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Teams at UWSOP and Fred Hutch look at emerging sickle cell disease therapies

Phlebotomist preparing to draw patient’s blood at the UW Neighborhood Clinic Factoria. Photo: Clare McLean/UW Medicine

Teams at UWSOP and Fred Hutch look at emerging sickle cell disease therapies

The National Institutes of Health’s National Heart, Lung, and Blood Institute (NHLBI) funded a unique collaborative, The Sickle Cell Clinical and Economic Impact Consortium that brings together The CHOICE Institute at the UW School of Pharmacy (UWSOP), Fred Hutch, NHLBI, and The Emmes Corporation. The Collaborative enables the two teams at The CHOICE Institute and the Fred Hutch to develop models that will give insight into the clinical and economic benefits of cures for sickle cell disease over the lifetime of the patients. The goal is to clarify the potential long-term benefits of genetic therapies for this genetic disease. Results and public versions of the models will be made publicly available.

About 100,000 people in the U.S. are affected by sickle cell disease (2 sickle cell genes or one and another abnormal gene), a disproportionate percentage of which are black or Hispanic.  About one in 13 black or African Americans have sickle cell trait (1 sickle cell gene) and are at risk for having a child with the disease. The inherited blood disorder leads to many medical complications and shortens the life spans of people affected by about 20-30 years.

The disease can lead to episodes of excruciating pain, stroke, heart, lung, and kidney damage. The trauma of the pain and repeat hospitalizations for young children can cause stigmatization, depression, and social isolation. For people with living the disease, early intervention and access to care are vital for their long-term prognosis, physically and psychologically.

There are some promising new curative therapies on the horizon, which make the Consortium’s work timely and valuable.

Historically, the treatments have decreased the frequency and severity of complications. More recently, some patients have been cured with bone marrow transplantation with a sibling or alternate donor, but many do not have genetically well-matched marrow donors, and there can be serious complications.

With detailed feedback from all Consortium members and a variety of stakeholder inputs, the teams will develop simulation models for patients from the age of diagnosis over their lifetimes and investigate the state-specific estimates of comorbidities and complications, quality of life, health care utilization, and costs. Models will be informed using extensive literature review and datasets from both public and private sources, which will likely make these models the most comprehensive ever to be built around sickle cell disease in the United States. The potential impact of different types of curative therapies will be studied.

The researchers at the CHOICE Institute and Fred Hutch are global leaders in disease modeling, particularly for genetic diseases. The UW School of Pharmacy team is led by Principal Investigator and CHOICE Director Anirban Basu, with CHOICE Professor Beth Devine and Seattle Children’s M.A. Bender serving as co-investigators. Fred Hutch’s team is led by Dr. Joshua Roth along with co-investigator Dr. Scott Ramsey. Both groups have a long history of collaborative work.

“Our findings can inform the development strategies to use gene therapy to treat patients with severe sickle cell disease with the objectives of reducing disease complications, extending survival, and improving quality of life,” says Joshua Roth at Fred Hutch.  “Our team is very excited to apply our expertise in economic modeling to address these important issues.”


The collaborative agreement (OTA 1OT3HL152448) is funded by the NIH National Institutes of Health National Heart, Lung, and Blood Institute (NHLBI) for a potential duration of 3 years of funding totaling $3M for the UW team.