Scientists have long known what causes sickle-cell disease and its devastating effects: a single mutation in one errant gene. But for decades, there has been only modest progress against an inherited condition that mainly afflicts people of African descent. With advances in gene therapy, that is quickly changing — so much so that scientists have begun to talk of a cure. In a half-dozen clinical trials planned or underway, researchers are testing strategies for correcting the problem at the genetic level. Already a handful of the enrolled patients, who have endured an illness that causes excruciating bouts of pain, strokes and early death, no longer show signs of the disease. Among them is Brandon Williams, 21, who lives with his mother in Chicago. Because of his sickle-cell disease, he had suffered four strokes by age 18. The damage makes it hard for him to speak. His older sister died of the disease.  

The success rate of bone marrow transplants for patients with sickle cell disease or beta thalassemia, from only “half-matched” donors, increased by doubling the radiation delivered to patients’ bodies before the transplants, a John Hopkins University study shows.

The study, “Effect of increased dose of total body irradiation on graft failure associated with HLA-haploidentical transplantation in patients with severe haemoglobinopathies: a prospective clinical trial,” was published in the journal The Lancet Haematology.

Sickle cell disease can potentially be cured with bone marrow transplants, but the strategy has been of limited use due to some constraints, namely the need to match the donor and the recipient for protein markers called human leukocyte antigens (HLA), a set of proteins that can trigger an immune system response. Each person carries a unique set of these proteins, which means that matching potential organ donors and recipients requires thorough testing to check that their HLAs are compatible.

 

The Government of Ghana announced a new public-private partnership to improve the diagnosis and accelerate treatment for people with sickle cell disease (SCD), making Ghana the first African country to commit to offering the global standard of care for their people with SCD.

The Ministry of Health of Ghana, Ghana Health Service, the Sickle Cell Foundation of Ghana and global medicines company Novartis have signed a Memorandum of Understanding to create a holistic approach to help tackle the disease. The partnership aims to improve and extend the lives of people with SCD through a comprehensive approach to screening and diagnosis; treatment and disease management; training and education; and elevating basic and clinical research capabilities.

Specifically, the partners aim to collaborate on field testing and implementation of SCD treatment guidelines, the establishment of centers of excellence across regions and the implementation of newborn screening at these centers.

 

The most common cause of hospital admission among patients with sickle cell disease (SCD) are excruciating pain crises, for which opioid medications are a mainstay of treatment. There have been questions about whether the US opioid epidemic, which has resulted in large increases in opioid-related overdoses and deaths over the past 2 decades, may have affected the death rate among patients with SCD who were treated with opioids in the hospital to relieve pain crises.

According to a study results presented at the 60th American Society of Hematology Annual Meeting & Exposition in San Diego, California, on December 2, 2018, the use of opioid medications for pain control in SCD is relatively safe, and there has been no associated increase in hospital SCD mortality.

Doubling the dose of total-body irradiation (TBI) led to a near-doubling of the engraftment rate for patients with severe hemoglobinopathies undergoing haploidentical transplants, a small clinical trial showed.

All but one of 17 patients had successful engraftment after receiving 400 cGy TBI as part of a nonmyeloablative conditioning regimen. Following successful engraftment, 15 of 16 patients remained transfusion independent, and 14 of 16 discontinued immunosuppression.

Four patients developed grade 2 acute graft-versus-host disease (GVHD) and one developed grade 3, but GVHD had resolved in all cases at the most recent follow-up, Javier Bolaños-Meade, MD, of Johns Hopkins Sidney Kimmel Comprehensive Cancer Center in Baltimore, and co-authors reported online in The Lancet Haematology.

Immersive virtual reality appeared effective as a complementary therapy to manage vasoocclusive pain among patients with sickle cell disease.

“In addition to standard therapies, virtual reality may help reduce the pain experience with sickle cell disease vasoocclusive pain episodes,” Anne Marsh, MD, director of the Pediatric Sickle Cell Clinic and associate hematologist/oncologist at UCSF Benioff Children’s Hospital Oakland, and colleagues wrote. “Further study is required to determine the impact of virtual reality therapy on opioid usage and length of stay in hospital.”

Marsh and colleagues sought to determine whether immersive virtual reality could be a feasible treatment approach for a cohort of 30 patients (median age, 16 years; 21 female) with sickle cell disease hospitalized for vasoocclusive pain episodes.

Results showed pain intensity dropped significantly after a single virtual reality session. Investigators observed improvement in sensory, affective, evaluative and temporal pain domains (P .01 for all).

 

Our walk/run will be virtual this year due to the coronavirus pandemic, but we still need your support!

Join Piedmont Health Services & Sickle Cell Agency for the Virtual 3K Walk/Run to support vital Sickle Cell Services.

Help us raise much-needed funds for vital services such as sickle cell testing, education, case management and genetic counseling. Your support will help us greatly improve the lives and health of individuals and families living with sickle cell disease!

Your may order a single ticket for $25 or organize your own 10-person team. Complete your walk anywhere that is safe and convenient for you-- in your neighborhood, hiking in the woods, in a park or even your back yard--anywhere that you can practice safe social distancing. Complete your walk at your own convenience anytime from July 10 through September 30, 2020.

 

Join us for a fun and exciting motorcycle ride to help raise funds and awareness for sickle cell disease! The ride will consist of a scenic drive through Greensboro and Guilford County and will end at Hagan Stone Park where we will have a cookout!

The event starts at the PHSSCA office, 1102 E. Market St., Greensboro, NC. Registration starts at 9am; kickstands up at 11am. 

Entry fee is $15 per motorcycle with all proceeds to benefit sickle cell services. Free food will be provided for bikers. We will have many cool items to raffle--including a 50/50 raffle, motorcycle helmet and motorcycle jacket! Clubs as well as individuals are encouraged to participate. Join us for an afternoon of fun, food and fellowship--all while benefiting a great cause!

Purchase tickets online at

sicklecellride.eventbrite.com

or call (336) 274-1507

This year’s event has ended. Stay tuned for more information about next year’s event.

 

Join us for an afternoon of fun activities designed to get us thinking about ways to increase clinical trial participation and help us better understand what is most important to you.

On August 3, 2019, the ASH Research Collaborative (ASH RC) with the Center for Information and Study on Clinical Research Participation (CISCRP), the organization’s community engagement partner, will conduct the SCD Community Engagement Workshop in New York, NY.

During the workshop, members of the Sickle Cell Disease (SCD) community will be invited to engage in creative and collaborative activities centered around raising awareness, educating the public, and improving clinical trials for SCD!

Lunch and a gift card will be provided to those who are eligible and attend the meeting as a "thank you" for their time. Free parking will be available.

 

This event has ended.

 

For the first time, doctors in the U.S. have used the powerful gene-editing technique CRISPR to try to treat a patient with a genetic disorder.

"It is just amazing how far things have come," says Victoria Gray, 34, of Forest, Miss. "It is wonderful," she told NPR in an exclusive interview after undergoing the landmark treatment for sickle cell disease.

Gray is the first patient ever to be publicly identified as being involved in a study testing the use of CRISPR for a genetic disease.