Aceruloplasminemia

Researchers are exploring the relationship between metal elements and the development of radiation-induced oral mucositis (RIOM) in patients treated for head and neck tumors, such as nasopharyngeal carcinoma. This observational study aims to understand how metal levels may predict the occurrence and severity of RIOM, a common and painful side effect of radiotherapy that significantly affects patients' quality of life and treatment success. The study will follow patients who are undergoing radiotherapy for head and neck tumors. It will observe changes in metal elements over time and analyze how these changes relate to severe RIOM. The research does not involve experimental treatments but focuses on collecting data throughout the radiotherapy process and after, with a monitoring period lasting up to one year. Participants will be regularly assessed for the incidence and duration of severe oral mucositis, quality of life, and other radiation-related side effects. The study will include laboratory tests and clinical evaluations to monitor these outcomes. The total observation period for each participant can last up to one year following radiotherapy, allowing a comprehensive review of RIOM and its possible predictors.

Researchers are investigating differences in serum biomarkers among women with different ovarian functions, including those with diminished ovarian reserve, premature ovarian insufficiency, and normal ovarian function. This observational study aims to understand how these biomarkers correlate with ovarian health by comparing affected women to those with normal menstruation and hormone levels. The study involves collecting blood samples from women in three groups: those with diminished ovarian reserve, those with premature ovarian insufficiency, and healthy controls with regular menstruation. The blood tests will measure levels of copper ions, iron ions, ceruloplasmin, CuZn superoxide dismutase, and malondialdehyde, among other related biomarkers associated with copper and iron metabolism and oxidative stress. Participants will provide blood samples during the 2nd to 4th day of their menstrual cycle or during the enrolled week for amenorrhea patients. Researchers will analyze these samples to assess the biomarkers and evaluate ovarian function. The study involves informed consent and includes women aged 18 to 45, with some groups having specific hormone level criteria. The trial will continue until November 2025, with data collected to better understand ovarian aging and function.

Researchers are conducting an international patient registry and natural history study for Neurodegeneration Associated with Brain Iron Accumulation (NBIA) disorders. The study aims to combine and harmonize existing national and single-site registries, include countries and sites without prior access to NBIA registries, and recruit enough patients to better understand NBIA's natural history, identify suitable outcome measures, and support future clinical trials. The study collects yearly data through a web-based registry, with more frequent six-month assessments for rapidly progressing cases. It uses various scales to assess disease stage and progression, including the Barry Albright Dystonia scale, Unified Parkinson Disease Rating Scale (UPDRS), Patient's Global Impression of Improvement (PGII), and quality-of-life scores. Patients with suspected or confirmed NBIA are eligible to participate after giving informed consent. During the study, participants undergo regular yearly assessments for up to 30 years or until discontinuation or death. These assessments track changes in dystonia severity, Parkinson's symptoms, pediatric quality of life, and disease progression. Data collection helps define disease progression patterns and informs clinical trial design. The registry is maintained through donations and industry support to ensure long-term data availability.

Fahr's disease and syndrome are neurodegenerative conditions characterized by bilateral calcifications in the basal ganglia, leading to symptoms like neuropsychiatric issues, cognitive decline, movement disorders, and other signs such as migraines and seizures. Symptoms typically begin between ages 30 and 50 and progress slowly, increasing the risk of dependence in daily activities and reducing quality of life. There are currently no disease-modifying treatments available for these conditions, but previous small studies suggest bisphosphonates like alendronate may help. This trial is a randomized, placebo-controlled, double-blind study evaluating the effect of etidronate, a bisphosphonate, on ectopic calcification in patients with Fahr's disease or syndrome. Participants will receive either etidronate at 20 mg/kg or placebo orally in capsules for two weeks followed by a ten-week break, repeated over 12 months. The study includes four treatment periods of two weeks each within the year. Participants will undergo cognitive and neuropsychiatric assessments, evaluations of mobility, daily living activities, and quality of life at 12 months. Brain imaging will measure calcification volume. The primary outcomes focus on various cognitive functions including memory, attention, executive functioning, and social cognition. Secondary outcomes assess mobility, neuropsychiatric symptoms, daily functioning, and quality of life. The trial includes close monitoring and lasts for one year.