View clinical trials related to Syndrome.
Filter by:Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.
Down syndrome (DS) is a genetic condition that compromises physical and cognitive function. Motor development delays define DS. Additionally, there are executive function issues. Humans need dual-task activities to execute physical and cognitive tasks simultaneously. Cognitively challenged people may struggle to do dual tasks simultaneously. This shows that executive function modulation may boost motor function. Rehabilitation should include motor training and cognitive therapy to improve function. Dual-task training called exergaming combines video games with exercise and requires brain processing, decision-making, and problem-solving. Kids enjoy therapy and exercise using interactive exergames, improving adherence and results. Mental agility can be developed through simultaneous exercise. Exergaming improves balance, functional mobility, fitness, and well-being for DS youngsters. Most literature on DS children stresses physical ability over cognitive ability. Cognitive-Motor Dual-Task Exercise Program (CMDT) works in most therapy settings without equipment. Our study compares two dual-task intervention regimens for 8-14-year-old DS children's balance, functional mobility, and EF.
The goal of this cross-sectional study is to investigate the influencing factors of body image in women of reproductive age. The main question[s] it aims to answer are: - Is there a connection between physical activity, body mass index and body image? - Is there a connection between body image, premenstrual syndrome and sleep quality? Participants will fill out a complex online questionnaire.
Study GLB-001-01 is a first-in-human (FIH), Phase 1, open-label, dose escalation and expansion clinical study of GLB-001 in participants with relapsed or refractory acute myeloid leukemia (R/R AML) or in participants with relapsed or refractory higher-risk myelodysplastic syndromes (R/R HR-MDS). The dose escalation part (Phase 1a) of the study will evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and preliminary efficacy of GLB-001 administered orally. Approximately 24 participants (up to 42 participants) may be enrolled in Phase 1a of the study. The dose expansion part (Phase 1b) will be followed to understand the relationships among dose, exposure, toxicity, tolerability and clinical activity, to identify minimally active dose, and to select the recommended dose(s) for phase 2 study. Up to 24 participants (12 participants per dose level) may be enrolled in Phase 1b of the study.
Behçet's syndrome is a multisystem variable vessel vasculitis. Clinical features include mucocutaneous manifestions such as oral ulcers, genital ulcers, papulopustular lesions and nodular lesions, musculoskeletal manifestations, uveitis, venous thrombosis, arterial aneurysms and thrombosis, central nervous system involvement and gastrointestinal involvement. Management of Behçet's syndrome depends on the type of organ involvement, disease severity, and prognostic factors. The main objective in patients with major organ involvement is to rapidly suppress the inflammation and prevent relapses in order to prevent organ damage. On the other hand, mucocutaneous and musculoskeletal manifestations do not cause damage and in patients with only mucocutaneous and joint involvement, the aim is to improve the quality of life. Colchicine is usually the first-line systemic treatment in patients with only mucocutaneous and joint involvement. Conflicting results were reported on the efficacy of colchicine on different mucocutaneous manifestations in randomized placebo-controlled trials. The relapsing and remitting nature of these manifestations in Behçet's syndrome may cause challenges in disease assessment during clinical trials. Another approach to evaluate the effectiveness of a medication is to evaluate whether the lesions recur or increase after discontinuation of the drug. The aim of this study is to assess mucocutaneous disease activity among Behçet's syndrome patients after discontinuation of colchicine treatment and compare it to patients who continue to use colchicine.
In the planned efficacy study, a prospective randomized controlled trial will be conducted to investigate the extent to which a multimodal stress reduction and lifestyle modification program can be reflected in patients with irritable bowel syndrome (IBS) within the framework of a clinical study. For this purpose, 118 patients with IBS will be enrolled in a clinical study. The intervention group will participate in a partial outpatient multimodal stress reduction and lifestyle modification program over 10 weeks, while the waitlist control group will only receive an educational session and written information on treatment and self-help options. The primary research question encompasses the examination of the program's impact on the severity of symptoms associated with irritable bowel syndrome (measured with the IBS-Symptom Severity Scale [IBS-SSS]) and additionally its influence on quality of life, stress, and mental well-being. Another aspect of the study is the utilization of medical services (e.g., comparing the number of doctor visits; intake of prescribed and over-the-counter medications). Additionally, a comparison of days of work disability will be conducted.
The goal of the VNS4PWS clinical study is to test the efficacy, safety, and acceptability of transcutaneous vagus nerve stimulation (tVNS) treatment in people with PWS.
The study Objective is to collect samples of bone marrow aspirates and peripheral blood of patients with MDS for use in non-clinical research to investigate mitochondrial function sequence and effect of mitochondrial augmentation.
Mandala practice will be applied to women with premenstrual syndrome. The intervention group (Mandala practice group) and the control group each consisted of 60 women.
This trial will study the safety and efficacy of cultured allogeneic adult umbilical cord derived mesenchymal stem cells delivered intravenously for the treatment of Polycystic Ovary Syndrome.