Urea Cycle Disorder

The duration of treatment with GPB in this study was 5 years. Forty participants aged 0-18 years with a diagnosis of UCD, including carbamoyl phosphate synthetase I deficiency, ornithine carbamoyltransferase deficiency, citrullinemia type I, argininosuccinic aciduria, argininemia, or hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, and who plan to use and have not used glycerol phenylbutyrate in the previous 3 months (including 3 months) were enrolled. Participants should return to clinic visits at 1 month and 3 months after enrollment. They were queried about any adverse events (AEs), dosage change of the study drug or hyperammonemic crises (HACs) that occurred since the last visit, and blood samples were collected for the analysis of ammonia and blood biochemistry. Then the detailed information on AEs, dosage change of the study drug, HACs, and data about ammonia, routine clinical laboratory safety tests and neurocognitive outcomes that have been actually completed in the clinical practice of the patients will be collected every 6 months until 5 years. Height, weight and/or head circumference data were also collected at each visit. The assessments would be conducted at 1, 3, and 6 months, and subsequently on a semi-annual basis. The evaluation of ammonia levels, frequency of HACs, dosage of the study drug, AEs, serious AEs, and concomitant medications were included. The neurocognitive outcomes, growth and development of the participants would be described at the end.

This randomized, triple-blind, placebo-controlled study will evaluate the efficacy of Diaberine, a berberine-based nutraceutical, in aiding blood sugar regulation and metabolism in 80 participants over 24 weeks.

Study Description: This study will examine the relationships between comprehensively measured resting energy expenditure (REE), body composition, and body surface area (BSA) in a wide range of healthy and diseased individuals. Objectives: Primary Objectives: * To compare estimated and measured BSA. * To determine if measured BSA is associated with REE independent of body composition measures Endpoints: Primary Endpoints: * Mean difference and limits of agreement at baseline between measured BSA and predicted BSA calculated from traditional biometrics such as height and weight. * Increase in R\^2 when measured BSA is added to equations predicting REE.

This is a multinational, multicenter, double-blind, placebo-controlled study in approximately 60 participants, who will be randomized 1:1 to receive a single infusion of either nexiguran ziclumeran or placebo. To ensure all participants will have the potential to receive nexiguran ziclumeran, participants will have the option to cross over to the opposite study arm at Month 12 or Month 18, depending on study criteria.

This a Phase 2a, open-label study of ARCT-810 in participants 12 years of age and older living with OTC deficiency. After a diet stabilization period of at least 4 weeks, all participants will be enrolled to receive ARCT-810 every two weeks, for up to five doses, at one of three dose levels. Clinic visits will occur during screening and at Days 1, 15, 29, 36, 43, 57, 60, 71, and 85. During the study, participants will remain on their current clinical management for OTC deficiency. Dose escalation or cohort expansion may occur following completion of three participants at each dose level.

This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non-interventional study. Patients will be treated per the prescribing information and routine medical practice. Only available data will be collected as part of the study including developmental outcomes, details of treatment with Carbaglu® and other treatments for hyperammonemia including dietary and protein management, plasma ammonia levels, pregnancy and maternal complications, adverse effects on the developing fetus and neonate, adverse effects on the infant through first year of life.

The study drug, ECUR-506, is an investigational gene editing therapy. Gene editing is an approach used to repair, replace, or introduce functional copies of genes that are not working properly. ECUR-506 contains a functional copy of the OTC gene, along with a gene to encode an editing enzyme that enables insertion of the OTC gene into the genome. The study drug is administered as a single IV infusion. Because genes cannot enter cells on their own, ECUR-506 uses a delivery system based on adeno-associated virus (AAV), a commonly used viral vector, to transport the genetic material into cells.

The study uses reduced intensity conditioning that is immune suppressive to achieve donor cell engraftment without exposure to radiation or high dose chemotherapy in children with non-malignant disorders. The intent is to minimize early and late regimen related toxicities in the context of a reduced intensity regimen. In addition to maximizing opportunity for donor cell engraftment, the trial seeks to minimize toxicities associated with transplant such as graft versus host disease and employs GVHD prophylaxis that seeks to decrease rates of acute and chronic GVHD in the setting of matched and mismatched donor stem cell transplants from marrow and cord blood sources.

Study Description: Caregivers will be invited to participate in surveys and interviews to assess their cognitions and emotions about caregiving, caregiving burden, and caregiving or support network systems during the life of the Care Recipient. The study will also include a bereavement component, in which families who have experienced the death of a Care Recipient may choose to participate. In addition, biomarkers may be evaluated in consenting individuals to assess genetic susceptibility to stress and stress-related dysregulations in the endocrine and immune systems. Objectives: The primary objective of this study is to investigate the natural history of family caregiver stress over time, providing opportunity to understand the social, psychological, behavioral, and biological factors that characterize caregivers response to long-term caregiving during the life and after death of a Care Recipient with a chronic medical condition. Endpoints: To assess the change over time in terms of social, psychological, behavioral, and biological factors associated with caregiving.

The Chinese Migrant Population Health Cohort is a prospective, multi-center study jointly initiated by Professor Yong Ji, President of Harbin Medical University, and Academician Guoqiang Chen, President of Hainan Medical University, in collaboration with regional partners. It targets older adults (≥60 years) who engage in seasonal migration between cold (Heilongjiang) and tropical (Hainan) regions. The primary objective is to investigate cardiovascular and metabolic disease risks, underlying biological and environmental mechanisms, and effective preventive strategies in this unique population. Participants are recruited from both origin and destination sites and undergo standardized baseline assessments, including questionnaires, physical examinations, medical imaging, biospecimen collection (blood, stool, hair, nails), and environmental exposure monitoring. Longitudinal follow-up includes periodic reassessments, remote monitoring, and data linkage with hospital information systems to capture health outcomes. The study aims to: Define migration-related health risk profiles and disease phenotypes. Elucidate biological and environmental mechanisms influencing disease onset and progression. Develop AI-driven risk prediction models and evaluate targeted interventions through nested randomized controlled trials. Translate findings into clinical guidelines and scalable cross-regional health management models. This is the first cohort in China to systematically investigate the health impacts of seasonal migration in older adults. By integrating epidemiology, multi-omics, environmental data, and health policy translation, the study seeks to improve continuity of care, strengthen climate adaptation, and promote healthy ageing.