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 patients aged 1 to under 31 years with first relapse of CD19+ B-cell acute lymphoblastic leukemia (B-ALL), including those with Down syndrome. This phase II trial aims to compare event-free survival and remission rates, as well as assess safety and tolerability of these treatments in this patient group. Treatment involves several groups and arms with different combinations of drugs including dexamethasone, blinatumomab, nivolumab, methotrexate, and others. Some groups receive pre-immunotherapy treatments depending on disease characteristics. Treatment cycles last about 36 to 37 days and may repeat up to two cycles unless disease progression or unacceptable toxicity occurs. Radiation therapy and various chemotherapy regimens are also part of the treatment for certain patients. Participants undergo lumbar punctures, bone marrow biopsies and aspirations, and collections of blood, urine, and cerebrospinal fluid throughout the study. After treatment completion, they are followed up every 3 months for 1 year. The main results measured include minimal residual disease-negative remission rates and event-free survival. Safety, adverse events, and other clinical factors are closely monitored during and after treatment.

Researchers are investigating treatments for children aged 1 to 18 years with chronic kidney disease (CKD) and proteinuria, conditions where the kidneys do not function properly and leak protein into the urine. CKD can cause complications like high blood pressure, and treatments currently include ACE inhibitors (ACEI) or angiotensin receptor blockers (ARB) that help control blood pressure and protein levels. This study focuses on evaluating the safety and effects of adding finerenone to these standard treatments, aiming to better manage the overactive kidney system involved in these conditions. Participants will receive finerenone orally, adjusted by age and body weight, alongside their existing ACEI or ARB treatment. The study lasts about 19 months, with up to 18 months of finerenone treatment and a one-month follow-up. During this time, children who are new to finerenone will have at least 12 visits, while those already on finerenone will have at least 8 visits. At these visits, various health checks and sample collections will occur to monitor safety and kidney function. Throughout the study, researchers will regularly measure blood pressure, heart rate, temperature, height, and weight, and collect blood and urine samples to assess kidney function and protein levels. They will also perform heart tests using electrocardiograms and echocardiography. Participants and their guardians will answer questions about medication use and any medical problems experienced. Safety will be closely monitored by tracking any adverse events during the study and a health check will be done about 30 days after treatment ends.

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 it's 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.

This research aims to evaluate the potential benefits of acupuncture as a treatment for children aged 6 to 12 years with Attention Deficit Hyperactivity Disorder (ADHD). It compares acupuncture combined with traditional Chinese herbal treatment to herbal treatment alone, using a mixed-methods approach that includes data mining, treatment outcome assessments, and patient perspectives. The study seeks to provide a detailed understanding of acupuncture's role in managing ADHD symptoms, executive function, quality of life, and sleep quality. Participants will be assigned to either an experimental group receiving acupuncture alongside herbal medicine or a control group receiving only the herbal treatment based on Chinese Medicine clinical guidelines. Acupuncture treatments involve specific needles and techniques informed by prior data analysis of effective acupoints for ADHD. Herbal treatments follow established clinical guidelines for pediatric ADHD. The study includes three phases: acupoint data mining, clinical intervention with repeated assessments, and qualitative interviews with children, caregivers, and clinicians. During the 12-month study, children will undergo quantitative assessments such as the SNAP-IV, Conners 3-P, BRIEF-2, PedsQL 4.0, PSQI, and CGI at baseline, post-treatment, and follow-up points to measure ADHD symptoms and related impacts. Qualitative interviews will explore treatment experiences and satisfaction. Researchers will analyze changes in symptoms, executive function, quality of life, and sleep, combining statistical methods with thematic analysis. The study starts in October 2024 and is expected to complete by May 2026.

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.