View clinical trials related to Down Syndrome.
Filter by:This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down syndrome and healthy controls following single dose RG1662. Participants will receive a single dose of placebo before the imaging session (PET and MRI), and a single dose of RG1662 before the second imaging session.
This is a prospective, multi‐center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in 'all-risk' pregnancies.
On average, Down syndrome (DS) occurs once in every 700 live births and results in life-long disability and increased risk for comorbidities.1 Individuals with DS are also susceptible to secondary physical impairments and limitations as a result of complications associated with joint hypermobility, hypotonicity, and increased ligamentous laxity. Secondary impairments such as pes planus (flat feet), weakened muscles, bony abnormalities and arthritis may lead to painful joints and feet. Additionally, children with DS often manifest deviations in gait as a result of physical limitations imposed by orthopedic and muscular deficiencies that may lead to decreased postural stability. These secondary losses in function, which exacerbate disabilities, may be preventable with the use of appropriate early interventions aimed at correcting abnormal joint alignment. Research exploring effective physical therapy interventions for adults and children with DS is currently very limited. However, the use of orthotic devices to support lax ligaments and hypotonic muscles, which are common manifestations of DS, is one accepted method of intervention for children within this population. Orthoses are variable in structure and the degree of support provided to the foot and ankle also differ between foot orthoses (FOs) and supramalleolar orthoses (SMOs). Previous studies have supported the effectiveness of orthoses on improving ankle and foot alignment, as well as gait parameters. However, disagreement currently exists concerning which type of orthotic device is most beneficial for the population of children with DS. Children with DS express variable degrees of joint laxity and hypotonicity, as well as differences in the severity of specific alignment abnormalities such as excessive pronation or calcaneal eversion.6 Current literature is insufficient for explaining differences in the benefits provided by FOs and SMOs and the specific indications for their use in children with DS is unclear. Study Aims This study will demonstrate the differences in structural outcomes provided by FOs and SMOs and develop specific criterion for matching individuals of differing orthopedic impairments with the most beneficial orthotic device.
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.
The purpose of this study is to determine the safety and effectiveness of 2,000 international units of Vitamin E (alpha tocopherol)on cognitive function of aging persons with Down syndrome. It is a randomized, double-blind, placebo-controlled trial lasting 36 months. It is expected that Vitamin E will slow the deterioration in cognitive functions associated with Alzheimer disease.
This non-drug, longitudinal, multi-center, multi-national study will evaluate the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in individuals with Down Syndrome. Tests will be administered at clinic visits in Weeks 1, (4) and 24. The duration of the study for each individual will be between 24 and 27 weeks.
Evaluation of the following in very young children with Down syndrome: - the efficacy of systematic treatment with L-thyroxine at controlled doses (clinically and by ultrasensitive thyreostimulating hormone (TSH) assay), - the efficacy of systematic folinic acid treatment at a dose of 1 mg/kg/o.i.d, - any interaction between these two treatments.
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum screening (PAPP-A,free beta-hCG [β-hCG] or total hCG) and a nuchal translucency (NT) measurement (i.e. combined first trimester screening) in a general screened population. The performance characteristics of these two test modalities will be assessed relative to the clinical reference standard of genetic analysis of the fetus or phenotypic characterization and genetic analysis of the newborn.
RATIONALE: Studying samples of blood, tissue, and bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. PURPOSE: This research trial studies DNA samples from patients with Down syndrome and acute myeloid leukemia treated on COG-AAML0431 clinical trial.