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Sep 19 2013

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On the Cusp of a Cure – Sickle Cell Disease

sickle cell disease

Children who have sickle cell disease, like Shannon, 12, are often admitted to CHOP many times a year for fevers, pain and illness.

After 30 years of research, one surgeon is close to a breakthrough for sickle cell disease.

It’s a good rule of thumb that when it comes to sick kids, the sooner a problem is identified and treated, the better the prognosis. Many of CHOP’s patients are toddlers, infants or even newborns. But one group of surgeons and researchers at CHOP works on a whole different timeline: They treat babies before they are even born.

In 1981, surgeon Alan Flake, MD, was part of the very first open operation on a fetus still in the womb. Today, Flake is not only one of the world’s top fetal surgeons, but he is also director of the Center for Fetal Research at CHOP. There he has spent most of his 30 years in the field working on what could be one of the biggest medical breakthroughs in a generation: a cure for sickle cell disease.

Sickle cell disease affects millions of people worldwide and is the most common inherited disorder in African Americans, of whom 1 in 375 is born with the disease. Instead of the normal soft, red blood cells that most of us have, people with the disease have stiff, sickle-shaped cells that clump and block blood vessels, leading to a host of problems from debilitating pain crises and fatigue to potentially fatal heart attacks and strokes. Sickle cell patients are commonly hospitalized three or four times a year — every fever means straight to the Emergency Department. Heartbreakingly, most people with the disease will succumb to it before their 50th birthday.

Although bone marrow transplants can cure sickle cell disease, the procedure is so risky that it’s usually considered worse than the disease. What Flake is developing could be a true cure — a way for children to be treated before birth and grow up completely symptom-free.

sickle cell disease

Alan Flake, MD (left), with Kim Smith-Whitley, MD (right), director of CHOP’s Comprehensive Sickle Cell Center

Because red blood cells are made in bone marrow, the procedure involves transplanting stem cells from the mother’s bone marrow to the child. The first transplant is done during a special window in early pregnancy when the fetus’ immune system is not yet fully developed; at this stage, the fetus’ body tolerates its mother’s cells as if they are its own, avoiding the toxic chemotherapy typically required by bone marrow transplantation. After the baby is born, a second transplant cements the process. He or she will be able to produce normal red blood cells, without any symptoms of sickle cell disease.

The procedure is so advanced that Flake is even helping design the instruments needed to do it, including a narrow needle to inject cells into the fetus in a minimally invasive way. He plans to enter clinical trials for the procedure within three years and sees the potential for it to cure a broad range of related disorders, including thalassemias.

Since 2007, the Albert M. Greenfield Foundation has been a major supporter of Flake’s work, but the doctor’s team still needs significant funding to make this pioneering research a clinical reality. To that end, CHOP Foundation created Hope on the Horizon, a volunteer-driven campaign working to raise those critical funds through private philanthropy. Together we can make a big difference for children with this devastating disease.

From the latest issue of Children’s View.

Permanent link to this article: http://www.research.chop.edu/blog/on-the-cusp-of-a-cure-sickle-cell-disease/

3 comments

  1. Lashay

    I have had several cousins that have died from this disease. All of whom were in there 20′s and early 30′s. I am heart broken over this disease and hope that whatever cure is found is done for all ages and fast. Thanks to all who are working diligently to find a cure.

  2. Nita

    My daughter has Sickle Cell Disease. You just don’t know how happy I am to hear this. She is the only child. I’m currently scared to have another child due to the possibility of having another child with sickle cell. I really hope this is the breakthrough that us parents are looking for. If I were able to give my daughter my stems cells now, I would. I just want my daughter to have a healthy, normal life, without any worries.

  3. Marshall@Bone Marrow Transplant

    This is relatively a rare kind of condition, thank you for educating us. I have no idea that this disease has significantly impact the African American community and has so many life threatening consequences to children as it is a genetic condition that can be passed to them. I just can’t imagine the pain that a kid would go through and the families ongoing stress while battling this disorder, it would be nice if there are also support group with this kind of disease, to give attention and care to patients. Glad that there are group of surgeons and researchers who are focusing on the early detection and treatment to increase the life expectancy of those who have sickle cell disease.

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