Active clinical trials for "Syndrome"

The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.

Our research will examine whether the presence or absence of serial electrocardiogram (ECG) changes aids in reclassifying participants' risk for major adverse cardiac events (MACE) over and above serial blood testing.

Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder which affects the nerve-muscle junction. The major symptoms of LEMS are progressive muscle weakness. Many patients experience other symptoms like dry mouth or impotence. Congenital Myasthenia (CM) is an inherited disorder with similar affects and symptoms. 3,4-Diaminopyridine (DAP) is an experimental drug that has improved strength in some subjects with (LEMS). There are no other accepted treatments for LEMS and DAP has relatively few side effects.

This register will evaluate the use of different antithrombotic therapies, combinations of different drugs routinely used during any stage of hospital admission, with their timing, dosage and mode of administration, in patients with a diagnosis of Acute Coronary Syndrome in the Italian Coronary Care Unit during a study period of three weeks

A prospective cohort follow-up study design is undertaken. Both males and females with mild to moderate carpal tunnel syndrome will receive standard-of-care wrist splint for 6 weeks and undergo follow up studies for data collection. Controls will also be seen for a one time visit.

Different study of HLHa patients : Diagnosis criteria, because criteria are based on pediatric genetic studies. Physiopathological studies: genetic studies have demonstrated the role of CD8+ cells, in particular because they have a genetic defect affecting their cytotoxic functions in HLH pediatric. the aim is to establish if the same defect is found in both some or in all of HLHa patients. If this is the case, to then establish whether hypomorphic genetic mutations are responsible.

The purpose of this study is to see if the CoaguChek XS is accurate in measuring International Normalized Ratio (INR) in patients with Antiphospholipid Antibody Syndrome (APL) receiving warfarin therapy.

This is a multicenter, prospective, observational investigation, focusing of antiplatelet treatment in patients with moderate to high risk acute coronary syndrome (TIMI risk score ≥3)subjected to percutaneous coronary intervention (PCI), being conducted in 7 PCI capable hospitals in Greece. Data concerning patients' demographic, clinical/procedural characteristics and contraindications/special warnings and precautions to P2Y12 inhibitors are collected during initial hospitalization. Study involves 3 follow-up visits after hospital discharge(Day 30, at 6 months and at 12 months) where data on major adverse cardiac events (death, myocardial infarction, stroke, urgent revascularization procedure with PCI or CABG), bleeding events(according to Bleeding Academic Research Consortium criteria)and adherence to antiplatelet treatment are collected. In patients under ticagrelor or prasugrel treatment, platelet reactivity measurement with VerifyNow assay will be performed at Day 30

It is the objective of this study to collect scientific data of sleep apnoea syndrome patients´ cardiac and respiratory function by additional sensors.

This protocol has provided 3,4 diaminopyridine (DAP) under a treatment-use IND to patients with congenital myasthenic syndrome (CMS). It is currently closed to enrollment.