View clinical trials related to Down Syndrome.
Filter by:The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
The purpose of this research study is to learn if the medication Memantine Hydrochloride (the study medication) can help adolescents and young adults with Down syndrome. Dr. Alberto Costa and his research team want to see if a 16-week treatment with this medication can improve the participant's ability to learn and remember things. In this study, memantine hydrochloride will be used. Thus, the researchers want to learn whether the study drug can help improve memory in young adults with Down syndrome. To test the effect of the study medicine, half of the people in the study will receive the study medicine and half will receive a placebo (an inactive substance). Memantine is an approved medication to treat memory and thinking problems in persons with Alzheimer disease. However, little is known about the effect of this medication in persons with Down syndrome and it has not been approved for use in persons with Down syndrome.
About 1 in every 700 babies born in the United States has Down's Syndrome (DS; Trisomy 21), 99% of whom have some degree of intellectual disability. Recent advances in medicine have resulted in a dramatically improved lifespan of about 25 to 60 years of age. Yet, there is limited data about anesthetic management in this increasing patient population. The bispectral index (BIS) monitor is a non-invasive monitoring device that reports a value between 0 and 100correlating to level of consciousness of an individual. A value of 0 indicates lack of brain activity while 100 indicates an awake/alert state. This monitor can be used to assess the depth of anesthesia. Patients with intellectual disability from congenital neurological diseases have lower BIS values compared to patients without any neurological impairment (Valkenburg 2009). The results may suggest that DS patients would require less anesthetic drugs compared to patients without any neurological impairment. To date, there are no studies in DS patients.
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than other currently available screening tests. This will result in fewer unnecessary amniocenteses and Chorionic Villus Sample (CVS) procedures, which are associated with a risk of miscarriage.
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.
Visual acuity at near improves in children with Down syndrome using bifocals
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from women pregnant with a multiple gestation who were at increased risk for fetal aneuploidy.
This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.
Children with Down syndrome (DS) have greater difficulty acquiring expressive language than is predicted by their general cognitive abilities and language comprehension (Miller, 1999). To date, interventions to improve communication outcomes for children with DS have met with only modest success. The proposed study is a randomized controlled trial of an early communication intervention combining two evidence-based treatments that teach expressive communication (Enhanced Milieu Teaching; EMT) and joint attention/symbolic play (Joint Attention Symbolic Play Engagement and Regulation; JASPER) using a dual mode (words +AAC). The intervention (a) teaches the foundations of communication (joint attention, play), (b) builds on positive child characteristics of social attention, (c) uses naturalistic strategies to increase the rate and complexity of communication and increase task engagement, (d) addresses the potential value of adding visual support (AAC) to spoken communication, and (e) includes parents as implementers of the intervention to promote generalization across settings and activities, and to ensure maintenance over time. It is hypothesized that children with DS enrolled in the intervention will have better language and communication skills at the end of treatment and followup than children in the BAU comparison group.The study will enroll 82 30 to 54 month old children with DS who have fewer than 20 words. Examining predictors of response to treatment and the effects of treatment on executive functioning will inform both theory and practice.
Non-randomized natural history study involving 12 subjects with Down Syndrome, who are aged 30-60 years old. This study will observe 3 different groups: four non-demented subjects between ages 30-40 years old, four non-demented subjects between ages 40-50 years old, and four demented subjects 50-60 years old. Currently available longitudinal data in DS suggest a high rate of transition to dementia from the late 40s through the early 50s of these individuals. This, together with the universal presence of plaques in DS by their mid 40s makes this age range ideal for studying the development of AD.