • Organ damage, particularly to the liver, spleen, and kidneys 
  • Acute chest syndrome (life-threatening lung blockages)
  • Inflammation and painful swelling, particularly in the hands and feet 

How does sickle cell affect communication?

SCD can be extremely isolating. A major SCD symptom called a “pain crisis” or vaso-occlusive crisis (VOC) is characterized by pain so intense it requires a hospital stay and strong narcotic pain medications. People experiencing pain crises are sometimes overwhelmed to the point where they can’t talk.

Sickle cell affects:

  • Mobility and dexterity. Swelling in the hands and feet, bone damage, and trigger avoidance may lead to sedentary lifestyles.
  • Vision loss when blood clots affect the retina.
  • Anemia. Lack of healthy RBCs causes exhaustion, irritability, and shortness of breath.
  • Organ function. When damaged, kidneys, spleens, and livers can cause other health issues like jaundice.
  • Social life. SCD symptoms and pain crises can be triggered by simple things like weather changes, exercise, stress, or high altitude, making it hard to attend work, school, or social outings with friends. 

Many people with SCD struggle to feel like they’re part of the world around them, especially when forced to sit out of activities their loved ones enjoy.  

What are the new sickle cell gene therapy treatments? 

Historically, sickle cell treatment focuses on pain management and trigger avoidance. Some medications alleviated symptoms or reduced the frequency of pain crises, but nothing “cured” SCD. 

New gene therapy treatments offer a possible path to a cure. Both treatments take stem cells from bone marrow and genetically modify them in specialized labs. 

One treatment adds a “good hemoglobin” gene to patients’ DNA so that RBCs can form normally. The other uses the Nobel Prize-winning gene editing tool CRISPR to “snip” mutations out of DNA and coerce stem cells to create healthy RBCs. 

Both treatments teach the body how to manufacture healthy red blood cells, essentially curing SCD.

Why are researchers so excited about the new sickle cell treatments? 

12-year-old boy named Kendric Cromer is the first person in the world to start the groundbreaking “good hemoglobin” SCD treatment outside of clinical trials. (The companies behind the CRISPR therapy have not yet said whether they’ve started treatments.)

Millions of people in countries with limited access to healthcare live with the disease, which disproportionately affects Black people and people of African descent. Right now, the $3.1 million gene therapy cost is prohibitive for people without health insurance and federal coverage like Medicaid.

But results from Kendric’s treatment will help better inform the process and, hopefully, mark another step forward in making gene therapy accessible to anyone who has SCD, regardless of income or location.

How could new sickle cell gene therapy treatments help people with communication disabilities?

Any treatments that expand the capabilities of gene therapy could point to an exciting future for people with communication disabilities. 

Advances in SCD therapy could lead to new treatments for conditions like:

Where can I get more information about sickle cell?

We’re a long way off from gene therapy for all inherited diseases, but you can understand why the new SCD treatments are so exciting.

Sickle cell gene therapy isn’t just an exciting first step for Kendric Cromer’s family. It could be the start of a new generation of medical discoveries.

To learn more about sickle cell disease, see: 

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