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Researchers are conducting an observational study to understand how Angelman syndrome AS progresses naturally in children and adults who have a confirmed genetic diagnosis. The study focuses on changes in developmental skills like communication, motor abilities, and adaptive behaviors over one year. It also explores specific brain activity and sleep patterns that may be linked to changes in AS symptoms. This study aims to gather important data that can help improve future clinical trials and develop better diagnostic tools and treatments for AS. Participants will attend up to five visits over 12 months, approximately every three months, where they will undergo various assessments. These include standardized tests and questionnaires about their development, behaviors, and sleep, with caregiver assistance. Participants will have electroencephalograms EEGs to record brain activity and wear a sleep-monitoring device at home to collect actigraphy data. The study includes three cohorts based on age children and adolescents aged 1 to 17, a focused group of children aged 1 to 12, and a small adult group aged 18 and older. Throughout the study, participants will complete developmental and behavioral assessments at baseline and every three months to measure changes in cognitive, communication, motor, and adaptive behavior skills. Researchers will also track common co-occurring conditions such as epilepsy and sleep problems. Data from EEGs, actigraphy, and questionnaires will be analyzed to understand age-related changes and symptom patterns. The total participation time is one year, with regular monitoring and evaluations to capture the natural history of AS.

Researchers are evaluating the efficacy and safety of NNZ-2591 compared to a placebo in children aged 3 to 12 years with Phelan-McDermid Syndrome, a genetic condition caused by an abnormality of the SHANK3 gene. This Phase 3, randomized, double-blind, placebo-controlled study aims to assess how NNZ-2591 affects symptoms and adaptive behaviors in pediatric participants. Participants first enter a 4-week screening period to confirm eligibility and assess symptom severity. Those eligible are randomly assigned to receive either NNZ-2591 or a matching placebo, both administered orally twice daily, over a 13-week treatment period. After treatment, there is a 2-week safety follow-up to monitor participants. During the study, participants undergo various assessments including the Phelan-McDermid Syndrome Assessment of Change PMSA-C and the Vineland Adaptive Behavior Scales-3 to measure communication and behavior changes. Caregiver impressions and clinical ratings are also collected. The total time commitment for participants is about 17 to 19 weeks, including screening, treatment, and follow-up periods.

Researchers are studying the long-term safety and tolerability of KarXT and KarX-EC in adolescents with schizophrenia and children and adolescents with autism-related irritability. This Phase 3, open-label study evaluates these treatments to better understand their effects over extended periods in these young populations. The trial is led by Karuna Therapeutics, Inc., a Bristol Myers Squibb company. Participants receive KarXT as the study drug, with dosing specified on certain days. The study includes two groups adolescents aged 13 to 17 years with schizophrenia receiving KarXT alone, and children and adolescents aged 5 to 17 years with irritability associated with autism spectrum disorder receiving KarXT combined with KarX-EC. The treatment period extends up to 54 weeks, during which safety and tolerability are closely monitored. During the study, participants are regularly evaluated for treatment-emergent adverse events, serious adverse events, and adverse events of special interest. Additional assessments include monitoring for procholinergic and anticholinergic symptoms, suicidal ideation and behavior, and movement disorders using validated rating scales. The total participation duration spans up to 54 weeks, encompassing treatment and observation to track long-term effects and safety outcomes.

This research aims to evaluate the long-term safety, tolerability, and effectiveness of NNZ-2591 in children with Phelan-McDermid Syndrome. It is a Phase 3, open-label extension study involving pediatric participants who have previously taken part in related studies. The study focuses on assessing how NNZ-2591 affects symptom severity and overall health over an extended period. Participants will receive NNZ-2591 orally twice daily during a 52-week treatment period. Before starting treatment, eligibility will be confirmed through assessments including baseline characteristics and symptom severity. After completing the treatment phase, participants will enter a 2-week safety follow-up to monitor any ongoing effects or side effects. Throughout the study, participants will undergo various evaluations including clinical assessments, ECG monitoring, laboratory tests, and symptom severity scales. Safety and tolerability will be measured by tracking adverse events, vital signs, and laboratory results. Efficacy will be assessed using standardized tools such as the Phelan-McDermid Syndrome Assessment of Change and Vineland Adaptive Behavior Scales. Overall participation may last up to 56 weeks.

Researchers are creating a network of hospitals, labs, academic institutions, and healthcare organizations to provide annotated biospecimens for various types of medical research and education. These biospecimens will be used for biomarker discovery, diagnostic test development, therapeutics research, and training of researchers and physicians. Participants may be healthy or have medical conditions relevant to ongoing research needs. The study involves collecting remnant specimens originally obtained for clinical testing or specimens collected specifically for research, including biofluids, tissues, and cells. Participants may be identified during clinical care or recruited through outreach programs. Biospecimens may be distributed to various research entities such as academic institutions and companies for diverse research uses, including genetic testing, cell line development, and long-term storage. Participants may undergo minimal risk screening activities and provide biospecimens as needed. The research team will collect data over a 10-year period to support novel research uses. Biospecimens may be used for multiple research and educational purposes, including training laboratory technicians and physicians. The study includes participants aged 1 to 89 years and involves assessment of health status through medical record reviews and clinical exams when blood collection is needed.

Researchers are conducting an observational study to gather health data, lifestyle details, biological samples, and participant feedback. The goal is to connect people with specific health profiles to scientific researchers looking for new diagnostics and treatments for various conditions like lupus, celiac, and dermatologic diseases. This study aims to speed up medical discovery by linking patient participation with research efforts. Participants in this study will not receive any treatments, as it is non-interventional and observational only. People may be healthy or have certain health conditions. They will be invited to join specific projects based on the needs of each research study. The study collects de-identified health data and biospecimens over time to support medical research. During the study, participants will provide samples and information through surveys, interviews, and other minimal risk activities. Researchers will monitor biological markers over a period of 10 years to identify important health indicators. Participants need to comply with study procedures and remain available throughout the study, which runs until 2036. The study focuses on safety and privacy while advancing medical knowledge.

The Gaucher Outcomes Survey GOS is an ongoing international observational registry for patients diagnosed with Gaucher Disease, regardless of their treatment status or type of treatment they receive. The registry aims to collect long-term data to better understand the natural history of Gaucher Disease and to evaluate the safety and long-term effectiveness of treatments like velaglucerase alfa. This study also seeks to provide a database to support evidence-based management of Gaucher Disease in real-life clinical settings. Participants in GOS are not given any experimental treatments as the study is observational. Patients undergo clinical assessments and receive care as determined by their own treating physicians. Enrollment was temporarily paused in some locations due to the COVID-19 pandemic but has since resumed in several countries. The registry includes patients of all ages and treatment types, tracking their health outcomes over many years. During the study, participants undergo regular clinical evaluations to monitor various health measures such as adverse events, infusion-related reactions, hemoglobin levels, platelet counts, liver and spleen volumes, and bone mineral density. These outcomes are followed from baseline through one year and can continue for up to 20 years. The long-term collection of data helps researchers understand treatment effects and disease progression in real-world practice while ensuring ongoing safety monitoring.

Researchers are studying how drugs given to children and young adults by their healthcare providers work in their bodies. The goal is to find the safest and most effective doses of these understudied drugs currently used as part of standard care. This observational study focuses on children up to 20 years old, including those who are SARS-CoV-2 positive, across various medical conditions. Participants are observed while receiving their prescribed drugs as part of their routine medical care. The study collects bodily fluid samples, such as whole blood and effluent samples, to measure how the drugs are processed in the body. Data collection lasts up to 90 days from consent, with an extended period of up to 210 days for participants with Down Syndrome at designated sites. During the study, participants will have samples taken to measure drug clearance, volume of distribution, elimination rate, half-life, absorption rate, area under the curve, maximum concentration, and time to maximum concentration. These measurements help researchers understand the pharmacokinetics and safety of the drugs. The study is sponsored by Duke University and participation may last several months depending on individual factors.

Researchers are studying how prednisone affects adult males with an immune-mediated subtype of autism spectrum disorder ASD. The trial aims to understand prednisones impact on core ASD features and associated symptoms, evaluate its safety by monitoring side effects, and determine if further studies of anti-inflammatory drugs in this population are warranted. Participants are autistic adult males diagnosed with moderate to severe ASD. The study randomly assigns participants to receive either prednisone or a placebo daily for 16 weeks. The prednisone treatment includes three phases dose escalation during Weeks 1 to 5, optimal dose maintenance from Weeks 6 to 10, and gradual dose reduction from Weeks 11 to 16. Participants will attend up to five in-person visits, including screening, baseline, Week 5, Week 10, and a follow-up at Week 20 after stopping the treatment. Additionally, eight remote calls will be conducted for dose adjustments and checkups. Participants will provide blood and urine samples up to four times for safety and biomarker testing. They will complete questionnaires, keep a daily diary of medication intake and symptoms, and undergo clinical assessments during clinic visits. The main outcome measured is the difference in clinical global impression improvement ratings between prednisone and placebo groups after 10 weeks. Safety and treatment adherence are monitored throughout, with study participation lasting about 20 weeks including follow-up.