Active clinical trials for "Down Syndrome"

The goal of this observational study is to learn about the use of non-invasive ventilation for treatment of obstructive sleep apnoea syndrome in children with Down Syndrome. The main questions it aims to answer are: What is the impact of non-invasive ventilation on sleep behaviours and quality of life? What barriers are faced by children and their families in establishing tolerance to non-invasive ventilation? Participants will be asked to complete questionnaires before and after starting treatment. Researchers will compare this data with the results of sleep studies and non-invasive ventilator downloads recorded as part of standard medical care. A sub-group of up to 20 participants will be invited to take part in 45-60 minute interviews exploring expectations, experiences and barriers encountered during non-invasive ventilation therapy.

Down syndrome also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. There is no cure for Down syndrome. Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Those with Down syndrome nearly always have physical and intellectual disabilities. They also typically have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders. This study will determine effects of weight bearing exercises with and without Jaffery's core stability exercise training on dynamic balance and trunk muscles strength in children with Down syndrome. Randomized controlled study will be conducted in which data will be collected from children with down syndrome with calculated sample size of 18 which will randomly assigned into group A and group B. Group A would receive weight bearing exercises (I.e. standing on preferred foot, standing with close eyes, walking forward on a line using normal stride and heel to toe gait, stepping over response speed stick on balance beam ).Group B would receive weight bearing exercises along with the jaffrey's core stability exercises (I.e. contracting muscles, sitting on Swiss ball, Bridging, Squatting side lying bridge etc.).Frequency will be 5 sessions per week, of 1 hour and duration is of 5 months. Balance and trunk muscle strength will be pre assessed using pediatric balance scale and trunk control measurement scale respectively. The improvement will be measured with same tools. Data will be analyzed through SPSS 25.

This trial protocol is designed to evaluate primarily whether the use of sargramostim (recombinant human GM-CSF), administered five days per week for four consecutive weeks (20 treatment days), will be well tolerated by and safe for use in young adult participants with Down syndrome.

This study attempts to learn more about the health of persons with Down syndrome after treatment for acute leukemia. Children with Down syndrome are at increased risk for side effects during treatment for acute leukemia, but it is unclear of their risk for long-term effects of cancer treatment. By learning more about the factors that may contribute to chronic health conditions and long-term effects after treatment for leukemia in persons with Down syndrome, clinical practice guidelines for survivorship care can be developed to help improve their quality-of-life.

Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research participation by individuals with DS. Two advisory boards, composed of advocates, family members, clinicians, researchers, and other relevant parties, have been involved in the development of the registry materials. Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21) Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and health information from individuals with DS. Outcome measures: The purposes of DS-Connect (TM) are: To identify the various phenotypic manifestations of DS. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.

The investigators are assessing acceptability, appropriateness, and feasibility of the adapted GameSquad-DS intervention using validated scales alongside qualitative data among young adults with Down Syndrome. Specifically, the investigators will assess mins/wk of Ring-Fit Adventure played, attendance at 30 min. virtual health coaching sessions, semi-structured interviews, participant retention, and intervention safety measured as number of adverse events.

In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes. By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

This will be a prospective validation study of a sample of consecutive pediatric Down syndrome patients who are seen through the weekly Down syndrome clinic at OHSU/Doernbecher's. Questionnaires will be administered to approximately 5 new patients per month. Since this population has a higher prevalence of OSA than the general pediatric population, and OSA is a potentially modifiable determinant of quality of life, validated instruments are critical in assessing disease burden and response to treatment.

The study investigators are interested in learning more about how drugs, that are given to children by their health care provider, act in the bodies of children and young adults in hopes to find the most safe and effective dose for children. The primary objective of this study is to evaluate the PK of understudied drugs currently being administered to children per SOC as prescribed by their treating provider.