The European Network for Rare and Congenital Anaemias (ENERCA) is a project funded by the European Commission through the Executive Agency for Health and Consumers (EAHC). e-ENERCA is the result of three previous phases (ENERCA 1, 2 and 3) that have been successfully developed during the last decade (2002-2012). During the next three years it will develop modern e-Health tools for a better management and knowledge of rare anaemias.

• • • After 10 years of history, e-ENERCA is not just a continuation of ENERCA 3 but a clear step forward to the consolidation of the European Reference Network of Centres of Expertise on Rare Anaemias.
    • e-ENERCA will develop during the next three years a pan-European e-health platform for teleexpertise/telediagnosis, electronic registry/epidemiological electronic health records and e-learning.
    • Coordinated from IDIBAPS in Barcelona (Catalonia, Spain), the project joins the efforts of 26 expert centers in rare anaemias from 11 European countries. Cooperation between countries is crucial in the fight against rare diseases.

More information: ENERCA announcement, ENERCA website

The CENTAurus trial is a prospective clinical study designed to address systematically some of the relevant endocrine complications in an iron overloaded thalassemic population, primary objective being the assessment of the effect of deferasirox therapy on glucose metabolism/homeostasis. Other endocrine parameters complementary or supportive to the primary objective will be assessed and analyzed during this study. A number of lab parameters related to other axes of the endocrine system will be collected and analyzed.

More information: clinicaltrials.gov, ITHANET Clinical Trials

The primary study hypothesis is that inhibition of factor Xa with rivaroxaban will reduce inflammation, coagulation and endothelial cell activation, and improve microvascular blood flow in patients with sickle cell disease (SCD) during the non-crisis, steady state. To test this hypothesis, this study will evaluate the effects of rivaroxaban on:

• • • plasma markers of inflammation
    • plasma markers of endothelial activation
    • plasma markers of thrombin generation
    • microvascular blood flow assessed using laser Doppler velocimetry (LDV) of post-occlusive reactive hyperemia (PORH)

In a cross-over design, subjects will receive rivaroxaban 20 mg/day and placebo for 4 weeks each, separated by a 2-week washout phase.

More information: clinicaltrials.gov, ITHANET Clinical Trials

In patients with hereditary anemias (e.g. thalassemias), defective red blood cells are produced due to an error in the genes, or DNA, that provide the instructions for their synthesis. As a result, hereditary anemias are characterized by chronically low hemoglobin, which is contained inside red blood cells and carries oxygen throughout the body. In more severe cases, patients are dependent on frequent blood transfusions to replenish the hemoglobin.

The body has limited ability to get rid of excess iron. However, with repeated blood transfusions, the iron level in the body builds up because the red blood cells contain iron as heme. Over time, the high level of iron accumulates in organs such as the heart, liver, and pancreas causing heart problems, liver failure, and diabetes. As a result, patients who receive multiple blood transfusions need to be monitored for iron overload, and be started on medical therapy in a timely fashion to prevent organ damage. Liver is usually the first and the most affected organ by iron accumulation, so knowledge of its iron concentration provides estimate of total body iron load.

Liver biopsy is the gold standard in measuring the iron concentration in the liver, but it is invasive and cannot be performed on routine basis. MRI is another option that can assess liver iron concentration non-invasively, and is currently recommended for monitoring iron load on a yearly basis. However, MRI has a high cost and is not easily accessible in Canada. The investigators aim to determine if transient elastography (Fibroscan), which is a form of ultrasound that measures liver stiffness, can accurately assess liver iron concentration.

More information: clinicaltrials.gov, ITHANET Clinical Trials