Active clinical trials for "Syndrome"

Polycystic Ovary Syndrome (PCOS) is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovaries. Insulin resistance (IR) is a common feature of PCOS, and the resultant hyperinsulinemia is theorized to promote hyperandrogenism in the disorder. However, 30-50% of women with PCOS who are lean do not have insulin resistance. Women with PCOS also exhibit chronic low-grade inflammation. In PCOS, glucose ingestion activates nuclear factor ĸB (NFĸB), the cardinal signal of inflammation culminating in upregulation of the inflammation pathway within mononuclear cells (MNC). This phenomenon is independent of excess adiposity and is highly correlated with circulating androgens. In addition, in vitro exposure to proinflammatory stimuli is capable of directly stimulating ovarian theca cell androgen production. Nonacetylated salicylates suppress NFĸB activation and are well tolerated in humans. The proposed research is a randomized double-blind placebo-controlled study of 90 women with PCOS. Forty-five subjects with PCOS (15 lean without IR), 15 lean with IR and 15 obese) receiving salsalate, a nonacetylated salicylate, at an oral dose of 3-4 gm daily for 12 weeks will be compared with 45 age- and body-composition-matched control women with PCOS receiving placebo. The overarching hypothesis is that inflammation contributes to ovarian dysfunction, independent of excess adiposity or IR. The specific aims are, I: To examine the effect of salsalate administration on the ovarian capacity to secrete androgen and on insulin sensitivity in PCOS. II: To examine the effect of salsalate administration on the inflammatory response of mononuclear cells induced by lipid ingestion and glucose infusion in PCOS. The approach involves evaluation of ovarian androgen secretion in response to human chorionic gonadotropin (HCG) administration and insulin sensitivity during the euglycemic phase of a two-step pancreatic clamp along with ovulation monitoring before and after salsalate administration. The inflammatory response of MNC to lipid ingestion and the hyperglycemic phase of the two-step clamp will also be evaluated during treatment by measuring reactive oxygen species, the mRNA and protein content of inflammation markers, NFĸB activation and cytokine release in culture. The investigators expect that women with PCOS receiving salsalate will exhibit decreased ovarian androgen secretion and reduced inflammation regardless of adiposity or IR status. These results will be significant if they show a causal contribution of inflammation to ovarian dysfunction in PCOS, thus improving our understanding of the pathogenesis of PCOS, opening previously unexplored therapeutic avenues that are not necessarily dependent on improving IR, and guiding the design of future studies aimed at determining what interventions will optimally attenuate inflammation in PCOS to reduce medical disease and enhance fertility.

The goal of this clinical trial is to test in people with down syndrome how does the INTORUS tool influence their psychomotor development. The main question it aims to answer is: - Does the INTORUS tool improve psychomotor development in people with Down Syndrome? The intervention program will be carried out during the Functional Habilitation sessions and will be carried out by the center's professionals. These sessions must be carried out in a quiet environment, without distractions so that the user can concentrate on carrying out the activities. It is important that the user attends the sessions in comfortable, sleeveless clothing, to allow the tool to slide smoothly through their upper limbs. Each session will consist of several exercises with their corresponding rest breaks described in the Intervention Protocol. Each session attendance will be recorded following an attendance record model created for the occasion. Participants will be divided into two groups randomly. The control group will receive an intervention treatment at the psychomotor level in the traditional way, following the protocols established in the center, and the intervention group will receive an intervention treatment at the psychomotor level with the INTORUS device. Randomization will be carried out using the Oxford Minimization and Randomization software.

Background: Scoliosis is the most common orthopedic comorbidity in Rett syndrome (RTT), with a prevalence of 94% and a mean curve progression of 14-21° Cobb annually. A scoliosis prevention intervention based on daily activity programs was proposed for people with RTT within uncontrolled study designs. Aim: The current study aims to evaluate the effectiveness of a home-based activity program carried out during daily life to slow the progression of scoliosis in girls with RTT. Ethics: The proposal was approved by Ariel university IRB. All participants' parents will sign informed consent forms. Participants: Twenty Italian girls aged between six and 16 years with a genetically confirmed classic RTT and scoliosis at a severity level between 10° and 40° Cobb will be recruited and randomly divided into two groups (immediate intervention - Group 1; wait-list-intervention - Group 2). Both groups will follow the same 10-month intervention program, 10 months apart. Outcome measures: Participants' scoliosis Cobb's angle, motor functioning, and behavioral characteristics will be assessed three times. Procedure: Each participant will be evaluated three times: at T1, T2, and T3. Participants in the Group 1 will conduct the intervention for 10 months between T0 and T1. Group 2 will perform the intervention between T1 and T2. The interventions will comprise daily home-based activity programs carried out by participants' caregivers within everyday living environments. An expert therapist will remotely supervise each program through an ad hoc developed smartphone application. Specific strategies that will be implemented during the intervention will include the maintenance of asymmetrical postures that oppose the scoliosis curve during activities and exercises in sitting, standing, and walking positions (according to each participant's functional abilities). These strategies refer to a hypercorrective postural positioning of scoliosis. In addition, activities involving weight bearing on the lower limbs, such as walking and standing for at least two hours a day, will be encouraged, and passive stretching and spinal mobilization exercises will be conducted.

To evaluate the efficacy of the conditioning regimen with cyclophosphamide, fludarabine, and antithymocyte globulin (CyFluATG) for allogeneic hematopoietic cell transplantation (HCT) in patients with lower risk myelodysplastic syndrome (MDS). The efficacy of the treatment will be measured in terms of engraftment and non-relapse mortality (NRM).

The objective of this study is to assess the safety, tolerability, efficacy, and pharmacokinetics of adjunctive therapy of LP352 in adults and adolescents with developmental and epileptic encephalopathies.

<Part I - Phase I trial> The phase I clinical trial is to identify the MTD (Maximum Tolerated Dose) and DLT (Dose Limiting Toxicity) of CG200745 PPA. Initial dose of CG200745 PPA is 150 mg/m^2, and it will be extended to 225 mg/m^2, 300 mg/m^2 or it will be reduced to 75 mg/m^2 based on the results of the cohort of 3 to 6 subjects per dose level. Based on the 3+3 dose escalation study design, CG200745 PPA is to be administered according to the dose level. Each cohort consists of 3 or 6 subjects. <Part II - Phase II trial> In the phase II clinical trial, the subjects will be administered with the dose which is to be identified as a recommended dose based on the results of Phase I study. Each cycle consisted of 28 days, same as the phase I. The entire treatment period is 6 cycles and tumor assessment is to be evaluated at the end of every 2 cycles.

This phase III trial studies response-based chemotherapy in treating newly diagnosed acute myeloid leukemia or myelodysplastic syndrome in younger patients with Down syndrome. Drugs used in chemotherapy 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. Response-based chemotherapy separates patients into different risk groups and treats them according to how they respond to the first course of treatment (Induction I). Response-based treatment may be effective in treating acute myeloid leukemia or myelodysplastic syndrome in younger patients with Down syndrome while reducing the side effects.

This phase Ib trial studies the side effects and best dose of entinostat when given together with pembrolizumab in treating patients with myelodysplastic syndrome after deoxyribonucleic acid (DNA) methyltransferase inhibitor (DNMTi) therapy failure. Entinostat may stop the growth of cancer 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 entinostat together with pembrolizumab may work better in treating patients with myelodysplastic syndrome after DNMTi therapy failure.

The purpose of this study is to determine whether the combination of pevonedistat and azacitidine improves event-free survival (EFS) when compared with single-agent azacitidine. (An event is defined as death or transformation to AML in participants with MDS or CMML, whichever occurs first, and is defined as death in participants with low-blast AML).

The primary purpose of this study is to determine whether giving injections of anakinra is a safe and well tolerated treatment to give as an adjunct to standard prescribed treatment for patients who are admitted to the hospital with signs of severe inflammation (macrophage activation syndrome) that is potentially life-threatening. Anakinra is a commercially available product (Kineret™) approved for the treatment of rheumatoid arthritis; it is a replica of a naturally occurring protein called Il-1 receptor antagonist (IL-1ra), made by humans to inhibit and regulate the action of interleukin-1 (IL-1). IL-1 is a mediator of inflammation that when generated in excess amounts by immune system cells can result in severe dysfunction of multiple organs that can be life-threatening. The specific primary objectives of the study are to determine if giving anakinra results in no increased infection complications or mortality. Additional data will be collected to determine whether anakinra administration results in any other unanticipated side effects in this setting, and the effects of anakinra administration on inflammation markers, the overall dose of steroids required to treat the inflammation, and the length of hospital stay.