Diabetes Insipidus

Researchers are evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of NDI-5001 capsules in adult males with X-linked congenital nephrogenic diabetes insipidus caused by vasopressin receptor Type 2 mutations. This study focuses on how the body absorbs and responds to NDI-5001 given daily, aiming to better understand its effects in this specific condition. Participants will take NDI-5001 orally once daily for nine consecutive days. The study includes only one treatment group receiving the investigational drug. The trial monitors urine volume and osmolality changes to assess drug effects up to day 10. Safety assessments continue through day 31 or 39 for laboratory tests, vital signs, physical exams, and electrocardiograms. During the study, participants will undergo urine sample collections, blood tests, and clinical evaluations before and during treatment. Researchers will measure urine volume and concentration changes, drug levels in the blood, and monitor for any adverse events. The total participation time includes screening, a nine-day treatment period, and safety follow-up visits lasting up to 39 days from the start.

Researchers are evaluating a phase II trial studying how well lower dose radiotherapy after chemotherapy works in treating children and young adults with central nervous system CNS germinomas. This trial aims to compare reduced radiation doses to standard treatment while maintaining effectiveness, potentially reducing long-term side effects. The study also investigates survival rates, tumor response, neuroendocrine function, and cognitive processing speed in participants with localized, metastatic, and basal ganglia or thalamic germinomas. Participants receive chemotherapy with carboplatin and etoposide intravenously over several days, repeated every 21 days for up to four cycles. After chemotherapy, patients are assigned to different treatment groups strata based on tumor response and location. Radiation therapy is delivered using advanced techniques such as 3D conformal radiation, proton therapy, or intensity-modulated radiation daily on weekdays for 16 to 24 days depending on the stratum. Some patients may undergo second-look surgery. The study includes collection of blood, cerebrospinal fluid, and tumor tissue samples for research. Throughout the study, participants undergo MRI scans and may have lumbar punctures for cerebrospinal fluid collection. Follow-up occurs every three months for the first year, then every four months for two years, and annually up to ten years. Researchers measure event-free survival, overall survival, tumor response, neuroendocrine function, and cognitive processing speed at multiple time points. The study also monitors for cerebral vascular events and evaluates long-term cognitive, social, and behavioral outcomes.

Researchers are studying pituitary tumors, which are a varied group of tumors affecting the pituitary gland. This observational study focuses on collecting detailed clinical, biochemical, morphological, and pathological data from over 1600 patients who have undergone neurosurgical removal of pituitary tumors in the past 20 years. The goal is to develop a prognostic classification to better predict tumor behavior and outcomes, as current data on epidemiology and prognosis are inconclusive. The study involves patients who have had surgery for pituitary tumors, with data collected retrospectively and prospectively. The main focus is on monitoring the frequency of disease recurrence. Participants have been followed for at least two years after their tumor removal, allowing researchers to track tumor recurrence over time. Participants will be observed from enrollment through 24 months of follow-up to assess tumor recurrence. Researchers will gather information from medical records and follow-up visits to evaluate outcomes. This study does not involve any experimental treatment, but rather monitors surgical outcomes and tumor behavior to improve future understanding of pituitary tumors.

This research aims to evaluate whether a thirst kit using a lemon popsicle can reduce thirst intensity in adults undergoing hospital bowel preparation for colonoscopy. The study also examines if the kit can lessen symptoms like dry mouth and dry throat and how satisfied patients are with this intervention compared to a placebo. The trial is designed to randomly assign participants to either the thirst kit or a placebo group for comparison. Participants will receive either a lemon-flavored popsicle with an encouraging message or a placebo consisting of distilled water in a blister pack with a cotton ball and the same message. These interventions are used during the hospital bowel preparation period before colonoscopy. The lemon popsicle group receives a 60g popsicle from a specific brand, while the placebo group receives a 10 ml water blister pack. During the study, participants will rate their thirst intensity and related symptoms using numerical scales just before sedation begins for the colonoscopy. Researchers will collect these ratings to assess the primary outcome of thirst intensity. The entire process occurs in the hospital setting, and the study includes adults aged 18 and older who are undergoing bowel preparation for colonoscopy. The studys main measurement happens 10 minutes before sedation when patients arrive at the examination room.

This research aims to validate the B-COMPASS, a computational model developed by the BEAMER project to improve patient adherence to treatment across various diseases. Adherence to treatment is a widespread issue leading to increased healthcare use and premature death, with about half of medications not taken as prescribed. The study evaluates the models ability to predict adherence, identify patient support needs, and enhance healthcare engagement in six therapeutic areas, including cardiovascular, endocrinology, immunology, neurology, oncology, and rare diseases. Participants complete the BEAMER questionnaire, which the B-COMPASS uses to group patients based on their adherence needs and predict their adherence. Patients are randomized into a control group receiving standard care or an intervention group receiving enhanced engagement through educational materials for healthcare providers tailored to the patients B-COMPASS profile. Engagement occurs in person or by phone, depending on patient schedules, and healthcare providers may also be randomized to limit knowledge of the B-COMPASS in control groups. Participants are involved in two main data collections spaced from 2 weeks to 6 months apart, during which adherence measures, patient support needs, and perceptions of engagement are assessed. The study measures the accuracy, validity, and reliability of B-COMPASS predictions, its impact on adherence, patient and provider perceptions, and cost-effectiveness. The total participation timeline varies by site and disease area, with continuous monitoring of healthcare utilization and patient experience.

Researchers are studying patients with pituitary complex and rare diseases to better understand their clinical features and outcomes. This observational study at Peking Union Medical College Hospital aims to identify factors influencing remission rates, associated comorbidities, perioperative events, radiological findings, and pathological characteristics. By comparing different patient groups, the study seeks to improve knowledge about managing and predicting the course of these conditions. Participants include patients diagnosed with various pituitary disorders such as pituitary adenomas, craniopharyngiomas, Rathkes cleft cysts, sellar region germ cell tumors, and cavernous sinus syndrome. Those needing surgical removal or biopsy of pituitary pathologies will undergo transsphenoidal surgery or craniotomy. Treatments studied involve surgical removal and biopsy procedures to collect tissue for examination and diagnosis. During the study, participants will have detailed clinical evaluations, provide comprehensive medical histories including symptoms, treatments, and outcomes, and take part in follow-up assessments to monitor disease progression. Researchers will track remission starting one week after surgery and continuing up to three years, along with comorbidities and postoperative complications over the same period. The study collects imaging and pathological data to enhance understanding of these rare diseases.

Researchers are collecting data to better understand thyroid, parathyroid, and adrenal diseases. This observational study involves patients with diagnosed or suspected endocrine diseases and aims to gather information from medical records and follow-ups. The data will help learn more about the participants or their childs illness, treatment, recovery, and medical history over a long period. Participants medical information will be recorded into a research database. Starting about 2 to 3 years after testing, diagnosis, or treatment, and continuing for up to 15 years after surgery, the research team will follow up by phone to ask about their current health and medical history. If participants have routine clinic visits near their follow-up time, the research team may meet them in person or send questionnaires by mail if needed. Participants or their children will be contacted every 2 to 3 years for phone interviews lasting about 20 to 30 minutes. The study will track their health status and medical history during these calls. The study aims to compile a comprehensive database over 15 years. Up to 15,000 patients will be enrolled, and participation involves data collection and periodic follow-up without altering usual care.

Researchers are evaluating a new diagnostic approach for polyuria-polydipsia syndrome PPS, a condition marked by excessive urination and fluid intake. The study compares a new test using mannitol infusion against the current standard hypertonic saline infusion test to see if it can diagnose the cause of PPS as accurately. The goal is to find a simpler, more comfortable, and patient-friendly diagnostic method that can better guide treatment decisions. Participants undergo both diagnostic tests in random order during this multicenter, randomized crossover trial. One test involves an intravenous infusion of mannitol over 30 minutes, while the other uses hypertonic saline given as a bolus followed by a slower infusion. Researchers compare the accuracy of each test and which test patients prefer. The study also looks at safety, tolerability, and explores additional clinical and lab measures to improve diagnosis. During the study, participants have blood samples taken to measure copeptin levels, a marker reflecting vasopressin hormone levels, after each test. Questionnaires assess patient test preference, quality of life, and psychological traits. Safety and symptom burden are monitored throughout. The main outcomes include diagnostic accuracy measured 10 weeks after baseline and patient preference one week after both tests. The total participation lasts about ten weeks from baseline to final follow-up.

Pheochromocytomas and paragangliomas are rare tumors arising from adrenal glands or nearby tissues, causing high blood pressure due to excess catecholamine release. These tumors can be hard to detect and pose serious risks during surgery, anesthesia, or childbirth. This study aims to improve diagnosis, localization, and treatment methods by investigating genetic, molecular, imaging, and biochemical features of these tumors, including their behavior and potential therapies. Participants include adults and children aged 3 years and older with known or suspected pheochromocytoma or paraganglioma. The study involves blood and urine tests for catecholamines and related compounds, as well as various imaging scans such as CT, MRI, and specialized PETCT scans using radioactive tracers like 18F-DOPA and 18F-6F-DA. Genetic testing is also performed. If a tumor is found, surgery may be offered if surgery is not possible, ongoing evaluations and medical treatments continue. Participants undergo medical history reviews, physical exams, ECGs, and regular biochemical and imaging assessments. Follow-up visits monitor tumor presence and treatment effects. The study measures tumor genotypes, biochemical profiles, imaging characteristics, and explores potential treatments using cell studies. Education for healthcare providers and patients about these tumors is also a goal. Participation can last many years, with ongoing monitoring and data collection.

The trial investigates the effects of intranasal oxytocin compared to placebo on emotion recognition and acute psychosocial stress in patients with arginine vasopressin deficiency central diabetes insipidus compared to healthy controls. This condition involves a deficiency in a neuropeptide that affects water balance and is treated with desmopressin, but patients often experience psychological symptoms such as anxiety, impaired emotion recognition, and increased stress. Oxytocin, a related neuropeptide, may influence social-emotional functions and reduce stress, and this study explores whether oxytocin treatment can improve these psychological symptoms. Participants will self-administer a single dose of 24 IU intranasal oxytocin or placebo under supervision in a randomized, placebo-controlled, double-blind, crossover design. The study is divided into two parts Part A assessing recognition of facial and body emotions with a two-week washout between visits, and Part B measuring cortisol response to acute psychosocial stress with an eight-week washout. The order of receiving oxytocin or placebo varies among four group assignments. Throughout the study, participants undergo tests measuring facial emotion and body expression recognition, cortisol response to stress, empathy, subjective emotional responses, heart rate, and blood pressure. The study lasts up to 10 weeks for stress response assessments and up to 4 weeks for emotion recognition. The research team monitors participants closely to evaluate the impact of oxytocin versus placebo on psychological and physiological responses.