Neural Tube Defect

Researchers are conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation (DBS) for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

This research aims to evaluate postoperative respiratory complications (PORC) in children with obstructive sleep apnea (OSA) who undergo (adeno)tonsillectomy. It combines data from two centers: University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had (adeno)tonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants' information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had (adeno)tonsillectomy for OSA, with follow-up limited to the immediate postoperative period.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are conducting an observational prospective study to build a large-scale multiomic database of adult patients undergoing advanced imaging studies. The study focuses on using recently introduced photon counting CT scanners and high-field 3T MRI scanners to explore latent imaging information, called "opportunist features," which may provide new insights into disease risk and progression. This research aims to improve understanding of pathological mechanisms and enhance diagnostic and prognostic accuracy in fields such as oncology, neurology, pulmonary, and cardiovascular diseases. The study enrolls consecutive adults undergoing advanced imaging examinations at a single center using the Photon Counting CT scanner (Neaotom Alpha, Siemens) and 3T MRI (MR 7700, Philips). Imaging raw data along with conventional images will be stored. Clinical, demographic, and laboratory information, including genetic test results when available, will be collected at enrollment. Blood samples for lab analysis will be taken during contrast media administration when applicable. Annual updates through clinical visits, telehealth, or phone interviews will be conducted to gather follow-up clinical, lab, and imaging data over a 10-year period. Participants will be asked to provide informed consent and undergo routine imaging and clinical assessments as part of their standard care. Data collection includes questionnaires, interviews, and automatic record updates when examinations occur at the study site. Researchers will monitor the development of imaging signatures linked to disease prevention, diagnosis, and treatment. The primary outcome is the creation of a comprehensive multiomics archive to support broad scientific research, with yearly follow-ups for up to 10 years.

This research aims to evaluate a new advanced wireless skin sensor system designed to monitor vital signs in healthy newborn infants of at least 35 weeks gestational age. The study focuses on assessing the feasibility, safety, and accuracy of this wireless system compared to the standard wired monitoring during the first two hours after birth, especially during unsupervised parental care in the obstetrical center. The goal is to improve early detection and prevention of Sudden Unexpected Postnatal Collapse (SUPC), a rare but serious condition affecting newborns shortly after delivery. Participants will have both the wireless monitoring system and the standard wired system placed on their chest and limb. For vaginal births, the wireless system is placed first, followed by the wired system after 15-20 minutes; for C-section births, the order of placement is randomized. Both monitoring systems remain in place for two hours to continuously record vital signs such as heart rate, respiratory rate, oxygen saturation, and skin temperature. During the study, newborns' vital signs will be recorded and compared between the two systems for up to two hours immediately after delivery. Researchers will evaluate the feasibility by checking for gaps in data and user satisfaction, assess safety through skin and pain scores, and measure accuracy using statistical comparisons. The study also includes monitoring the time between sensor placement and data display. Participation lasts only the initial two-hour period after birth, with monitoring done under real-world conditions in the obstetrical center.

This research aims to develop and validate an artificial intelligence (AI) software to recognize fetal brain structures and distinguish between normal and abnormal brain anatomy during the second trimester ultrasound scan. The study focuses on fetal brain abnormalities, which are challenging to diagnose prenatally. AI technology may improve detection, reduce variability between operators, shorten examination time, and optimize healthcare resources. The study is conducted by multiple fetal medicine centers and targets pregnant women undergoing routine screening for fetal anomalies. The study consists of two phases: a retrospective phase and a prospective phase. In the first phase, researchers collect and analyze ultrasound images taken between 19 and 22 weeks of gestation from various centers to develop and train the AI algorithm with both normal and abnormal fetal brain images. The second phase prospectively tests the AI algorithm in real clinical settings on patients from the participating centers to validate its performance in assessing fetal brain anatomy. Participants are singleton pregnant women between 19 and 22 weeks of pregnancy who undergo ultrasound scans. Researchers will collect clinical, ultrasound, prenatal, and postnatal data, anonymize images, and store them securely for analysis. The primary outcome is validating the AI algorithm over two years. Secondary outcomes include improving reproducibility and reducing examination time within one year. The study involves continuous monitoring and assessment of ultrasound images to support routine fetal brain screening.

Researchers are conducting a prospective, single-arm observational study to collect data from whole-body magnetic resonance imaging (WB-MRI) scans of up to 100,000 adult participants aged 18 and older across multiple clinical sites in the United States. The study aims to evaluate the accuracy of WB-MRI screening in predicting clinically significant diseases, including cancer, metabolic diseases, aneurysms, and neurologic disorders, in people interested in proactive and advanced preventive healthcare. Participants must meet specific inclusion and exclusion criteria to ensure safety and appropriate enrollment. Participants will undergo a whole-body MRI scan as the primary procedure of the study. The study does not involve any treatment but focuses on diagnostic imaging to detect and assess clinically significant diseases. The study plans to follow participants for up to 10 years to monitor and evaluate outcomes related to clinically significant disease diagnoses and oncological findings using established scoring systems such as the ONCO-RADS score. During the study, participants will provide clinical, demographic, and medical history information and complete consent procedures. Researchers will collect and analyze data from the MRI scans and track diagnoses over the follow-up period. The study includes safety monitoring to exclude individuals with contraindicated medical devices or conditions that could pose risks. Participation involves attendance at clinical sites for imaging and data collection, with long-term follow-up to assess health outcomes over up to a decade.

The study focuses on patients admitted to the intensive care unit (ICU), a key part of modern healthcare that provides specialized care for critically ill individuals. It aims to analyze how patient outcomes and mortality rates have changed over time from 1991 to 2026 at the Hospital Universitario Getafe's 18-bed medical-surgical ICU. The research highlights the evolution of intensive care practices, particularly regarding mechanical ventilation and its impact on patient survival. This is an observational study that does not involve specific treatments or interventions. Instead, it reviews data collected over several decades, including changes in ICU management strategies, respiratory support techniques, and other critical care practices. The study covers various outcomes such as use of mechanical ventilation, length of ICU and hospital stay, and complications during ICU admission. Participants will have their medical records and outcomes analyzed retrospectively without additional procedures or interventions. Researchers will measure ICU mortality at 180 days as the primary outcome and also examine hospital mortality, 28-day mortality, mechanical ventilation use, length of stay, and complications over the same period. The study spans from patients admitted since 1991 through to 2026, providing a long-term view of ICU patient care evolution and outcomes.

Researchers are developing and managing the AnovaOS Network Powered Patient Registry to collect real-world patient data across various diseases globally. This registry aims to capture meaningful clinical information on diagnosis, infection course, treatments, and outcomes to enhance understanding and support future clinical trials and observational studies. The registry serves as a resource to better understand, prevent, diagnose, and treat diverse health conditions. Participants' data will be gathered through this registry, which can also be used to recruit individuals for clinical trials and observational studies on promising therapies. The registry collects ongoing information on patients' health status and treatments, enabling long-term monitoring and analysis. This observational study does not involve administering treatments but focuses on data collection and management. Participants will provide information through questionnaires or instruments, either personally or via an informed proxy, with an expected follow-up once per year. The research team will assess natural history, clinical effectiveness, safety, and quality of care over a period of five years. The registry includes patients with a wide range of conditions, and participation requires informed consent and the ability to complete follow-up data collection.