Predicting Hydroxyurea Responses in Children with Sickle Cell Anemia

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2131-2131 ◽  
Author(s):  
Russell E. Ware ◽  
Nicole A Mortier ◽  
Matthew P Smeltzer ◽  
Thad A Howard ◽  
Amy C Kimble ◽  
...  

Abstract Abstract 2131 Background: Over the past 15 years, numerous prospective and cross-sectional clinical trials have demonstrated that hydroxyurea has both laboratory and clinical efficacy for pediatric patients with sickle cell anemia (SCA). In infants, toddlers, children, and adolescents, hydroxyurea administered at maximum tolerated dose (MTD) leads to significant increases in hemoglobin (Hb) concentration, MCV, and %HbF along with simultaneous decreases in neutrophils, reticulocytes, total bilirubin, and serum lactate dehydrogenase. Clinical benefits include reduction in acute vaso-occlusive events (pain and acute chest syndrome), and emerging data suggest protection against chronic organ damage with a low risk of genotoxicity. For individual patients, however, the %HbF response to hydroxyurea and the MTD dose itself are highly variable. Currently there are no accurate predictors of the final %HbF or the MTD dose. Methods: To address the phenotypic variability, the Hydroxyurea Study of Long-Term Effects (HUSTLE, NCT00305175) was designed to capture prospectively first-dose (20 mg/kg) pharmacokinetics (PK) of hydroxyurea including maximum serum concentration (Cmax), area under the concentration curve (AUC), apparent oral clearance (CL/F), half-life (t1/2), and apparent volume of distribution (V/F). A consistent dose escalation schedule was then used to achieve a stable MTD, at which time PK studies were repeated and hydroxyurea responses (%HbF and MTD dose) were recorded along with other pharmacodynamics parameters. Results: After written informed consent, a total of 98 pediatric patients commenced hydroxyurea, 65 of whom reached MTD with complete paired PK information. In the majority of patients (39 of 65), a ‘fast/slow’ absorption phenotype identified at first-dose PK analysis was retained at MTD, supporting the concept of a genetic basis for this variation. Inter-individual PK variability was substantially greater than intra-individual variability; for example, the coefficient of variation (%CV) for CL/F was 44.4% on day 1 and 42.3% at MTD among all subjects, but averaged only 12.8% within the same subject. The CL/F was partly dependent on the rate of absorption but was most strongly influenced by subject weight and serum creatinine. At MTD, the average AUC was 114 ± 22.3 mg·h/mL, and the %CV of AUC was reduced from 24.8% on first-dose PK to 19.5% at MTD, likely reflecting dose titration toward a common degree of myelosuppression. In an attempt to predict the MTD dose toward this target AUC using data available at baseline, ‘best-fit’ equations were developed such as the following with or without PK data: Predicted MTD (mg/kg/day) = 31.9 - [17.1*Baseline Creatinine] - [0.14*Baseline BMI] + [0.0036*Baseline ARC] Predicted MTD (mg/kg/day) = 32.6 - [15.1*Baseline Creatinine] - [0.16*Baseline BMI] - [0.56*First-dose half-life] + [0.0034*Baseline ARC] - [0.48*PK phenotype (fast=0, slow=1)] A simpler equation for predicting MTD dose using only baseline creatinine and weight was then developed: Predicted MTD (mg) = 400 - [1000*Baseline Creatinine] + [21*weight] Conclusions: The relatively small intra-individual PK variability at hydroxyurea MTD compared to baseline PK studies, coupled with a similar degree of drug exposure when patients achieve a stable MTD, supports future investigation to predict the optimal hydroxyurea dose prior to the first dosing. Prediction equations of the MTD should be tested prospectively against standard dose-escalation schedules. Disclosures: Off Label Use: Hydroxyurea for children with sickle cell disease.

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 12-12
Author(s):  
Yusra D Shaikh ◽  
Nataly Apollonsky ◽  
Bruce Bernstein

Introduction:Significant morbidity and mortality in patients with sickle cell disease (SCD) is attributed to the pulmonary sequalae of the disease. Patients with SCD often suffer airway hyper-reactivity, acute chest syndrome (ACS), chronic lung disease, pulmonary hypertension (PHTN), and obstructive sleep apnea (OSA). Recent literature has provided evidence supporting the strong association between asthma and airway hyper-reactivity in SCD. One of the factors linked to chronic inflammation and asthma is iron status. The present study examined whether iron levels are associated with pulmonary complications in pediatric patients with SCD. Method:Through retrospective review of electronic medical records (EMR) we evaluated patients with diagnosis of asthma and SCD. All patients with available PFT (3/21/2013-3/11/2020) and iron studies were included in the analysis. Chi square and ANOVA tests were used to explore relationships of respiratory conditions with lab data and relevant medical history. Results:The analysis reviewed information of 100 patients with SCD -- 56 males and 44 females The sample population had the following genotypes: 63% Hemoglobin (Hb) SS, 23% Hb SC, 2% Hb S Beta Zero Thalassemia, and 12% Hb S Beta Thalassemia. 38% of these patients were receiving treatment via hydroxyurea. The results generated found that patients with a large airway obstruction (LAO) had a marginally statistically significantly higher serum iron level than those with no LAO (p=0.067.) Patients with homozygous Hb S disease were four times as likely to have a history of ACS (p=0.004) than those without and were marginally significantly more likely to be SS and SB0Thal (p=0.052). Patients with history of ACS had a significantly higher mean iron saturation and lower total iron binding capacity (TIBC.) Patients with PHTN had significantly higher serum iron levels (p=0.029). Conclusion:Our findings reveal that while iron might play a more significant role in the development of PHTN and ACS in patients with SCD, the role in asthma is borderline in our sample. These findings, although of borderline statistical significance p=0.067, are clinically noteworthy. These results may open a new window for therapy targeted at maintaining iron in normal physiologic ranges to decrease pulmonary complications in patients with sickle cell anemia. Further studies with larger samples are necessary to clarify the meaning of our marginally significant findings. Disclosures No relevant conflicts of interest to declare.


2020 ◽  
Vol 35 (6) ◽  
pp. e197-e197
Author(s):  
Salam Alkindi ◽  
Taqwa Al-Yahyai ◽  
Sameer Raniga ◽  
Mohamed Rachid Boulassel ◽  
Anil Pathare

Objectives: Patients with sickle cell anemia (SCA) are immunocompromised and at an increased risk of developing infections. Our aim was to establish the clinical, laboratory, and radiological manifestations of respiratory viral infections in SCA at Sultan Qaboos University Hospital (SQUH), Oman and assess its impact on disease morbidity and mortality, with special emphasis on H1N1. Methods: We undertook a retrospective study in SCA patients with respiratory viral infections following up at the hematology department at SQUH. We collected demographic data and clinical, radiological, and laboratory parameters. Results: In 84 SCA patients with 109 admission episodes for vaso-occlusive crisis (VOC), molecular diagnostic techniques confirmed 125 respiratory viral infections. Rhinovirus was the most prevalent infection (35.8%), whereas H1N1 virus infection was seen only in 10.1%. Laboratory investigations revealed a significant fall in mean hemoglobin levels, mean white blood cell, and platelet counts from baseline, whereas there was a significant rise in the mean lymphocyte and retic count, serum lactate dehydrogenase, and C-reactive protein levels during infective episodes (p < 0.050, Wilcoxon signed rank test). One-third (32.1%) of the VOC episodes progressed to acute chest syndrome (ACS), but in the H1N1 cohort, only two episodes of ACS was seen (18.2%). Conclusions: Rhinovirus was the commonest respiratory virus infections in SCA patients, whereas parainfluenza 3 was associated with a significant adverse outcome. H1N1 was associated with a mild course. ACS was seen in approximately one-third of this group of patients.


Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 820-820 ◽  
Author(s):  
Jenny McDade ◽  
Jonathan M Flanagan ◽  
Nicole Mortier ◽  
Matthew Smeltzer ◽  
Thad A Howard ◽  
...  

Abstract Abstract 820 Introduction: Hydroxyurea therapy has proven laboratory and clinical efficacy for ameliorating the signs and symptoms of sickle cell anemia, primarily by increasing the level of fetal hemoglobin (HbF). Virtually all treated pediatric patients will have symptomatic benefit and improvement in laboratory parameters associated with disease severity, including increased HbF and decreased white blood cell (WBC) count and lactate dehydrogenase (LDH). However, significant inter-patient variability exists in the maximum tolerated dose (MTD) of hydroxyurea and some patients have exaggerated toxicity (excessive myelosuppression) at relatively low doses. Similarly, there is substantial variation in the degree of response for relevant laboratory parameters such as HbF and LDH. We hypothesized that genetic polymorphisms may play an important role in the observed inter-patient variability for both hydroxyurea response and toxicity. Methods: Pediatric patients enrolled in the prospective Hydroxyurea Study of Long-term Effects (HUSTLE, NCT00305175) were eligible for analysis, including 72 subjects who had reached hydroxyurea MTD based on standardized criteria with dose escalation to mild bone marrow suppression. Candidate genes were selected based on a presumed effect on hydroxyurea pharmacokinetics (PK) or pharmacodynamics (PD) such as putative HbF modifiers, ribonucleotide reductase, and urea transporters. For these candidate genes, sequencing was performed for single nucleotide polymorphism (SNP) discovery. In addition, published genetic modifiers were studied to validate the proposed effect on hydroxyurea responses. Each SNP was first tested for Hardy-Weinberg equilibrium and then tested for association with three variables: MTD HbF, MTD LDH, and MTD hydroxyurea dose (mg/kg/day) using Least Squares Regression in dominant, co-dominant, and recessive genetic models. Results: The average age (mean ± 1SD) at hydroxyurea treatment initiation was 8.4 ± 4.9 years, with 58% males. The average MTD dose was 25.8 ± 4.2 mg/kg/day (median 26.7, range 14.2 – 35.5 mg/kg/day). The average MTD laboratory values for this cohort included hemoglobin (Hb) = 9.7 ± 1.1 gm/dL, mean corpuscular volume (MCV) = 110 ± 12 fL, HbF = 24.5 ± 7.4%, and LDH 432 ± 158 U/L, all significantly different than baseline values (p <0.001). In the process of SNP discovery within the candidate genes, 331 genetic variants were identified including 124 novel SNPs; an additional 14 previously published SNPs in 5 genes were also included. Based on the projected allele frequency, haplotype associations, and type of genetic variant, a total of 70 unique SNPs in 18 genes with allele frequency ≥ 0.10 were included in the final genetic analyses. There were 19 SNPs identified with statistically significant associations for at least one MTD variable (6 SNPs with effect on MTD HbF, 7 with effect on MTD LDH, and 9 with effect on MTD dose), with p-values ranging from 0.0015 to 0.041. Genetic polymorphisms in the UTB, RRM2, BCL11A, and HbS1L-MYB genes had multiple significant associations. Summary and Conclusion: In the prospective HUSTLE study that includes standardized hydroxyurea dose escalation to MTD, significant associations were identified between candidate gene variants and the MTD phenotype for HbF, LDH, and hydroxyurea dose. SNPs in candidate genes previously reported to be important in basal HbF regulation were significant for MTD dose and novel SNPs in the urea transporter UTB were also significantly associated with MTD HbF. These results support the hypothesis that genetic modifiers play an important role in the treatment and toxicity responses to hydroxyurea therapy for children with SCA. Disclosures: Off Label Use: Hydroxyurea for children with sickle cell anemia.


2017 ◽  
Vol 57 (2) ◽  
pp. 243-254 ◽  
Author(s):  
Brian A. Moser ◽  
Elizabeth S. LaBell ◽  
Emmanuel Chigutsa ◽  
Joseph A. Jakubowski ◽  
David S. Small

Cytokine ◽  
2017 ◽  
Vol 97 ◽  
pp. 104-107 ◽  
Author(s):  
Vanessa Tonin Garrido ◽  
Laura Sonzogni ◽  
Siana Nkya Mtatiro ◽  
Fernando F. Costa ◽  
Nicola Conran ◽  
...  

2020 ◽  
Vol 31 (1) ◽  
pp. 106-119
Author(s):  
Elisha Osati ◽  
Edward Kija ◽  
Florence Urio ◽  
Magdalena Lyimo ◽  
Siana Nkya ◽  
...  

Background: The pathophysiology of sickle cell disease (SCD) is complex and involves nitric oxide depletion, increased inflammation/adhesion molecules and vaso-occlusion in addition to the chronic hemolytic anemia. This pathophysiology results in systemic clinical complications including recurrent episodes of severe pain, stroke, acute chest syndrome (ACS) and an increased susceptibility to infection. SCD severity varies among individuals and fetal hemoglobin (HbF) is known as a major modulator of the disease. To date, hydroxyurea (HU) is a known intervention that acts by increasing HbF in individuals with SCD. The increase in HbF reduces the risk of ‘sickling’ events and improves clinical outcomes. This is the first study on the use of HU in individuals with SCA in Tanzania.Methods: A case-control study to determine the proportion, indications, clinical and laboratory outcomes of SCD patients with HU use was conducted at Muhimbili National Hospital in Dar Es Salaam, Tanzania.Results: Forty-two patients with Sickle cell anemia (SCA) on HU treatment and 32 patients with SCA not on HU treatment were enrolled. The proportion of HU use by individuals with SCA at Muhimbili National Hospital was 10 per 1000. The mean HbF % was 9.8 ± 2.4 vs 6.2 ±1.4 for controls (P <0.001). Thirty (71.4%) were enrolled for HU treatment due to central nervous system (CNS) events, frequent painful crises 11(26.2%) and recurrent anemia 1(2.4%). Thirty-two SCA patients (76.2%) reported improvements after being on HU for at least six months. Of these, 91% reported no history of severe pain that required hospitalizations since they started HU. Twenty patients (66.7%) out of those with CNS events reported not to have experienced convulsions after HU initiation.Conclusions: HbF was higher in patients who were on HU and had positive correlation with clinical outcomes. Further clinical trials are required to evaluate more effects of HU use among SCA individuals in Tanzania. Keywords: Sickle cell anemia, HU, Fetal hemoglobin, Tanzania.


2014 ◽  
Vol 22 (6) ◽  
pp. 484-489 ◽  
Author(s):  
Fernanda Lourenção BRIGHENTI ◽  
Amanda Coelho MEDEIROS ◽  
Bruno Mello MATOS ◽  
Zulene Eveline Abreu RIBEIRO ◽  
Cristiane Yumi KOGA-ITO

2007 ◽  
Vol 42 (3) ◽  
pp. 272-276 ◽  
Author(s):  
Karl P. Sylvester ◽  
Richard A. Patey ◽  
Gerrard F. Rafferty ◽  
David Rees ◽  
Swee Lay Thein ◽  
...  

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