Early stage clinical trials for the treatment of hemophilia A.

INTRODUCTION: Hemophilia A is a severe bleeding disorder affecting about 1 in 5,000 males. The gold standard for prophylaxis and treatment of acute bleeding has been factor (F) VIII concentrate. A multitude of treatment modalities are now available and under clinical investigation. AREAS COVERED: This review discusses ongoing/recently completed early-phase clinical trials registered on ClinicalTrials.gov in patients with hemophilia A through April 2022. These new pipeline therapies are focused on addressing the safety and efficacy of new factor-related products, non-factor related products, and gene therapy options for hemophilia. EXPERT OPINION: Current standard of care effectively prevents and treats acute bleeding and has significantly improved the quality of life in hemophilia. The biggest challenges in the improvement of care are treatment-related burden and the burden of cost in developing countries. New drugs under development are likely to enter practice by the end of this decade and address many of the unmet needs particularly of those with severe disease. Data is limited in unique populations (e.g. congenital/inherited FVIII inhibitors, non-severe hemophilia A, women/girls with hemophilia and children) which are important areas for future research; additional clinical trials and long-term outcome data are necessary prior to incorporating these new therapies in our treatment arsenal.

Developmental Hemostasis: The Evolution of our Coagulation System.

Developmental hemostasis describes the evolution of the coagulation system from the neonatal period through adulthood. Neonates have lower levels of coagulation factors and elevated screening levels at birth. These levels can be influenced by various circumstances including gestational age, labor effects, and clinical status. The most commonly used screening tests for coagulopathy are the prothrombin time, partial thromboplastin time, and fibrinogen level. These values can be difficult to interpret as every laboratory has its own age-specific reference ranges. An understanding of developmental hemostasis is important when evaluating, diagnosing, and treating clinical manifestations, including vitamin K deficiency, surgical needs, infections, inherited thrombophilias, and inherited bleeding disorders. The mainstay of treatment for bleeding or hemorrhage is platelet and fresh frozen plasma transfusions. For the treatment of thrombosis, unfractionated heparin and low-molecular-weight heparin are the 2 most commonly used anticoagulants in the neonatal setting.

Juvenile Hemochromatosis in an Asymptomatic Patient-Importance of Early Diagnosis.

Juvenile hemochromatosis is a rare inherited disorder of iron regulation leading to iron overload, which usually presents before the age of 30. One of the most serious clinical characteristics associated with early-onset iron overload is liver disease with eventual cirrhosis, often associated with a reduced life expectancy even after treatment. This case report summarizes an asymptomatic pediatric patient with persistently elevated transaminase levels, which led to a diagnosis of juvenile hemochromatosis relatively early in the course of his disease. The aim of this case report is to increase awareness and stress the importance of early diagnosis and treatment, as it is vital to prevent life-threatening complications and optimize patient outcomes. Consideration should be taken to recognize potential manifestations despite the rarity of the condition. Patients with signs of hepatocellular injury without explanation should prompt evaluation including consideration for iron overload after other common causes are ruled out.