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It Takes a Village: NHLBI Boosting Efforts to Educate Patients With Sickle Cell Disease...

It Takes a Village: NHLBI Boosting Efforts to Educate Patients With Sickle Cell Disease About Treatments and Trials

An article from the National Heart Lung and Blood Institute.


When CBS’s 60 Minutes aired the compelling story of a Florida woman whose severe sickle cell disease symptoms were alleviated with a cutting edge gene therapy technique, people listened.

A lot of them.

The treatment happened at the National Institutes of Health, and since the showcasing of its dramatic success, NIH has been responding to scores of inquiries from healthcare providers, caregivers, and patients. And for good reason: researchers said the technique, which treats the root cause of the disease, could one day help many more of the 100,000 Americans—and 20 million people worldwide—living with the painful genetic blood disorder.

But while this uptick in interest has given NIH an opportunity to raise awareness about the innovative therapy—both its promise and its risks—it also has made it possible for patients and providers to learn about the many other research endeavors, clinical trials, and treatments NIH has been developing to improve the lives of those living with sickle cell disease.

“Patients are becoming more aware of the programs, so it’s really phenomenal to see,” said Jim Nichols, a lead nurse consultant with NHLBI’s Sickle Cell Branch under the Office of the Clinical Director who has been at the forefront of sickle cell recruitment at NIH for nearly 20 years.

The CBS segment generated a four-fold increase in referrals to the sickle cell teams at the National Heart, Lung, and Blood Institute (NHLBI)—and a quarter of those referrals came via calls from people interested in the gene therapy trial featured on 60 Minutes.

And that’s where important education efforts are kicking in.

What people are learning, said Wynona Coles, a certified clinical research professional in NHLBI’s Cellular and Molecular Therapeutics Branch, is that the trial is only in its first phase. That means it has strict eligibility criteria and can only accept patients with a certain demographic profile. It also means there are a limited number of slots into which research participants may enroll.

Eleven patients have undergone the gene therapy so far, Coles said, and three more are in preparation for the therapy, making the number of slots for the already small trial even smaller. “And that can be frustrating for patients who saw [Jenelle] Stephenson’s story,” she said.

The good news is that there are other NIH trials that people with sickle cell disease may be eligible for—and researchers believe those hold promise, too. One curative therapy that has been under development for more than a decade “tests ways to make a bone marrow transplant from a matching sibling more accessible and less toxic to patients with sickle cell disease,” said John Tisdale, M.D., chief of NHLBI’s Cellular and Molecular Therapeutic Branch. “We’ve already proven that this therapy is curative and low-risk, yet we’re trying to make it even better.”

But a patient who does not have a matching sibling may not be completely out of luck. Tisdale said a similar kind of transplant is being tested by Courtney Fitzhugh, M.D., an investigator in the Early Sickle Mortality Prevention laboratory, part of NHLBI’s Sickle Cell Branch. Fitzhugh’s trial is looking at the effectiveness of a transplant using the bone marrow of a half-matched family donor, such as a parent or child.

Another clinical trial at NIH dives into gene editing, the next frontier in curative therapies for sickle cell disease.

“With gene editing, we can cut DNA wherever we tell it to cut to reactivate fetal hemoglobin,” Tisdale said. Fetal hemoglobin is present during fetal life and if sickle cell disease develops, a misspelled adult hemoglobin replaces it soon after birth. “If we can switch people with sickle cell disease back to the correctly spelled fetal form of hemoglobin, then we can also cure the disease,” Tisdale noted.

Swee Lay Thein, M.B., D.Sc., chief of NHLBI’s Sickle Cell Branch, and her team will soon begin enrollment for another clinical trial. It will try to determine if a drug currently under study to treat a rare, genetic blood disorder called pyruvate kinase deficiency could also be used to treat sickle cell pain.

The thought of using this drug to treat patients with sickle cell disease came to Thein while she was caring for a patient who had sickle cell symptoms—despite being a carrier of the sickle cell trait—but also happened to have a mutation in the pyruvate kinase gene. The pyruvate kinase genetic mutation reduces pyruvate kinase activity. The drug—given as a pill—aims to increase pyruvate kinase activity, allowing oxygen delivery in the red blood cells to occur more readily and preventing sudden, severe pain crises. If successful, the drug potentially could reach the majority of patients with sickle cell disease who suffer from recurring severe pain and a poor quality of life.

People with sickle cell disease may also participate in a natural history screening study, which is a comprehensive overview of their current health. This allows the sickle cell disease team to pair the patient with any available curative therapy or treatment option the individual may qualify for at NIH. “Even if a person coming to NIH doesn’t fit a trial, we’re still trying to provide them expert consultation,” Nichols said.

Because of the high number of referrals, the sickle cell disease teams at NHLBI are working hard to keep the interest high for current and new clinical trials for sickle cell disease.

“It’s been humbling to see the amazing transformation of the program,” Coles said. “I’m hoping the results remain positive so that the interest will continue to grow and more people will benefit.”

For inquiries about SCD studies at the NIH, please contact the Patient Recruitment Center at (800) 411-1222 or by emailing mailto:.

For questions about SCD in general or NIH’s overall efforts in SCD, contact the NHLBI Center for Health Information by calling (301) 592-8573, emailing mailto:, or sending a letter to PO Box 30105, Bethesda, MD, 20824-0105.

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