Birth Defect

This research focuses on pregnant women whose unborn babies have been diagnosed with Congenital Diaphragmatic Hernia (CDH), a condition where a hole in the diaphragm allows organs to move into the chest. The study aims to use images taken during routine medical care to create 3D animations and models of the baby and the CDH. These models help parents understand the condition and assist surgeons in planning surgery after birth. The study involves using existing routine scans from pregnant women referred for fetal MRI without any additional intervention. Researchers will create detailed 3D visualizations from these images to better illustrate the size of the diaphragmatic hole and the position of the organs. The study includes patients from diagnosis through to the post-operative period after birth. Participants will be pregnant women attending a fetal medicine unit who have agreed to take part. Researchers will collect baseline information such as patient demographics. The study observes the use of 3D imaging to support clinical management and surgical planning. Participation involves no additional treatment, only the use of images already taken during standard prenatal care. The study is ongoing and will continue until June 2025.

Researchers are evaluating a new 10-minute cardiovascular magnetic resonance (CMR) imaging protocol designed to improve current CMR procedures for patients with various heart conditions, including coronary artery disease, cardiomyopathies, and other cardiac diseases. The study aims to develop a standardized, contrast-free imaging method that can be applied to about 70% of cardiac patients. The goal is to assess whether this shorter protocol enhances diagnostic decision-making and reduces healthcare costs. The study involves two groups: healthy volunteers over 18 years old without significant cardiovascular or respiratory conditions, and patients over 18 years who require a clinically indicated CMR exam. The new protocol focuses on heart function and tissue characterization without using contrast agents. Researchers will compare the new 10-minute protocol to standard CMR imaging, evaluating its clinical feasibility, performance, and cost-effectiveness in different patient populations. Participants will undergo CMR scans using both the new and standard protocols. Researchers will monitor diagnostic results, scan completion rates, scan sequence times, adverse events, and cost differences between methods. Various heart tissue measurements and reproducibility between different readers and scanners will also be assessed. The study spans from 2019 to 2025, with ongoing safety monitoring during imaging sequences and a focus on improving the efficiency and quality of cardiac imaging.

The trial investigates the biomechanical effects of the Ossur Power Knee, a microprocessor-controlled prosthetic knee with active motor-driven flexion and extension, compared to the Ossur Rheo XC, a passive microprocessor-controlled knee. The study focuses on unilateral transfemoral amputees aged 45 to 75 years, aiming to evaluate differences in walking and mobility, including a comparison by gender to identify any sex-specific prosthesis needs. The research is designed to improve understanding of prosthetic knee function and enhance prosthesis selection for users. Participants will be fitted with both the Ossur Power Knee and the Ossur Rheo XC in a crossover design, receiving one month of accommodation with each device before evaluation. The Power Knee provides powered knee flexion and extension, while the Rheo XC modulates damping passively during movement. Subjects will perform walking, stair climbing, slope navigation, and sit-to-stand activities while wearing each knee. Questionnaires and at-home diaries will capture user perceptions of comfort, exertion, and stability. During the study, detailed biomechanical data such as walking speed, metabolic energy cost, symmetry during sit-to-stand movements, step length, toe clearance, leg loading, and pelvic motion will be collected. Assessments occur after each one-month accommodation period. The study uses motion analysis labs for gait data and includes participant self-reporting. The total participation timeline includes fitting, training, accommodation, and evaluation phases for both knee types, allowing each participant to serve as their own control.

Researchers are studying recovery after heart surgery for people with Complex Congenital Heart Disease (CCHD) to understand the main risk factors affecting recovery. The study also aims to build a comprehensive data platform to support CCHD care throughout a person's life and develop a China-specific quality control system to improve surgical outcomes and guide national health policies. The study includes two groups: a retrospective group of 2,494 patients who already had CCHD surgery and are in an existing national database, and a prospective group of 1,940 patients scheduled for surgery as part of related sub-studies. Data collected include pre-surgery tests, surgical details, care during and after surgery, and follow-up for up to one year. Researchers will combine data from both groups to build a new registry and quality control system. Participants will have their medical records analyzed or have data collected during their care, depending on their group. Researchers will monitor recovery and outcomes up to one year after surgery, using the combined data to identify risk factors and develop a surgical quality control system. The study spans up to 48 months, aiming to improve CCHD care across all ages in China.

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.

Researchers are conducting an observational study to gather information on the prevalence, treatment, and outcomes of congenital heart disease (CHD) throughout patients' lives in China. The study focuses on various stages, from fetal diagnosis to early treatment of severe CHD in newborns, and includes standardized care for pregnant patients with CHD. The aim is to improve diagnosis and treatment at participating hospitals, especially for complex cases, and to promote uniform clinical practices in cardiovascular care across China, ultimately enhancing medical service quality and informing national treatment guidelines. The study will be carried out by Beijing Anzhen Hospital and the National Clinical Research Center for Cardiovascular Diseases, involving over 20 hospitals over five years. Starting January 1, 2024, each hospital will collect data on CHD inpatient cases monthly. A dedicated website will support data collection, education, training, and experience sharing. The project includes regular analysis and reporting of quality indicators, with guidance and support provided to hospitals to address issues and improve care. Hospitals showing excellence and improvement will be recognized to encourage overall quality advancement. Participants will be patients diagnosed with various forms of congenital heart disease. The study will monitor outcomes including mortality within the first week after surgery, rates of integrated prenatal and postnatal diagnosis and treatment, surgical intervention rates in newborns, and medium- to long-term survival and reoperation rates up to five years after discharge. Data collection will continue monthly, with ongoing education and quality improvement efforts, and the study is expected to last until January 1, 2030.

Many young children find visual field (VF) testing of peripheral vision difficult and not engaging, which leads to poor attention and unreliable test results. This issue causes challenges in diagnosing and monitoring eye conditions like glaucoma and optic nerve abnormalities in children. The study aims to develop a new device that makes VF testing more enjoyable and improves the consistency of children's responses, potentially enhancing the accuracy of peripheral vision assessments in pediatric patients. The study compares two approaches during Humphrey perimetry testing: one using a new device featuring a small video screen that shows popular cartoon characters as a fixation target along with audio instructions voiced as cartoon characters, and the other using the usual care procedures without these enhancements. Children participate in two study visits about a week apart to complete the tests under these different conditions. Participants will undergo Humphrey Visual Field tests during both visits to measure the consistency of their responses and reliability of the test results. Researchers will assess variability in mean deviation scores and other reliability indices to determine if the cartoon-based device improves test accuracy. The study lasts about one week between visits, with continued monitoring of test reliability and participant engagement throughout this period.

Researchers are studying the impact of exposure to Endocrine-Disrupting Chemicals (EDCs) on the risk of hypospadias, a common birth defect affecting the external genital organs in boys. This multicenter case-control study compares biological mothers of boys with hypospadias (Case Group) to mothers of boys without malformations (Control Group) to better understand environmental and hormonal factors that might contribute to this condition. The study aims to clarify how exposure to these chemicals during pregnancy might influence hormonal changes in newborns. The study involves a single consultation visit where a pediatric urologist or endocrinologist will confirm the presence or absence of hypospadias. Mothers will complete a validated European questionnaire and an occupation/exposure matrix to assess environmental and occupational exposure to EDCs during pregnancy. Hair samples will be collected from mothers to analyze accumulated toxic substances, and blood samples will be taken from the children to evaluate hormone levels during the neonatal mini-puberty period. For cases, an additional blood sample will be collected for DNA analysis. Participants will attend one visit where clinical examinations, interviews, and sample collections occur. Researchers will measure toxic exposures through hair analysis, assess environmental exposures using questionnaires and models, and evaluate hormonal levels in the children. The study will help improve understanding and prevention of hypospadias by linking environmental exposures and hormonal changes. The total participation involves this single visit, with careful monitoring and data collection during that time.

This research aims to evaluate the feasibility of a parent-child yoga intervention designed to reduce attention deficits in children aged 4 to 6 years with congenital heart disease (CHD). Children with CHD often face neurodevelopmental challenges, including a higher risk of attention deficit hyperactivity disorder (ADHD). This study is a preliminary step before conducting a larger randomized controlled trial (RCT) to test the effectiveness of this intervention in improving attention and long-term academic and psychosocial outcomes for these children and their families. The study is a single-blind, two-center, two-arm randomized feasibility trial involving 24 parent-child pairs. Participants will be randomly assigned in a 2:1 ratio to either an 8-week parent-child yoga program plus standard clinical care or standard clinical care alone with a waitlist option for yoga after the study. The yoga sessions last 45 minutes each week and include active and calming parts embedded in stories suitable for the child's developmental level. Parents and children will also be encouraged to practice 5-minute at-home exercises three times a week throughout the 8-week period and continue up to a 6-month follow-up. Participants will undergo three neurodevelopmental assessments: before the intervention, immediately after, and six months later. The study will monitor recruitment, dropout, and adherence rates; acceptability of randomization; variation in yoga delivery; and data completeness. These measurements will help determine the feasibility of the procedures and inform the sample size for the future full-scale RCT. Overall participation spans about eight months including the intervention and follow-up periods.

Researchers are studying the safety and effectiveness of a single dose of nexiguran ziclumeran (NTLA-2001) compared to a placebo in people with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). This phase 3, multinational, randomized, double-blind, placebo-controlled trial involves about 60 participants with this nerve disease and genetic condition affecting the peripheral nervous system. Participants will be randomly assigned to receive a single intravenous infusion of either nexiguran ziclumeran 55 mg or a placebo of normal saline. To give everyone a chance to receive the study drug, participants may switch to the other treatment group at either 12 or 18 months, depending on specific study criteria. The study is designed to compare the effects of the drug and placebo over time. During the study, participants will be monitored for nerve function using the Modified Neuropathy Impairment Score +7 (mNIS+7) over 18 months and blood levels of serum transthyretin at 29 days and 18 months. Quality of life, body mass index, and other health measures will also be evaluated. The study includes careful safety monitoring and will last up to 18 months with ongoing assessments to track participants' nerve health and overall well-being.