Top 10 Sickle Cell Disease Stories of 2019

Sickle Cell Disease News brought you daily coverage of important discoveries, treatment developments, clinical trials, and other key events related to sickle cell disease (SCD) throughout 2019.

As we look forward to bringing you more news in 2020, we would like to remind you of the 10 most-read stories of 2019.

No. 10 – “Howard University President Launches ‘Run To Cure Sickle Cell’ Campaign”

In January, Sickle Cell Disease News reported on a campaign launched by Wayne A.I. Frederick, MD, president of Howard University, that sought to raise awareness and funds to support the school’s Center for Sickle Cell Disease. Proceeds from the campaign, called “Run to Cure Sickle Cell,” went toward expanding the center’s clinical and translational programs, supporting the development of new treatments, and improving community outreach programs, especially those that involved screenings for the sickle cell trait.

“Run to Cure Sickle Cell” finished in September in Washington, D.C.

No. 9 – “Sickle Cell Patients’ Diet Should Be Rich in Selenium, Researchers Say”

A team of Brazilian researchers reported — in a study published in the journal Nutrients — that low levels of selenium in people with SCD were linked to red blood cells’ damage and destruction. Selenium is a nutrient that plays an important role in the body’s defense system against oxidative stress, which refers to the cellular damage caused by the presence of oxidant molecules.

In the study, which enrolled a total of 51 SCD patients, the researchers found that 93.5% of participants had very low levels of selenium in their blood. They also found that lower levels of selenium were directly associated with high levels of markers of red blood cell damage and destruction, including lactate dehydrogenase and bilirubin.

Ingesting more selenium-rich foods, such as seafood, organ meats, cereals, and dairy products, may help those with SCD improve their overall health, according to the investigators.

No. 8 – “CTX001 Earns FDA’s Fast Track Status for Treating Sickle Cell Disease”

The U.S. Food and Drug Administration (FDA) granted fast track status to CTX001, an investigational therapy co-developed by CRISPR Therapeutics and Vertex Pharmaceuticals, Sickle Cell Disease News reported last year in January. The therapy uses the CRISPR gene-editing tool to increase the production of fetal hemoglobin in patients’ red blood cells, in an attempt to overcome the lack of functional hemoglobin caused by SCD.

The safety and efficacy of CTX001 is being investigated in adults with severe SCD participating in a Phase 1/2 trial (NCT03745287) sponsored by Vertex. The study is still recruiting participants in several sites across the U.S., Canada, and Europe.

The company also recently launched a long-term follow-up study, not yet recruiting, for patients treated with the therapy (NCT04208529).

No. 7 – “Crizanlizumab Designated FDA Breakthrough Therapy for Potential in Vaso-occlusive Crisis Prevention”

Sickle Cell Disease News reported in January that the FDA had granted breakthrough therapy designation to crizanlizumab, a monoclonal antibody developed by Novartis that would earn the agency’s approval before the end of the year. Crizanlizumab is the first treatment to block the activity of P-selectin, which reduces the risks of painful vaso-occlusive crises (VOCs) in SCD patients.

The decision to grant this designation was based on data from the company’s multicenter, randomized, double-blind, 52-week, Phase 2 SUSTAIN trial (NCT01895361). Findings from SUSTAIN showed that people with sickle cell disease who received crizanlizumab at a dose of 5 mg/kg had a 45.3% reduction in the frequency of annual VOCs requiring medical assistance compared with those treated with a placebo. In addition, crizanlizumab increased the number of patients who never experienced VOCs from 16.9% to 35.8% during the course of the study.

Data from SUSTAIN also ended up supporting the FDA’s approval of crizanlizumab — with the brand name Adakveo — in November.

No. 6 – “Pfizer Executive Outlines Vision for Treating Sickle Cell Disease, Other Rare Diseases”

In March, Sickle Cell Disease News interviewed Michael Wajnrajch, MD, senior medical director of Pfizer’s Rare Disease Group, to discuss the company’s commitment to and investment in the development of new therapies for rare disorders, including SCD. Wajnrajch, also a pediatric endocrinologist on the faculty of New York University, noted that Pfizer launched a collaborative digital platform called oneSCDvoice in 2018 to educate and lend emotional support to people living with sickle cell disease.

The company also collaborated with GlycoMimetics to develop Rivipansel (GMI-1070), a potential new preventive treatment for VOCs. The therapy’s efficacy and safety have been evaluated in the Phase 3 RESET trial (NCT02187003). RESET enrolled 345 SCD patients and, according to Pfizer, has failed to meet several key efficacy endpoints.

In the interview, Wajnrajch also said that Pfizer is currently pursuing gene therapies for both hemophilia and Duchenne muscular dystrophy (DMD).

No. 5 – “How Diet Can Help Support Sickle Cell Patients: A Nutritionist’s View”

An article written by Alana Kessler, MS, RD, CDN, E-RYT, a registered dietitian, nutritionist, and weight management expert, highlighted how nutritional interventions may be used to complement standard treatments for SCD and to improve the overall health and nutritional status of those living with the disease.

According to Kessler — also an accredited member of the Commission on Dietetic Registration (CDR) and the American Dietetic Association — diets rich in proteins, micronutrients, and antioxidants, in combination with treatment, may help reduce the risks of infection, inflammation and pain. At the same time, these diets may promote the normal function of the immune system, ultimately lowering both the morbidity and mortality associated with SCD.

No. 4 – “Loma Linda Hospital ‘Effecively Cures’ Girl Using Stem Cells Transplanted from Dad, Report Says”

The first successful stem cell transplant (SCT) performed at the Loma Linda University Children’s Hospital in California “effectively cured” an 11-year-old girl with SCD, Sickle Cell Disease News reported in April. The procedure involved replacing the girl’s red blood cell precursors — found within the bone marrow, which is the site within the bones where these cells are produced — with healthy stem cells taken from her father.

The father’s stem cells were infused once the girl had completed a course of conditioning chemotherapy to eliminate her unhealthy stem cells.

The transplant was a success and the girl is currently disease-free.

The treatment was made possible under a relatively new hospital program dedicated to treating those living with rare blood disorders, specifically SCD and hemophilia. More information about  the program can be found here.

No. 3 – “Voxelotor Before FDA for Approval as Possible Disease-modifying Treatment for Sickle Cell”

In September, the FDA gave priority review to voxelotor (GBT440), a disease-modifying treatment for SCD developed by Global Blood Therapeutics, Sickle Cell Disease News reported. The therapy, which increases hemoglobin’s affinity to oxygen — ultimately preventing red blood cells from becoming deformed — was approved by the FDA in November.

Both the priority review decision and the FDA’s ultimate approval were based on data from the company’s Phase 3 HOPE trial (NCT03036813), which investigated the safety and efficacy of voxelotor in 274 SCD patients ages 12 to 65.

Findings from HOPE showed that — when administered daily at a dose of 1500 mg — voxelotor lowered the levels of two biomarkers of red blood cell damage, specifically reticulocytes and bilirubin. The treatment also increased the levels of hemoglobin in the blood of treated patients.  It was found to be both safe and well-tolerated.

Voxelotor — now known as Oxbryta — won FDA approval in November.

No. 2 – “First Patient Enrolled in Phase 1/2 Trial Testing CTX001 for Severe Sickle Cell Disease”

The first U.S. patient in the Phase 1/2 trial (NCT03745287) testing the safety and efficacy of the investigational therapy CTX001 was enrolled in February 2019, Sickle Cell Disease News reported that month. The experimental therapy, jointly developed by CRISPR Therapeutics and Vertex Pharmaceuticals, had previously received fast track status from the FDA.

The study, which is still recruiting participants, is expected to enroll approximately 45 adults with severe SCD, ages 18 to 35.

CTX001 is an investigational treatment that uses CRISPR/Cas9 gene-editing technology to treat blood disorders caused by defects in hemoglobin, including beta-thalassemia and SCD.

No. 1 – “FDA Approves Oxbryta, 1st Treatment Targeting Root Cause of Sickle Cell”

In November, Sickle Cell Disease News covered the approval of Oxbryta (voxelotor), the first treatment for SCD that addresses the root cause of the disease.

The FDA had granted accelerated approval to Oxbryta based on data from the Phase 3 HOPE trial (NCT03036813), which demonstrated the therapy’s superiority over a placebo at raising the levels of hemoglobin and lowering the levels of biomarkers of red blood cell damage in the blood of SCD patients.

According to Global Blood Therapeutics, the therapy’s developer, Oxbryta will continue to be tested in a post-approval confirmatory study, called HOPE-KIDS 2. That trial is expected to enroll up to 224 children with SCD, ages 2 to 15, who will be randomly assigned to receive either Oxbryta tablets at a daily dose of 1500 mg — its now approved dose — or a placebo for up to 96 weeks.

Sickle Cell Disease News hopes these stories and our reporting throughout 2020 contribute to informing and improving the lives of people with SCD, and their friends and family members.

We wish all our readers a happy 2020.