Active clinical trials for "Down Syndrome"

To evaluate the outcome of a prednisolone and low dose methotrexate based protocol in Down syndrome children with ALL (DS-ALL) in an Asia-wide study. The treatment protocol was modified based upon backbone of Taiwan Pediatric Oncology Group (TPOG)-ALL protocol in which risk classification will be guided by level of flow minimal residual disease (MRD) instead.

This is an open-label study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with Down syndrome and obstructive sleep apnea (OSA) documented by polysomnography (PSG). Participants will receive ato-oxy for 6 months. Ato-oxy dose will be 5 mg oxybutynin and 0.5mg/kg/day (max 40 mg) atomoxetine. Dosing of the study treatment will occur approximately 30 minutes prior to bedtime. Participants who withdraw from the study will not be replaced. Study participants will undergo eligibility screening that will include an initial screening to determine whether non- PSG enrollment criteria are met, followed by a 1 night in-lab PSG and health-related quality of life (HRQOL) and cognitive assessment for participants who qualify based on non-PSG criteria. For participants who are eligible and enroll in the study, the screening PSG night will serve as the baseline measure for apnea hypopnea index (AHI) and other PSG endpoints. On the final night of dosing for ato-oxy participants will return for inpatient PSG and health-related quality of life assessment and cognitive assessment. The primary efficacy endpoint is the change in obstructive AHI from baseline.

AEF0217-102 clinical trial assesses the safety, tolerability, plasma exposure and preliminary indications of pharmacodynamic activity of AEF0217 in female and male adult participants with Down syndrome between 18 and 35 years old. The trial AEF0217-102 is a double-blind, randomized, placebo-controlled, multiple-dose, 4-week phase 1/2 study. After a screening period, the participant will be randomised and will take an oral dose of AEF0217 0.2mg or placebo once a day for 28 days.

The study will be conducted to determine the effect of aerobic training on sleep problems and pulmonary functions in children with Down syndrome.

The researchers are investigating if the Self-Supporting Nasopharyngeal Airway (ssNPA) device can be used in the treatment of obstructive sleep apnea in children with Hypotonic Upper Airway Obstruction (HUAO).

Down syndrome (DS) is a chromosomal condition that occurs in approximately 1 in 800 births worldwide, and causes impairments in physical function, including a reduced work capacity (as measured by VO2peak or aerobic capacity). Work capacity is important for activities of daily living, in order to live longer, healthier lives. Reduced work capacity stems in large part from autonomic dysfunction, which has been described in individuals with DS. Individuals with DS experience reduced sympathetic and parasympathetic control, which results in alterations in resting heart rate, blood pressure, and attenuated responses to sympathoexcitatory stimuli. Autonomic dysfunction may impair the ability to regulate blood flow and blood pressure to working muscles during exercise, which may cause a mismatch between oxygen supply and demand, further compromising the already reduced work capacity observed in individuals with DS. Utilization of a large muscle mass exercise, such as lower-limb dynamic exercise (similar to walking), requires a large shift in blood flow to match metabolic demand and allows the opportunity to evaluate blood flow regulation. Conversely, examination of the large changes in pressure in response to isometric exercise (i.e., a sustained contraction), allows for examination of the exercise pressor reflex as evoked by the isometric contraction. Thus, by comprehensively evaluating blood flow and blood pressure regulation, our work will further elucidate the mechanisms that underlay the reduced work capacity in individuals with DS. Improvement of overall work capacity for a population with reduced work capacity will guide future studies and exercise interventions aimed at helping to improve independence and quality of life, ultimately allowing individuals with DS to live longer, healthier lives. Aim 1 (Dynamic Exercise): To examine the effects of an acute bout of dynamic leg kicking at both relative and absolute intensity workloads on femoral blood flow to both exercising and non-exercising muscle, in individuals with and without DS. Aim 2 (Isometric Exercise): To examine the exercise pressor response to lower limb isometric exercise in individuals with and without DS.

The overall objective of this randomized clinical trial is to test the effectiveness of a personalized approach to the surgical treatment of OSA in children with Down syndrome (DS).The estimated prevalence of obstructive sleep apnea (OSA) in children with DS ranges from 45-83%, compared to 1-6% in the general pediatric population. Untreated OSA in children has been associated with daytime sleepiness, cognitive or behavioral problems, and cardiovascular complications, all which are common in children with DS. Adenotonsillectomy (AT) is the first line treatment for OSA in children, however, most large studies of AT outcomes have excluded children with DS. Available evidence demonstrates that AT is far less effective in children with DS than in the general pediatric population, with 48 to 95% of children with DS having persistent OSA after AT. Medical treatments such as positive airway pressure (PAP) therapy are frequently inadequate or poorly tolerated in this population, so many children with DS and OSA remain untreated. Drug-induced sleep endoscopy (DISE) enables direct observation of the sites and patterns of obstruction during sedated sleep using a flexible endoscope passed through the nose into the pharynx. DISE was developed to guide surgical decisions in adult OSA, and in recent years has also been used to design personalized surgical interventions in children. Using this DISE Rating Scale, the investigators have demonstrated that children with DS are more prone to tongue base and supraglottic obstruction than non-DS children, suggesting the need for more personalized surgical treatments that are tailored to the common sources of obstruction in this population. Several small case series demonstrate that DISE-directed surgery can be effective in treating OSA in children with DS. However, because there have been few prospective studies and no randomized trials comparing different treatment options in this population, there remains uncertainty about whether such a personalized approach leads to superior outcomes compared to the first line AT. It is the investigators' hypothesis that personalized DISE-directed surgery that uses existing procedures to address specific fixed and dynamic anatomic features causing obstruction in each child with DS will be superior to the current first line approach of AT. This novel approach may improve OSA outcomes and reduce the burden of unnecessary AT or secondary surgery for persistent OSA after an ineffective AT.

TriAL21 study is an interventional, open, one arm, prospective, national and single center study. A total of 200 patients with Down syndrome, aged 35 years and over, without diagnosis of Alzheimer's disease will be enrolled into the study. Participating centre is Institut Jérôme Lejeune; outpatient's clinic dedicated to treating patients with cognitive deficiencies of genetic origin including patients with Down syndrome.

This study aims to compare the rate at which oxygen uptake adapts to submaximal, moderate intensity exercise (oxygen uptake kinetics) between adults with and without Down syndrome, to determine the contribution of oxygen uptake kinetics to exercise intolerance of adults with Down syndrome. Additionally, the study will investigate the role of oxygen delivery (by the cardiovascular circuit) and oxygen utilization (in the mitochondria) on the oxygen uptake kinetics of adults with Down syndrome to identify specific areas which adults with Down syndrome could benefit from targeting during exercise training. Overall, this study aims to contribute to the knowledge on the exercise capacity of adults with Down syndrome, in order to improve the way adults with Down syndrome participate in and benefit from exercise. Participants will perform a maximal exercise test on a treadmill, and walk on a treadmill at a submaximal, moderate intensity speed and incline, during which oxygen uptake at the lungs, cardiac output, and oxygen utilization in the muscle will be measured.

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.