Active clinical trials for "Down Syndrome"

Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood. In recent years it has been shown that the risk assessment can be improved by combining in-depth ultrasound and cell-free DNA analysis from maternal blood. In their latest study, the investigators were able to detect all fetuses with trisomy 21, 18, and 13 through this procedure. No normal fetus displayed an increased risk. In contrast, the detection rate in classic, combined first-trimester screening is about 95% and the false-positive rate is 3-5%. In this study the investigator examine the test quality - especially the false positives - of cell-free DNA analysis on trisomy 21, 18 and 13 as well as on the microdeletion 22q in 1000 pregnancies.

Although over 200,000 individuals with DS live in the United States, studies to date have focused on outcomes apart from health. The foundation for this proposal is based on the need to accurately measure health of all individuals - specifically, with DS - and the dearth of available tools for this population. Creating such an instrument will provide a barometer of the current state of health for DS and hold use in future research. In this project, I propose to create an instrument that directly assesses health in DS - the Down syndrome Health Instrument (DHI). More specifically, the aims of this proposal are: 1. To conduct focus groups among caregivers, individuals with DS, panels of experts on DS and primary care physicians, and cognitive interviews to refine a conceptual model of health for DS and create an item pool, 2. To administer the DHI and establish internal validity, reliability, and external validity of the DHI for use in clinical research, and 3. To test the usability of the DHI in two pilot settings: research and clinical. This instrument will measure patient-reported health in DS for the first time and allow measurement of health as an outcome which is not currently possible in this population. This can identify gaps in care, then direct and optimize interventions that will improve care.

Children with Down syndrome (DS) often experience dangerously low heart rates on induction of anesthesia for routine procedures and this occurs at 10 times the rate of non-DS patients. Given that the cardiac output of children is heart rate dependent, bradycardia is especially perilous in this population. Historically, individuals with DS were not expected to survive beyond childhood; consequently, correction of congenital anomalies, e.g. cardiac defects, was not frequently offered. Fortunately, today individuals with DS live into adulthood and surgical correction of anomalies is universally offered. Thus, increasing numbers of children with DS are exposed to anesthesia and at risk for this hemodynamic catastrophe. It is medically unacceptable and an autonomic nervous system mechanism will be sought.

The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.

The goal of the study is to learn more about tests that can assess lung health in children with Down syndrome.

This study is a non-drug, multicenter, prospective cohort study. It will be conducted in 300 volunteers from 12 to 45 years of age (inclusive) with a diagnosis of Down syndrome from 3 countries (France, Spain, United Kingdom (UK)). The basic hypotheses of the study are the following: Diseases (and comorbidity) arise from one or more biological networks perturbed by the genetic disorder (trisomy 21) through interaction with environmental risks factors and epigenetic changes. Health comorbidity patterns in DS individuals (particularly of obesity and related conditions) will likely vary by age and sex. Obesity comorbidity patterns will relate to variation in factors including lifestyle, stress-response, severity of intellectual disability (ID) and variation in cognitive domains such as executive functioning. Stress responses, as measured with cortisol concentrations, will differentiate individuals with DS who are obese and those who are not. Extremes in phenotype (Obese vs. Non-obese) will be related to differences in the metabolomic, transcriptomic, and microbiome concentrations.

The risk of severe course of SARS-CoV-2 infection in people with Down Syndrome is substantially increased. The risk of death is 3-10 fold higher than in healthy people. SARS-CoV-2 vaccines have been registered for adults and adolescents but none of them have been studied in people with Down Syndrome. Vaccine responses in people with Down Syndrome are known to be suboptimal. Therefor the objective of this study is to assess the immunogenicity of SARS-CoV-2 vaccination in people with Down syndrome. To do so, the antibody response, cellulair and mucosal immuneresponse in people with Down syndrome after the SARS-CoV-2 vaccination will be evaluated and compared to healthy controls.

According to data from French congenital malformation registries, the prevalence of Down Syndrome (DS) in 2017 (live births and medical termination of pregnancy (MToP)) in Reunion Island was the lowest in France (23.04 per 10,000 births), notably in relation to a young maternal age. However, if we look at live births, Reunion Island has the highest prevalence of DS in France (12.24 vs. 5.81 per 10,000 births), despite a well organized prenatal diagnosis (PND). In fact, the use of MToP in this context is the lowest in France (10.8 vs 26.3 per 10 000 births). Local specificities may have an impact on the choice of patients to undergo or not undergo a MToP in the context of PND of DS and explain why the rate of recourse to MToP is the lowest in France. To date, no qualitative study exploring the reasons why women and their partners do not undergo a MToP in the context of DS has been conducted in Reunion Island. Thus, the main hypothesis is that the low recourse to MToP following PND of DS in Reunion Island could be explained by the beliefs, values or choices of Reunion Island women and their partners during pregnancy in relation to a specific family, socio-cultural and economic context.

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

The goal of the Speech Accessibility Project at the UIUC Beckman Institute (https://speechaccessibilityproject.beckman.illinois.edu) is to collect, annotate, and curate a shared database of speech samples from people with atypical speech, and share this data set with researchers at other organizations. This two-year project plans to collect 1,200,000 speech samples from 2,000 people, each of whom will provide 600 samples. In Year 1, the initial focus will be people with Parkinson's. In Year 2, four more etiologies of interest will be recruited: Amyotrophic Lateral Sclerosis (ALS), Cerebral Palsy (CP), Down Syndrome (DS), and Stroke. UIUC will build an open-source software infrastructure to collect annotated speech samples and share these data in an appropriately secure fashion with researchers from our partner technology companies (and eventually, other organizations as well) so that they can use these data to improve their automatic speech recognition algorithms. This project promotes diversity, equity, and inclusion by helping technology companies to fully support all types of speech, and it is also more efficient and less burdensome for these specialized patient populations to have one centralized "collector" of speech samples.