Achieving Understanding of the Natural History of Sickle Cell Trait (AUNT)

Project Rationale

The true contribution of sickle cell trait (SCT) on the possible manifestations of hemolysis, anemia and vaso-occlusion have not been well studied. While from a population perspective, individuals with SCT have minimal risk of sickle cell related complications, there is data supporting an increased risk of chronic kidney disease and hypercoagulability in individuals carrying SCT. The main purpose of this study primary objective is to create a longitudinal cohort of those with SCT to better understand the hematologic phenotype for those that carry HbS, assess for differences in those with varying quantities of HbS and assess for potential clinical complications of SCT.

Project Goals

• To create a longitudinal cohort enriched for individuals with SCT and to assess how this may differ based on levels of %HbS

• To understand the hematologic phenotype of SCT, evaluate the risk for chronic kidney disease (and other complications, including pain) in the SCT population

• To evaluate for potential modifiers in the SCT population

Time Commitment: 3 study visits over 3 years

Patient Characteristics and Treatment Patterns from Early Crizanlizumab Use in Real-world Setting: Preliminary Analysis from Select Sickle Cell Centers

Project Rationale

Crizanlizumab (Adakveo) was approved by the FDA in November 2019 and indicated to reduce the frequency of VOCs in adult and pediatric patients 16 years and older with SCD. Sponsored by the National Alliance of Sickle Cell Centers (NASCC), the purpose of this study is to describe the patient population currently receiving crizanlizumab at select NASCC member sites, including treatment patterns and, early, short-term treatment effectiveness.

The primary objective and purpose of this retrospective study is to describe the patients with sickle cell disease receiving treatment with crizanlizumab in US clinical practice.

Project Goals

• Describe outcomes in patients treated with at least 6 months of crizanlizumab

• Describe treatment patterns and adherence/persistence in patients treated with at least 6 months of crizanlizumab

• Compare outcomes associated with crizanlizumab treatment in patients with SCD (before and after first crizanlizumab initiation).

• Describe reasons for crizanlizumab treatment decisions, including but not limited to, treatment initiation, discontinuation, as available.

Globin Research Network for Data and Discovery (GRNDaD)

Project Rationale

Sickle cell disease is a genetic disorder caused by a single base substitution of valine for a glutamine at the sixth amino acid of the gene encoding for the hemoglobin β chain. Individuals living with sickle cell disease or other associated hemoglobinopathies suffer from a variety of clinical complications related to this abnormal hemoglobin.

These clinical manifestations include hemolytic anemia and painful or vaso-occlusive crisis that occurs when sludging in the microcirculation causes tissue hypoxia. Although sickle cell disease is considered an inflammatory state, little is understood about how different inflammatory markers associate with different phenotypes of the disease.  The successful characterization of biomarkers in sickle cell disease may prove to be helpful in risk-stratifying patients and could be a powerful tool in clinical trials of new therapies.

GRNDaD is a multisite registry developed by internationally recognized physicians who take care of both children and adults with sickle cell disease. GRNDaD also collects patient reported outcomes including surveys on health-related quality of life and information on pain and fatigue. Another major goal of GRNDaD is to use the data collected for quality improvement and assess how sickle cell centers are doing adhering to guideline recommendations. We then will use this information to develop appropriate interventions to improve adherence to recommendations which will lead to improved outcomes for this population.

Project Goals

• The goal is to collect longitudinal data on a cohort of people living with sickle cell disease to better understand how clinical characteristics predict outcomes.

• The local registry (at UAB) is used to follow individuals with SCD clinically, ensure they are up to date on preventative tests and treatments and monitor the effects of new therapies.

• To develop a repository for the long-term storage of patient samples (whole blood, peripheral blood, serum) along with corresponding demographic and clinical information to allow for clinic and laboratory correlations

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