Platelet Deficiencies Clinical Trials

After volunteers and family members agree to participate, they are seen in the Outpatient Research Center by the Principal Investigator or another physician. A detailed history is obtained, a physical examination is performed, and blood is obtained for further tests. Occasionally patients and family members are requested to return for ...

Fabry disease (FD) is a severe X-linked inborn error of the lysosomal glycosphingolipid metabolism. FD patients have significantly increased risks for cardiac and cerebrovascular events, which can also occur early and in absence of the typical FD symptoms. However, the pathophysiological mechanisms leading to vascular occlusion and ischemia in FD ...

Research Question: Is standard prophylaxis effective for all hemophilia A patient? Which are the causes for poor clinical response in some patients on prophylactic treatment? Can differences in PK impact the clinical outcome and effectiveness of prophylaxis? For a given group of poor controlled patients in standard prophylaxis, may personalized ...

Objectives Delineating the cause of the thrombocytopathy in Gaucher disease patients: Identifying thrombocytopathy among a cohort of 70 Gaucher patients managed (treated and untreated) in our clinic using a panel of platelets function tests. Understanding the etiology for platelets dysfunction in Gaucher disease. Evaluating the impact of Imiglucerase treatment duration ...

PRIMARY OBJECTIVES: I. To evaluate the rate of relapse, defined as recurrence of underlying disease or progression of underlying disease, at 1 year in patients who receive haploidentical peripheral blood stem cells (PBSCs) after reduced intensity conditioning and post-transplant cyclophosphamide. SECONDARY OBJECTIVES: I. To evaluate safety including development of acute ...

This is a study to collect the outcomes of stem cell transplantation for patients with hematologic diseases other than cancer.

A single site observational study aiming to: (i) Identify cases of previously undiagnosed thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic syndrome (aHUS) in a cohort of women with complicated pregnancies (ii) Characterise the clinical features of these cases and (ii) Identify clinical features or biomarkers which may help distinguish TTP/aHUS ...