Predictive Clinical and Biological Parameters in Acute Leukemia, Myelodysplastic Syndromes and Myeloproliferative...
Acute LeukemiaMyelodysplastic Syndromes1 moreHEMATO-BIO-IPC-2013-015 is a monocenter prospective longitudinal study. Our aim is to define predictive clinical and biological factors in acute leukemia, myelodysplastic syndromes and myeloproliferative disorders by using genomics, genetics and epigenetics, in vitro and in vivo drug sensitivity studies,and translational immonulogy and immunomonitoring studies. HEMATO-BIO primary outcome measure is to identify molecular, genomic and epigenetic, pharmacologic and immunophenotypic alteration in acute leukemia, myelodysplastic syndromes and myeloproliferative disorders by collecting, at diagnosis and/or complete remission and/or relapse: tumor samples: marrow aspiration, blood sampling. non-tumor samples: skin biopsy, buccal swab . from 650 patients treated at our cancer center.
INSIGHT (Insight Into Nephrotic Syndrome)
Nephrotic SyndromeINSIGHT is a longitudinal study of childhood nephrotic syndrome to determine genetic, serologic and environmental factors contributing to nephrotic syndrome and disease progression.
Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients,...
Body Mass Index 25 or GreaterBRCA1 Gene Mutation9 moreThis pilot clinical trial studies different types of energy balance interventions to see how well they work in increasing the physical activity levels of breast cancer gene-positive patients, Lynch syndrome-positive patients, chronic lymphocytic leukemia (CLL) survivors or family members of cancer survivors who are at high risk for cancer. Increasing exercise and eating healthy foods may help reduce the risk of cancer. Studying how well different types of interventions work in motivating cancer survivors or high-risk family members to increase exercise and healthy food choices may help doctors plan the most effective motivational program for cancer prevention.
Respiratory and Physical Therapy in Patients With Associated Pulmonary Arterial Hypertension (APAH)...
Pulmonary Arterial HypertensionEisenmenger SyndromeThe purpose of this study is to investigate the influence of physical training on exercise capacity, quality of life, functional class, oxygen consumption and right ventricular function in patients with severe associated pulmonary arterial hypertension (APAH) as part of a congenital heart defect with / without Eisenmenger's Syndrome
The Genetics of Polycystic Ovarian Syndrome
Polycystic Ovary SyndromeThe goal of this study is to determine the genetic basis of polycystic ovary syndrome (PCOS). We will first look for genes in the Icelandic population, where large family trees are known and it is easier to search for genes. We will then determine whether these same genes are important in U.S. PCOS patients.
Study of Proteus Syndrome and Related Congenital Disorders
Proteus SyndromePIK3CA Related Overgrowth SpectrumThis study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients. Patients with Proteus syndrome and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed. Those enrolled in the study will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia...
Cornelia de Lange SyndromeThis research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de Lange Syndrome (CdLs). NAC is a known anti-oxidative stress and neuroprotective agent, which has been shown to decrease the occurrence of SIB such as skin picking. NAC has also shown partial response in trials for compulsive behaviors in Obsessive Compulsive Disorder (OCD) and related disorders in autism. Cornelia de Lange syndrome (CdLS) is a genetic disorder with autistic features, including RBs and SIB. In this randomized clinical trial, participants with CdLS will be blindly assigned one of two possible treatment arms: 1) placebo (8 weeks) and NAC (8 weeks); or 2) NAC (8 weeks) and placebo (8 weeks), with an intermediate 2-week washout period.
Clinical Routine in Thoracic Outlet Syndrome
Thoracic Outlet SyndromeTransversal recording and analysis of investigations performed in patients referred for suspected thoracic outlet syndrome (TOS)
Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial...
Colon AdenomaColon Carcinoma3 moreThis phase II trial studies how well nivolumab works in preventing colon adenomas in participants with Lynch syndrome and a history of surgery to remove part of the colon. Monoclonal antibodies, such as nivolumab, may interfere with the ability of tumor cells to grow and spread.
Quantify the Degree of Pain Relief of Pelvic Congestion Syndrome Following Gonadal Vein Embolization...
Pelvic Congestive SyndromePelvic PainThe primary objective is to quantify the degree of pain relief in patients undergoing gonadal vein embolization with coils as well as identify clinical or imaging factors that are predictive of a positive response to treatment, or poor response to treatment.