Aceruloplasminemia

Radiotherapy is a common treatment for head and neck tumors, but nearly all patients develop acute inflammation called Radiotherapy-Induced Oral Mucositis (RIOM). This condition lowers quality of life, interferes with treatment, reduces effectiveness, and increases costs. Current treatments mainly address symptoms and do not significantly affect the course or severity of mucositis. Researchers are studying how metal elements in the body may be linked to the development and severity of RIOM to improve prediction and prevention strategies. This research involves a prospective, single-center, observational study to explore the relationship between metal elements and severe oral mucositis caused by radiation. The study will analyze how well metal element levels predict RIOM and track changes in these elements during radiotherapy. Participants will be patients diagnosed with nasopharyngeal carcinoma or other head and neck tumors who are receiving radiotherapy. Participants will be monitored throughout their radiotherapy and for up to one year to assess the rates of severe oral mucositis. The study collects information on metal element levels and observes their dynamic changes during treatment. Researchers aim to better understand the link between metals and mucositis severity to support improved prevention and management of this common side effect.

Researchers are investigating the relationship between ovarian function and serum biomarkers in women. This observational study aims to identify differences in blood levels of copper ions, iron ions, ceruloplasmin (CP), CuZn superoxide dismutase (CuZn SOD), and malondialdehyde (MDA) between women with normal ovarian function and those with premature ovarian insufficiency or diminished ovarian reserve. Participants will have blood samples collected to measure these serum biomarkers. The study involves two groups: an observation group with ovarian dysfunction and a control group with normal ovarian function. Blood samples will also be kept for testing sex hormones without requiring additional blood draws. The samples are collected during the 2nd to 4th day of menstruation, or during the enrolled week for amenorrhea patients. During the study, participants will undergo blood tests to assess biomarker levels. Researchers will monitor copper, iron, ceruloplasmin, CuZn SOD, and malondialdehyde levels. Participants are women aged 18 to 45 years, with measurements and consent documented. The study excludes those with certain medical conditions or treatments affecting ovarian function. Overall participation timelines are not specified but focus on menstrual cycle timing for sample collection.

Researchers are maintaining the TIRCON international patient registry and natural history study focused on Neurodegeneration Associated with Brain Iron Accumulation (NBIA) disorders. This registry collects data globally to better understand NBIA and its various subtypes, including Pantothenate Kinase-associated Neurodegeneration (PKAN) and Beta-Propeller Protein-Associated Neurodegeneration (BPAN). The study aims to harmonize existing national and local registries, include new sites without prior access, recruit enough patients, define disease progression, identify the best outcome measures, and support future clinical trial design. The registry is web-based and collects natural history data annually, or every six months for rapidly progressing patients. It includes assessments using validated scales such as the Barry-Albright Dystonia scale, the Unified Parkinson Disease Rating Scale (UPDRS parts I-III and VI), Patient's Global Impression of Improvement, and quality-of-life measures. Patients can participate after informed consent when they present to one of the study centers. The registry has been funded and supported by international collaborations and donations. Participants are followed with yearly evaluations for up to 30 years or until they stop participating or pass away. Researchers track changes in dystonia severity, Parkinson's disease symptoms, quality of life, and overall disease progression. These assessments help define the natural history of NBIA disorders and guide clinical research. The study includes regular clinical visits and data collection without investigational treatments.

Fahr's disease or syndrome, also known as primary familial brain calcification (PFBC), is a neurodegenerative condition characterized by bilateral calcifications in the basal ganglia. Symptoms typically begin between ages 30 and 50 and include neuropsychiatric signs, cognitive decline, movement disorders, migraines, speech disorders, pain, and seizures. These symptoms progress slowly and can lead to increased dependency in daily activities and reduced quality of life. Currently, no disease-modifying treatments are available, but bisphosphonates like alendronate have shown potential benefits in small case series, prompting this randomized controlled trial to evaluate bisphosphonate effects in Fahr's disease or syndrome. Participants will receive either etidronate or a placebo in a double-blind, randomized setup. Etidronate is given orally in capsules at a dose of 20 mg/kg for two weeks followed by a ten-week break, repeated in four two-week periods during a 12-month follow-up. Placebo capsules match the administration schedule of etidronate. This study aims to investigate the impact of this treatment on ectopic calcification in the brain in patients diagnosed with Fahr's disease or syndrome. During the 12-month study period, participants will undergo various assessments, including evaluations of overall cognitive functioning, memory, attention and speed of information processing, executive functioning, and social cognition. These measurements will help determine the effectiveness of etidronate treatment. Safety and participant adherence will be monitored throughout the trial, supporting a comprehensive understanding of the treatment's impact over the study duration.