CLEVELAND, Ohio (Ivanhoe Newswire) – Sickle cell disease is a genetic blood disorder that impacts more than 100,000 Americans. One in every 365 African American babies born today, will be born with this lifelong disease. One in 13 will carry the sickle cell trait. It can cause extreme, debilitating pain throughout a person’s body. Until now, there have been few approved therapies. But researchers are on the edge of a breakthrough.
Danielle Lee’s adventurous spirt shines through, but behind the smiles of this aspiring actress — unimaginable pain.
“I went from like screaming, crying, ‘please don’t let me die’ to ‘I just wanted the pain to be over.’ It is very sharp pain most of the time, to the point where holding my cell phone can hurt,” Danielle painfully recalls.
Danielle was diagnosed before birth with sickle cell disease — abnormal hemoglobin makes red blood cells rigid and shaped like sickles. These cells die early, leading to a chronic shortage of healthy red blood cells which are essential for carrying oxygen throughout the body.
Cleveland Clinic pediatric oncologist, Rabi Hanna, MD says, “The blood, basically, doesn’t go to where it should be. So, the oxygen doesn’t go to potential parts of the body.”
It causes severe pain in the bones, it can impact a patient’s heart, lungs, eyes and even cause strokes. Dr. Hanna says medications can relieve some of the symptoms. Chemo also helps. Bone marrow transplants work when they’re not rejected. But now, a one-time gene editing cell therapy modifies a patient’s own blood-forming stem cells to correct the mutation responsible for sickle cell disease.
“We attach the patient to apheresis machine that able to separate the stem cell from the red blood cells from the plasma,” Dr. Hanna explains.
Once the stem cells are collected and sent to the lab for gene editing, patients undergo chemo to destroy their remaining bone marrow, then the edited stem cells are infused back into their body.
Dr. Hanna further explains, “The cells, they can go to their bone marrow and they start to build their house that will produce a new white blood cells, a new red blood cells.”
Results show new white blood cells in patients at four weeks with no severe adverse effects. The patients have also been free of sickle cell disease’s pain attacks for an entire year. Danielle was one of the first in the CRISPR gene editing clinical trial.
“I have so much more energy, thank God,” Danielle says with relief.
The average life of a sickle cell patient is in the mid-forties. Doctors hope the CRISPR gene editing technology will change that and allow patients to live a long, pain-free life. The Ruby clinical trial aims to enroll 40 more patients ages 18 to 50 with severe sickle cell disease. You can find out more at clinicaltrials.gov.
Contributors to this news report include: Marsha Lewis, Producer; Kirk Manson, Videographer; Roque Correa, Editor.
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Sources:
https://classic.clinicaltrials.gov/ct2/show/NCT04853576
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: ON THE EDGE OF A BREAKTHROUGH: POSSIBLE SICKLE CELL SOLUTION
REPORT: MB #5292
BACKGROUND: Sickle cell disease (SCD) is a hereditary blood disorder characterized by abnormal, crescent-shaped red blood cells. This condition happens due to a mutation in the gene responsible for producing hemoglobin, a protein crucial for carrying oxygen throughout the body. In individuals with SCD, these malformed cells have a reduced ability to flow smoothly through blood vessels, leading to episodes of pain, organ damage, and a range of complications. SCD is more prevalent in populations with African, Mediterranean, Middle Eastern, and South Asian heritage. While there is currently no cure for SCD, advancements in medical treatment and ongoing research are providing hope for improved management and quality of life for those affected by this condition.
(Sources: https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249957/)
DIAGNOSING: Sickle cell disease (SCD) is typically diagnosed through a series of blood tests that evaluate the presence of abnormal hemoglobin. A common initial screening is the hemoglobin electrophoresis, which identifies the different types of hemoglobin in the blood. Additionally, a complete blood count (CBC) can reveal the presence of sickle-shaped red blood cells and assess the overall health of the blood. In some cases, genetic testing may be done to confirm the specific type of SCD and provide insights into its severity. Additionally, prenatal testing and newborn screening programs are crucial for early detection and intervention in infants born to parents with a history of SCD. Early diagnosis is imperative for the effective management and treatment of this condition.
(Sources: https://www.testing.com/tests/sickle-cell-tests/
https://www.hematology.org/education/patients/anemia/sickle-cell-disease)
NEW TECHNOLOGY: Advancements in technology have greatly enhanced the management of sickle cell disease (SCD). Telemedicine allows for remote consultations and monitoring, providing convenient access to healthcare professionals for individuals with SCD. Mobile applications and wearable devices can help track symptoms, medication schedules, and vital signs, enabling patients to actively participate in their own care. Also, genetic testing and counseling services have become more upscale, allowing for a deeper understanding of an individual’s specific SCD variant and potential treatment options. Cutting-edge therapies such as stem cell transplants offer promising longevity in potentially curative approaches. Additionally, electronic health records (EHRs) help healthcare providers track whether certain therapeutic interventions or immunizations are being kept up with/offered to individuals with SCD.
(Sources: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701688/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915456/
https://www.sciencedirect.com/science/article/pii/S0006497119323328
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Alicia Reale Cooney Halle Bishop Shannon Kelley
REALECA@ccf.org bishoph@ccf.org NEALONS@ccf.org
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
