Down Syndrome

Researchers are exploring and comparing how patients perceive sounds after receiving either cochlear implants or gene therapy for congenital deafness. This study aims to understand differences in speech perception in various environments, music appreciation, and directional hearing between these two treatments. By assessing cognitive and psychological factors alongside auditory development, the study hopes to inform better rehabilitation plans for gene therapy patients. The study includes two groups of congenital deafness patients those who have cochlear implants and those who have undergone gene therapy for autosomal recessive deafness 9 DFNB9. Patients receive standard postoperative care and follow-up. The evaluation covers multiple aspects such as speech perception in quiet and noisy settings, cognitive function, psychological status, and auditory cortex growth over time. Participants will be assessed before treatment and at weeks 13, 26, and 52 after intervention. Evaluations include tests of auditory speech perception, cognitive abilities, psychological health, and brain development related to hearing. The study requires participants and their guardians to provide informed consent and cooperate with follow-up visits. Healthy individuals with normal hearing are also included as controls. The goal is to compare outcomes between the two treatments over one year.

Adults with intellectual disabilities often face challenges in social situations due to difficulties in processing social information, especially in recognizing facial emotions. This research evaluates a cognitive remediation program called Re9habilitus, designed to improve attentional and visuospatial functions to reduce behavioral disorders in adults with intellectual disabilities who do not have autism spectrum disorder. The study aims to validate whether this program can help address specific cognitive and behavioral issues in daily life for this population. Participants are randomly assigned to either the Re9habilitus cognitive remediation program, which focuses on improving attention and spatial perception related to social behavior, or to a control group engaging in manual activities and computer-based research tasks. The study compares these two approaches to assess their effects on behavioral disorders and cognitive functions. During the study, participants are assessed on changes in hyperactivity and non-compliance behaviors using the Aberrant Behavior Checklist scale over six months. Researchers also measure improvements in facial emotion recognition and attentional functions at the start, end, and six months after the intervention. The total participation time and safety monitoring details are aligned with the evaluation periods, ensuring thorough follow-up to observe lasting effects.

Researchers are evaluating the safety and effectiveness of a liposomal mitoxantrone combination regimen in treating relapsed and refractory solid tumors in children, adolescents, and young adults aged 6 to 24 years. This prospective, single-arm, multicenter clinical study aims to improve the objective response rate compared to historical data and to assess related side effects. The study focuses on specific tumor types including bone and soft tissue tumors and neuroblastoma among others. Participants will receive a treatment regimen combining mitoxantrone liposome, capecitabine, and anlotinib over 4 to 6 cycles, each lasting 21 days. Capecitabine is given twice daily on days 1 to 14, while anlotinib dosage is adjusted based on body weight and administered for 14 days per cycle. Those showing partial response or better may receive additional local treatments such as surgery or radiotherapy. During the study, participants will have regular checkups and tests to monitor tumor status, blood parameters, and other relevant health indicators. The main measurement is the objective response rate after up to 6 treatment cycles. Other outcomes include disease control rate, progression-free survival, overall survival, and safety monitoring for up to one year after treatment. The total observation period includes follow-up assessments to evaluate lasting effects and adverse events.

Researchers are evaluating the combination of nivolumab and blinatumomab compared to blinatumomab alone in children and young adults aged 1 to under 31 years with first relapse of CD19 B-cell acute lymphoblastic leukemia B-ALL, including patients with Down syndrome. This phase II trial aims to compare event-free survival after reinduction and consolidation therapy, assess safety and tolerability, and explore various outcomes such as remission rates and toxicity, with follow-up up to 10 years after enrollment. Participants receive treatments based on their assigned groups and arms, involving cycles of immunotherapy including blinatumomab, nivolumab, dexamethasone, methotrexate, and other chemotherapy drugs given by various routes such as intravenous infusion, intrathecal injection, and oral administration. Treatment cycles repeat every 36 or 37 days for up to two cycles, with some groups receiving radiation therapy or maintenance chemotherapy afterward. Patients with high white blood cell counts or specific disease locations may receive pre-immunotherapy treatments. Throughout the study, participants undergo lumbar punctures, bone marrow biopsies and aspirations, and collection of blood, urine, and cerebrospinal fluid for monitoring. Researchers measure outcomes such as minimal residual disease negative remission rates and event-free survival. After completing treatment, participants are followed every three months for one year to monitor their health and any long-term treatment effects.

Researchers are studying children and young adults aged 1 to 18 years with chronic kidney disease CKD and proteinuria, a condition where the kidneys leak protein into the urine. This study aims to evaluate the long-term safety of finerenone when added to standard treatments called ACE inhibitors or angiotensin receptor blockers ARBs, which are commonly used to control blood pressure and protect kidney function. The research also seeks to understand how well finerenone can reduce protein levels in urine and support kidney health over time. Participants will receive finerenone in doses adjusted by age and body weight, taken orally for up to 18 months alongside their usual ACEI or ARB treatment. The study includes patients who previously took part in a related trial and will follow them for about 19 months, including a one-month follow-up after treatment ends. The research involves one group receiving finerenone openly without placebo or comparison groups. During the study, participants will attend at least 8 to 12 visits depending on their treatment start status. At these visits, doctors will measure vital signs like blood pressure, heart rate, weight, and height perform physical exams collect blood and urine samples to monitor kidney function and protein levels and conduct heart tests using electrocardiograms and echocardiography. Participants and their caregivers will also answer questions about medication use, side effects, and overall well-being. Safety will be closely monitored by tracking any medical problems that arise during the trial.

Researchers are studying the health of people with Down syndrome who have been treated for acute leukemia. Children with Down syndrome face higher risks of side effects during leukemia treatment, but its unclear how this affects their long-term health. The study aims to understand chronic health conditions and other lasting effects after leukemia treatment in this group to help improve their quality of life and develop better care guidelines. Participants may provide saliva or buccal swab samples, undergo clinical assessments, and, if they have Down syndrome-associated acute lymphoblastic leukemia, may also give blood samples and complete neurocognitive tests. These evaluations are done in parts, including biospecimen collection, clinical evaluation, and neurocognitive assessment. During the study, participants will be assessed for chronic health conditions, neuropsychological outcomes reported by parents, health-related quality of life, and clinical risk factors. Researchers will also create a detailed group of survivors and a biobank for future research. The main outcome measured is the prevalence, type, and severity of chronic health conditions. The study will continue until June 2029, with ongoing assessments and data collection.

Maternal and infant health is a key indicator of overall population health, facing new challenges due to rapid socioeconomic changes and environmental issues. This research focuses on understanding the causes of reproductive and pregnancy-related diseases, birth defects, and childhood illnesses by studying families from pregnancy through early life. The goal is to identify genetic, environmental, and behavioral risk factors that affect embryonic development, fetal health, and infant well-being. The project involves recruiting families expecting a child or with newborns and collecting biological samples such as blood, urine, and vaginal secretions at multiple points in time. These samples undergo multi-omics testing, including whole-genome sequencing, metabolite analysis, DNA methylation, protein expression, and microbiome sequencing. Data and clinical information are securely stored and carefully reviewed to ensure ethical, legal, and scientific standards. Participants will sign consent forms, complete questionnaires, and provide biological samples during the study. Researchers will analyze whole-genome sequencing and other molecular data about one year after sample collection to identify biomarkers and develop predictive models for reproductive and developmental diseases. The study includes long-term follow-ups on families to better understand early life risk factors and support prevention strategies for genetic diseases.

Researchers are evaluating acupuncture as a treatment for children aged 6 to 12 years with Attention Deficit Hyperactivity Disorder ADHD. The study uses a mixed-methods approach combining data mining of acupuncture points, quantitative assessments of treatment outcomes, and qualitative interviews to explore patient experiences. The goal is to understand acupunctures potential benefits alongside traditional Chinese herbal medicine for managing ADHD symptoms. Participants will be assigned to one of two groups one receiving acupuncture combined with traditional Chinese herbal treatment, and the other receiving herbal treatment alone. Acupuncture involves the use of fine needles inserted with specific techniques guided by acupoint data mining. Treatments and assessments occur over an 8-week period, focusing on symptom changes and quality of life. Throughout the study, children will undergo various evaluations including standardized ADHD symptom rating scales such as SNAP-IV, Conners 3-P, and BRIEF-2, as well as quality of life and sleep quality measures. Qualitative interviews with children, parents, and clinicians will provide insights into treatment satisfaction and perceived changes. The study spans approximately 12 months from start to finish, including follow-up assessments to monitor outcomes and safety.

Researchers are studying inherited and acquired retinal disorders to better understand changes in photoreceptors, retinal pigment epithelium, and retinal blood vessels. This observational study uses adaptive optics AO technology to visualize retinal structures in living patients and compare them to healthy controls. The study aims to evaluate the effects of various treatments and develop AO imaging as a measure of outcomes in retinal diseases. The study plans to enroll about 200 participants including approximately 175 with retinal diseases and 25 healthy controls. Participants will undergo AO retinal imaging using the rtx1 device, which is non-invasive and uses infrared light to capture high-resolution images of the retina. The imaging will be done at baseline, then repeated at 6 months and 1 year to observe any changes or effects of treatment. Participants will provide medical and family history and have their retinal images taken at scheduled visits. The study measures include quantifying cone photoreceptor density and spacing, retinal pigment epithelium density, and retinal blood flow using software within the AO device. Follow-up imaging compares changes over time to assess disease progression or treatment impact. The total participation includes baseline and two follow-up visits over one year.

Down syndrome is a genetic condition caused by an extra copy of chromosome 21, affecting about 1 in 800 newborns worldwide. This research aims to compare the effects of aerobic exercise alone versus aerobic exercise combined with a low calorie diet on reducing body fat and improving body mass index BMI in overweight and obese children with Down syndrome. The study focuses on children aged 8 to 16 years who have a BMI at or above the 85th percentile, representing overweight or obesity status. The trial includes two groups one group will participate in aerobic exercise combined with a low calorie diet following an intermittent fasting plan, while the other group will do aerobic exercise without any specific diet changes. The aerobic exercise involves warm-up and cool-down sessions, with the diet consisting of fasting periods increasing over 12 weeks. The study is randomized and conducted over a total duration of 10 months, with a sample size of 22 participants. Participants will be assessed using a digital weight scale and BMI calculator at the start and at 12 weeks. Additional evaluations include waist circumference, aerobic fitness via a 6-minute walk test, skin-fold measurements, perceived exertion scales, and food frequency questionnaires. The study monitors changes in adiposity and BMI to provide insights into the best approach for weight management in children with Down syndrome. Data will be analyzed using SPSS software, and all participants will be supervised closely throughout the trial.