Congenital Disorder

Researchers are evaluating the optimization of 18F-DOPA PET/CT imaging in specific patient groups including pediatric patients with congenital hyperinsulinism or neuroblastoma, pediatric and adult patients with neuroendocrine tumors or brain tumors, and adults suspected of Parkinson's disease or Lewy body dementia. The study aims to improve image quality using a new digital PET/CT scanner and intravenous furosemide, while also exploring gallbladder activity patterns related to dopaminergic degeneration. Participants will receive an intravenous injection of 18F-DOPA, with some also receiving a single intravenous dose of furosemide. The study includes a primary objective of assessing image quality improvements in the pelvis area and a secondary objective examining gallbladder activity patterns using dynamic imaging in a subgroup. Imaging data will be compared to previous scans with older technology. During the study, participants will undergo PET/CT scans, with measurements of lesion size and activity, bladder activity, and image artifact scoring. A questionnaire will screen for gallbladder disease history. The research team will analyze the imaging results and gallbladder activity patterns, with follow-up assessments occurring within one to three months. The total planned enrollment is 800 patients over approximately five years, with detailed monitoring of image optimization and gallbladder activity.

This research aims to evaluate the use of 18F-Fluoro-L-DOPA PET imaging as a pre-operative tool to distinguish between focal and diffuse forms of congenital hyperinsulinism (HI) and to locate focal lesions in the pancreas. Congenital hyperinsulinism is a common cause of persistent low blood sugar in infants, often requiring surgery when medications do not work. Identifying focal lesions before surgery could help guide pancreatic resection more accurately. The study involves imaging patients diagnosed with congenital hyperinsulinism using 18F-Fluoro Dopa PET scans. This imaging technique is being assessed for its ability to detect and locate diseased areas in the pancreas. The trial is a single-arm phase 2 study where all participants receive the 18F-Fluoro Dopa imaging. Participants must stop certain medications before the scan to ensure accurate imaging results. Participants will undergo the PET scan, and researchers will measure the sensitivity and accuracy of the imaging within four weeks. Additional semi-quantitative assessments will also be performed. The study includes infants and children up to 18 years old, with careful monitoring of liver and kidney function. The total time for outcome measurement is four weeks after imaging to evaluate its diagnostic performance.

Researchers are studying changes in the shape of the palate in growing children with different vertical facial growth patterns who have a posterior cross-bite. The study focuses on patients with mixed dentition, skeletal Class I relationship, and who are in the prepubertal stage. The goal is to understand how rapid palatal expander treatment affects the palate morphology among hyperdivergent, hypodivergent, and normodivergent facial types. The treatment involves using a rapid palatal expander device for about 6 months. Patients will be grouped based on their facial divergence patterns. Digital dental casts will be recorded before and after the treatment using an intraoral scanner. Researchers will perform linear measurements and a comprehensive study of the palate shape using a set of 240 landmarks and semi-landmarks. Geometric Morphometric Analysis (GMA) will compare the palate shape changes among the different groups. Participants will undergo clinical evaluations and have pre-treatment and post-treatment digital records including oral scans and photographs. The primary outcome is to measure morphological changes of the palate after 6 months. Secondary outcomes include detailed shape analysis of the palatal vault among the different facial types. The study requires good quality records and informed consent from participants, with total participation lasting around 6 months.

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 studying the brain's action observation network (AON), which is involved in understanding and imitating movements, especially focusing on subcortical areas and the cerebellum. The study aims to explore how this network functions in healthy individuals and in people with Cerebral Palsy (CP) who have early brain injuries. This research seeks to understand differences in brain activation patterns and their relation to clinical features in CP patients using advanced imaging techniques. Participants will undergo a 7 Tesla MRI scan using a high-resolution functional and anatomical protocol. The MRI will capture detailed images of brain structures including the cerebral cortex, subcortical nuclei, and cerebellum. Visual tasks involving observation of hand movements and tool use will be presented during the scan. CP patients will also receive a full clinical assessment before the MRI. The study includes both healthy volunteers and CP patients, with careful monitoring of participant compliance to avoid motion artifacts. During the study, researchers will evaluate brain activation and connectivity maps of the AON from the 7T MRI data. Participants' motor functions and clinical characteristics will be assessed for correlation with imaging results. The study involves observation during MRI scanning, clinical assessments, and monitoring of participants' responses to visual stimuli. This trial is expected to provide detailed insights into brain network organization and its changes in CP. The total participation includes MRI scanning and clinical evaluations around a single visit.

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.

This research aims to evaluate the treatment of deucravacitinib in adults with inflammatory epidermal genodermatoses, including conditions such as Epidermolysis Bullosa Simplex and various ichthyoses. The study focuses on assessing the efficacy and safety of this treatment for these rare skin disorders. It is a phase 2, open-label trial lasting 44 weeks conducted at a single center. Participants will undergo a treatment schedule divided into three periods: an initial 16-week treatment (challenge period), followed by a 12-week break from treatment (dechallenge period), and a second 16-week treatment period (rechallenge period). During these phases, participants will receive deucravacitinib and be closely monitored. The study uses a challenge-dechallenge-rechallenge design to evaluate treatment effects. Throughout the study, participants will attend eight visits where doctors will check their vital signs, perform clinical exams, and assess treatment adherence and any side effects. Participants will also complete questionnaires and provide blood samples. Researchers will primarily measure the efficacy of deucravacitinib at week 44 and monitor safety. The total participation duration is 44 weeks, ending with a final evaluation.

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.