Lexington

Researchers are investigating Angelman syndrome (AS) in children and adults who have a confirmed genetic diagnosis of the condition. This observational study aims to understand how developmental skills like communication, motor abilities, and adaptive behaviors change over a one-year period. It also looks for specific patterns in brain activity and sleep that may be linked to changes in AS symptoms over time, contributing valuable data to help design future clinical trials and develop better diagnostic tools and treatments. Participants will attend up to five in-person visits over 12 months, roughly every three months, at weeks 0, 13, 26, 39, and 52. During these visits, they will undergo standardized assessments to track adaptive behavior, communication, challenging behaviors, general health, disease severity, and common related conditions such as epilepsy and sleep disturbances. Brain activity will be monitored using electroencephalograms (EEGs), and sleep patterns will be recorded at home with a wearable device measuring actigraphy data. Throughout the study, participants and their caregivers will complete tests and questionnaires about development, behaviors, and sleep. Researchers will evaluate changes in cognitive, communication, and motor skills using the Bayley Scale of Infant Development, Fourth Edition, at multiple time points. Safety and health status will be monitored, and the study partner will provide ongoing information about the participant's condition. This comprehensive approach aims for a deeper understanding of AS over the year-long observation period.

Researchers are establishing a network of hospitals, laboratories, academic institutions, and healthcare organizations to provide annotated biospecimens for various types of medical research and education. These biospecimens will support studies in biomarker discovery and validation, diagnostic test development, therapeutics research, and training for researchers and physicians. The study includes participants who may be healthy or have medical conditions such as cancer, autoimmune diseases, or infectious diseases. Participants may provide remnant biospecimens originally collected for clinical testing or specimens collected specifically for research. The level of involvement by each institution depends on the types of specimens available, such as biofluids, tissues, or cells. Potential participants are identified during clinical care or through outreach, and if eligible, they may be asked to provide biospecimens according to research needs. These specimens may be distributed to academic, clinical, and commercial researchers and could be used for genetic testing, cell line development, cryopreservation, or educational purposes. Participants may undergo minimal risk screening activities as part of the study, including health assessments through medical record reviews, clinical exams, or updated medical histories. Consent is obtained from participants or their guardians when applicable. The primary outcome involves the collection of biospecimens for novel research uses over a 10-year period. Researchers will monitor specimen collection, distribution, and usage, ensuring broad research and educational applications while maintaining participant safety.

Researchers are conducting a study to better understand various health conditions including lupus, celiac disease, kidney disease, and dermatologic conditions, as well as healthy individuals. The study aims to connect participants who have specific health profiles with scientific researchers seeking new diagnostics and treatments, accelerating medical discovery through patient involvement. This research also supports broader medical progress through surveys, interviews, and other minimal risk activities. Participants will be observed without any intervention, as this is a non-interventional, observational study. The study collects health data, lifestyle information, biological samples, and participant feedback, which are then shared with qualified research partners. Participants may be involved in minimal risk research activities desired by life science organizations. During the study, participants provide biospecimens and health data, and may complete interviews or surveys. Researchers will monitor participants for up to 10 years to identify biomarkers and track health outcomes. The study requires participants to comply with study procedures and remain available throughout the study duration, ensuring ongoing data collection and safety monitoring.

The Gaucher Outcomes Survey (GOS) is an ongoing international registry that collects long-term information about patients with Gaucher Disease, regardless of their treatment status or type. This observational study aims to better understand the natural history of Gaucher Disease, evaluate the safety and long-term effects of treatments like velaglucerase alfa, and support evidence-based management of the condition in real-life clinical practice. No experimental treatments are given as part of the study. Patients continue their usual care as directed by their own doctors. The registry gathers data from multiple centers worldwide and includes patients receiving velaglucerase alfa or other Gaucher Disease-specific therapies. Enrollment was temporarily paused due to the COVID-19 pandemic but has since resumed in some locations. Participants undergo clinical assessments and receive routine care determined by their physicians. Researchers monitor various outcomes over time, such as treatment-related side effects, infusion reactions, changes in hemoglobin and platelet levels, liver and spleen size, and bone mineral density. These measures are tracked from baseline up to one year and may continue for up to 20 years to understand long-term safety and effectiveness.

Researchers are studying how certain drugs given to children and young adults by their health care providers behave in their bodies. The goal is to find the safest and most effective doses for these younger patients. This research focuses on drugs that have not been extensively studied in children but are currently prescribed as part of standard care for various conditions including infections, heart issues, respiratory problems, and more. The study collects bodily fluid samples like whole blood and other effluents from children and young adults who are prescribed these drugs by their doctors. The drugs are given as part of regular treatment, not as part of the study itself. Data collection for pharmacokinetic (PK) measures such as clearance, volume of distribution, elimination rate, half-life, absorption rate, area under the curve, maximum concentration, and time to reach maximum concentration will occur for up to 90 days after consent, with up to 210 days for participants with Down Syndrome at designated sites. Participants will be involved through sample collection and monitoring over the study period. Researchers will assess how the drugs are processed in the body using blood and fluid samples. The study includes children from birth up to 20 years old and involves safety and drug behavior evaluations. This detailed monitoring helps understand the drugs’ effects and supports safer dosing guidelines in pediatric care.