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 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 a way to repair, replace, or introduce new copies of genes that don't work. The study drug contains a working copy of the OTC gene that will be delivered by an IV infusion. It also contains a gene to encode the editing enzyme which is the part of the study drug that can cut DNA so that the OTC gene can be inserted. The study drug was designed to introduce a working copy of the OTC gene and a gene to encode the editing enzyme. A gene cannot enter cells by itself, it needs a delivery mechanism to move the gene into the cells. In this study, a commonly used virus called adeno-associated virus (AAV) is used to enter the cells and deliver the genes.

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.

Polycystic Ovarian Syndrome is a point of concern these days in female population around the world.The patients feel psychological and mentally unhealthy. PCO effects around 6- 14% of women worldwide. PCOS is characterized by hormonal dis-regulation and hyperinsulinemia. Improvements in sex hormones and insulin sensitivity in PCOS women, either through lifestyle changes or through pharmaceutical intervention, have consistently resulted in a marked improvement in the reproductive and metabolic abnormalities in PCOS Commonly prescribed treatment for PCOS include oral contraceptives (OCPs), metformin, pioglitazone, estrogen, GnRH agonist, myo-inositol, letrozole and clomiphene citrate. Despite their effectiveness in symptom relief and ovulation induction, these treatments are associated with adverse effects including weight gain, cardiac issues, lactic acidosis, dysmenorrhea, and abdominal discomfort (Hussain et al., 2022). Given the limitations of conventional drugs, Herbal therapies are gaining attention for their multi-targeted ability to restore natural hormonal balance, improve ovulation and offer symptom relief with minimal side effects (Hussain et al., 2022). In this context, the present study is designed to explore the therapeutic benefits of a novel polyherbal formulation that includes Momordica charantia L., Linum usitatissimum, Symplocos racemose bark, Allium cepa L., Tribulus terrestris, and eggshell. These ingredients were selected based on their various pharmacological properties that are relevant to the pathophysiology of PCOS. This study will evaluate the safety and effectiveness of Melats P in achieving a successful menstruation regulation in PCOS women.We will recruit 3 groups , First group with conventional treatment (Metformin ) , Second with Alternative medicine having a herbal Formulation ( Melats P) and Third group patients will receive both Conventional (Metformin) and Herbal Formulationn (Melats P).