Puteaux

This research aims to observe the real-world use and effects of pegcetacoplan in adults diagnosed with Paroxysmal Nocturnal Hemoglobinuria PNH. As a new treatment with a unique mechanism of action, pegcetacoplans effectiveness and safety in routine medical practice are being studied to provide valuable information for patients, healthcare providers, and payers. The study will also gather data on blood transfusions and healthcare resource use before and after starting pegcetacoplan. Patients who have started pegcetacoplan treatment within the past 12 months or are prescribed the drug at enrollment will be included. Data collection includes retrospective information from up to 12 months before treatment start and prospective monitoring for approximately 36 months, with the total data period extending up to about 48 months. After stopping pegcetacoplan, patients remain in the study for 8 weeks to record any adverse events. Patients continue regular clinic visits, where data from each visit will be gathered. Participants will have data collected on various health measures such as hemoglobin levels, blood markers, transfusion needs, and patient and physician treatment satisfaction at regular intervals up to 36 months. Safety and adverse events will be monitored throughout. The main outcome measured is the change in hemoglobin level from treatment start to 6 months. This long-term observational study allows for comprehensive tracking of pegcetacoplans use and effects over time in usual care settings.

This research aims to better understand hypothalamic obesity HO, a rare form of obesity caused by damage or malfunction in the hypothalamus, which controls energy balance. HO includes cases linked to hypothalamic lesions like craniopharyngioma and genetic causes such as Prader-Willi syndrome or mutations affecting the leptinmelanocortin pathway. HO leads to severe obesity combined with eating disorders, cognitive and behavioral challenges, endocrine and metabolic problems, and sometimes vision loss, greatly impacting quality of life and health outcomes. Currently, no specific treatment exists for HO, and clinical management mainly focuses on behavioral support for eating and physical activity. The study observes two groups one includes adults and children with severe obesity and genetic diagnoses related to eating disorders, and the other includes those with obesity or eating disorders caused by hypothalamic lesions. Participants receive ongoing care and assessments but no experimental drugs or treatments are administered, as this is an observational study. The goal is to improve early diagnosis, understand the natural progression of HO, and identify lifestyle patterns and health markers to personalize future care and guide innovative treatments. Participants will be followed for up to 20 years with regular evaluations occurring every 3 to 5 years depending on age. Assessments include measuring weight, height, calorie intake, eating behaviors such as hyperphagia and binge eating, physical activity, body composition, metabolic and cardiac function, neuropsychological testing, quality of life, and other health parameters. Data collected will help characterize the clinical and genetic profiles of HO to support better diagnosis, prognosis, and future therapeutic approaches.

Nephronophthisis NPH is a genetic kidney disease caused by mutations in over 20 genes, including NPHP1 and NPHP4. It leads to reduced urine concentration, chronic kidney inflammation, and often progresses to end-stage kidney failure before age 20. NPH can occur alone or with other symptoms like retinal problems and skeletal abnormalities, all linked to ciliary dysfunction. Currently, there is no effective treatment available for this condition. Researchers are studying the proteins and signaling pathways affected by NPHP gene mutations to find new treatment targets. The study collects blood and urine samples from affected patients, healthy relatives, and control groups to analyze urine components through advanced methods like proteome and metabolomics profiling. This helps identify biomarkers and assess drug responses in kidney cells derived from patients. Participants provide samples for multiomics analyses, including protein and microRNA profiling from urine extracellular vesicles. Researchers will monitor these biomarkers to evaluate potential therapeutic targets in urine-derived kidney cells over three years. The main goal is to confirm new targets and support the development of treatments for NPH and related kidney ciliopathies.