Puteaux

Researchers are studying the real-world effectiveness of pegcetacoplan in patients with Paroxysmal Nocturnal Hemoglobinuria (PNH). This long-term, multicenter observational study aims to fill knowledge gaps about how pegcetacoplan works in routine medical practice. It also seeks to provide important information on red blood cell transfusions and healthcare resource use before and after starting pegcetacoplan treatment. Patients who have started pegcetacoplan treatment within the last 12 months or are prescribed it at enrollment will be followed for approximately 36 months. The study will collect both retrospective data from up to 12 months before treatment start and prospective data during treatment, with a total data collection period of up to about 48 months. After stopping pegcetacoplan, patients will remain in the study for 8 weeks to monitor for any adverse events. Participants will attend their usual medical visits, and data from these visits will be collected, including effectiveness measures, safety reports, patient- and clinician-reported outcomes, and healthcare use. The primary outcome includes changes in hemoglobin levels over 6 months from the start of pegcetacoplan treatment. The study plans to enroll about 200 patients across multiple countries, and data collection includes both retrospective and prospective periods, capturing comprehensive information on pegcetacoplan use in real-world settings.

Researchers are investigating hypothalamic obesity (HO), a rare and severe form of obesity caused by problems with the hypothalamus, which controls energy and weight balance. HO can result from hypothalamic lesions, genetic causes like Prader-Willi syndrome or mutations in genes related to the leptin/melanocortin pathway. This condition is marked by intense hunger, eating disorders, cognitive and behavioral challenges, and metabolic issues, greatly affecting quality of life and health. Currently, no specific treatments exist, making early diagnosis and better understanding of HO critical for improving care and developing new therapies. The study focuses on characterizing the natural history of HO, including obesity progression, eating behaviors, physical activity, sleep, nutrition, and related metabolic and neuropsychological factors. It aims to identify patient profiles to personalize care and select candidates for clinical trials of emerging treatments targeting pathways like melanocortin. Management today mainly involves behavioral support for eating habits and physical activity, with caregivers playing a key role in controlling food access and providing structured diets. Participants will be monitored over time for obesity onset and progression, with assessments of eating behavior, metabolic health, and neuropsychological status. The study collects data to improve early diagnosis, understand prognosis, and guide innovative treatments for these complex obesity cases. The involvement includes genetic testing and long-term follow-up to track health outcomes and response to therapies, aiming to enhance medical management and quality of life for people with hypothalamic obesity.

Nephronophthisis (NPH) is a genetic kidney disease caused by mutations in over 20 genes, including NPHP1 and NPHP4. This condition leads to reduced urine concentration, chronic kidney inflammation, and often progresses to kidney failure before age 20. NPH can appear alone or with other symptoms affecting the eyes, brain, skeleton, and organ positioning, all linked to problems with cell structures called cilia. Currently, no effective treatments exist for NPH, but researchers are studying the proteins and pathways involved to find new therapeutic options. The research focuses on identifying specific therapeutic targets for NPH and related kidney ciliopathies. The study involves laboratory work to understand how approved drugs might correct defects in cells with NPHP mutations. This approach aims to find ways to bypass challenges in delivering proteins or mRNA directly to kidney cells and could help develop treatments applicable to many different NPHP gene mutations. Participants include patients with NPH or related ciliopathies, their healthy relatives, and control groups without kidney disease or with other chronic kidney diseases. Over three years, researchers will collect urine-derived kidney cells to confirm potential therapeutic targets. The study assesses cell defects, drug effects, and other biological measures to better understand and treat NPH and similar disorders.