Randomized Controlled Trial (RTC) testing the efficacy of a telehealth adaptation of the Cognitive-Remediation of Executive and Adaptive Deficits in Youth (C-READY) intervention to prepare adolescents with sickle cell disease for transition of care.
The purpose of this study to evaluate the effect of concomitant administration of GBT440 on caffeine (a CYP1A2 probe substrate), S warfarin (a CYP2C9 probe substrate), omeprazole (a CYP2C19 probe substrate), and midazolam (a CYP3A4 probe substrate) plasma concentrations.
Secretory phosholipases A2 (sPLA2) are significantly elevated in the plasma of sickle cell disease patients with acute chest syndrome (ACS), and similar enzymes have been measured in exhaled breath condensate (EBC), which is collected easily and non-invasively. The investigators hypothesize that sPLA2 will be measurable in EBC samples from sickle cell patients with acute chest syndrome.
Since 1987, a screening for β Thalassemia in pregnant women is carried on in northern Israel, and from 1999 all the samples were tested also for Hgb S, Hgb C, Hgb D, Hgb O Arab and others.
In this study, the investigators intend to summarize the results of this preventive program aiming to detect couples at risk for having offspring with Thalassemia or SCA, the compliance regard to genetic counseling and prenatal diagnosis and the incidence of new affected babies born.
This is a prospective, interventional, phase II, open-label, multicentre, national, non-comparative study of a single administration of the new dispersible form of hydroxycarbamide at the usual dose in children with sickle cell disease who are already treated with the current form of hydroxycarbamide (Siklos® 100 mg and/or 1000 mg film-coated tablets).
Suboptimal vitamin D status is well reported in sickle cell disease (SCD) patients and associated with a negative impact on health-related quality of life (HRQL). The investigators enrolled 42 SCD patients and 42 healthy controls, subjects within each group received monthly oral vitamin D3 dose according to the baseline status of vitamin D as follows: sufficient: 100,000 IU, insufficient: 150,000 IU, and deficient: 200,000 IU. The investigators assessed safety and efficacy on normalization of vitamin D level, bone mineral density (BMD), hand grip strength (HGS), and HRQL.
Sickle cell disease is a genetic disease responsible for an abnormal hemoglobin.The anomaly has several consequences: a low hemoglobin rate (chronic anemia), plugs formed by red blood cells in blood vessels (extremely painful vaso-occlusive crises) and greater susceptibility to infections.
Sickle cell disease (SCD) is a common genetic disorder characterized by episodes of pain, yet assessments to identify type, intensity, frequency, and phase of pain among SCD adolescents is lacking. Research shows that interactive gaming technology can enhance adolescents' learning, and can be especially effective in delivering health-related messages and tools to improve their self-care. Pinpoint is an interactive gaming tablet app that will be developed with the significant input of clinical experts to assist SCD teens with better identification and self-report of their pain.
The goal of this research study is to establish chimerism and avoid graft-versus-host disease in patients with Hemoglobinopathies to halt disease progression.
FT-4202 is an oral small-molecule agonist of pyruvate kinase red blood cell isozyme (PKR) being developed for the treatment of hemolytic anemias. This initial study will characterize the safety, tolerability and the pharmacokinetics/pharmacodynamics (PK/PD) of a single ascending dose and multiple ascending doses of FT-4202 in the context of Phase 1 studies in healthy volunteers and sickle cell disease patients. The effects of food on the absorption of FT-4202 will also be evaluated in healthy volunteers.