View clinical trials related to Syndrome.
Filter by:Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory, processing speed, emotional and behavioral functioning, ataxia, and other neuropsychological and neurological performance indices in children and adults genetically diagnosed with G1D receiving a regular diet at enrollment.
Rotator cuff disease (i.e., rotator cuff tendinopathy or tear) is a common cause of shoulder pain in persons with chronic spinal cord injury (SCI). It usually resolves with non-operative treatments such as pharmacological agents and physical therapy; however, when this fails, rotator cuff surgery may be the only option. Autologous adipose tissue injection has recently emerged as a promising new treatment for joint pain and soft tissue injury. Adipose can be used to provide cushioning and filling of structural defects and has been shown to have an abundance of bioactive elements and regenerative perivascular cells (pericytes). The purpose of this study is to explore the safety and efficacy of autologous, micro-fragmented adipose tissue (Lipogems®) injection under ultrasound guidance for chronic shoulder pain in persons with SCI.
Adrenocortical Carcinoma (ACC) is an extremely rare disease. Approximately 50% of ACC in adults are functioning leading to hormonal and metabolic syndromes. Cortisol hypersecretion (Cushing's syndrome) is the most common endocrine derangement at presentation. Moreover, hypercortisolism is one of the factors that negatively influence the outcome of patients with metastatic ACC. Abiraterone acetate (AA) is a prodrug of abiraterone, an irreversible inhibitor of 17α hydroxylase/C17, 20-lyase (cytochrome P450c17 [CYP17]).The inhibition of CYP17A1 blocks androgen and cortisol synthesis. AA has a pharmacodynamic potential to reduce cortisol excess and it has never been tested before in Cushing's syndrome. Thus, we decided to evaluate the activity of Abiraterone Acetate in the management of Cushing's syndrome in patients with adrenocortical carcinoma. The study is a phase II, non-randomized, open-label study with two different experimental sub-cohorts: Cohort 1: Patients locally advanced/metastatic ACC patients with uncontrolled Cushing's syndrome despite Mitotane +/- chemotherapy will be treated with single agent AA. In this cohort, Mitotane and chemotherapy will be interrupted and AA will be continued till progression and/or as long as the Cushing's syndrome is adequately controlled (ie until progression of Cushing's syndrome). Cohort 2: Mitotane-naïve patients with newly diagnosis of ACC associated with Cushing's syndrome not amenable to surgical resection with radical intent will be treated with single agent AA for 4 weeks followed by AA + Mitotane +/- first-line chemotherapy. In this cohort, AA in association with Mitotane will be administered for 3 months. If the primary endpoint is obtained before 1 month (i.e. 2 or 3 weeks from Abiraterone start), then Mitotane +/- chemotherapy can be started upon the clinician's decision.
The OPTICO-ACS- study program - combining for the first time in vivo characterization of the ACS-causing "culprit lesion" by intracoronary imaging technique with optical coherence tomography (OCT) and molecular analysis of immune-cells derived from the culprit coronary thrombus and biochemical analyses in patients with acute-coronary-syndrome (ACS).
Irritable bowel syndrome (IBS) is a common functional bowel disorder of the gastrointestinal tract affecting up to 20 percent of the adolescent and adult populations. It is characterised by abdominal pain, irregular bowel habits, altered stool consistencies and bloating, and is associated with impaired quality of life. IBS can be categorised into diarrhoea predominant type (IBS-D), constipation predominant type (IBS-C), and mixed type (IBS-M). Fecal microbiota transplantation (FMT) defined as infusion of feces from healthy donors to affected subjects has shown impressive results with high cure rates in patients with recurrent clostridium difficile infections. The investigators propose a randomised, placebo-controlled trial of FMT in patients with IBS.
This phase II trial studies the side effects of azacitidine and pembrolizumab and to see how well they work in treating patients with myelodysplastic syndrome. Azacitidine may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Immunotherapy with monoclonal antibodies, such as pembrolizumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Giving azacitidine and pembrolizumab may work better at treating myelodysplastic syndrome.
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), , and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports these diagnoses. Subjects' peripheral vein blood and saliva will be taken. No clinical intervention/randomizations will be performed. No patients' identifiers will be reported. In this pilot study genomic DNA will be extracted and will be used for genotyping as sequencing in 30 EDS patients and their 30 relatives with or without EDS to compare genetic variations between them. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS. After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample. The purpose is that if they are comparable, we will be able to use saliva in place of blood as it easier method for accessing a person's DNA. This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn. NOTE: Results of this study will not be disclosed to subjects.
This randomized phase II/III trial studies how well azacitidine with or without nivolumab or midostaurin, or decitabine and cytarabine alone work in treating older patients with newly diagnosed acute myeloid leukemia or high-risk myelodysplastic syndrome. Drugs used in chemotherapy, such as azacitidine, decitabine, and cytarabine, work in different ways to stop the growth of cancer cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Immunotherapy with monoclonal antibodies, such as nivolumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Midostaurin may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth. Giving azacitidine with or without nivolumab or midostaurin, or decitabine and cytarabine alone may kill more cancer cells.
Hepatopulmonary Syndrome is a respiratory complication of liver cirrhosis defined as a triad: hypoxemia (PaO2 < 80 mmHg in room air), chronic liver disease and intrapulmonary vasodilatations. Its prevalence varies between 4 and 32%. Numerous treatments have been tried but the only efficient therapy to cure the syndrome is liver transplantation. Without transplantation it is associated with a higher mortality which is the reason why hepatopulmonary syndrome patients have a higher priority to transplantation. However it appears in some restricted studies that hepatopulmonary syndrome is associated with more postoperative complications (infections, vascular and biliary complications, prolonged length of mechanical ventilation…). The investigators hypothesised that hepatopulmonary syndrome patients have more postoperative complications after liver transplantation than non hepatopulmonary syndrome patients matched on age, MELD (Model for End-Stage Liver Disease) score, comorbidities, perioperative transfusion and noradrenaline doses.
The main objective of this work is to conduct a clinical study for the development and application of a vaccine with autologous dendritic cells submitted to electroporation with Wilm's tumor 1 (WT1) messenger ribonucleic acid (mRNA), as an adjuvant treatment of high-risk Myelodysplastic Syndromes and Acute Myeloid Leukemia, aiming to delay the progression of the disease or its relapse and increase overall and event-free survival.