View clinical trials related to Genetic Diseases, Inborn.
Filter by:Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
The understanding, utilization and uptake of Family Health History is essential to the prevention of health disparities in the African American community. Creating a culturally tailored Family Health History tool, co-developed by members of the African American community will inform, educate and empower African Americans about health issues related to their family genealogy. Applying the knowledge gained via Family Health Histories to increase preventative behaviors including screenings thus linking people to needed health services to prevent the onset of disease and illness.
This is a single-dose, open-label study in pediatric participants with TDT. The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) (CTX001).
Manual wheelchairs (MWCs) are widely used by children with physical disabilities, yet many of these children are unable to use their wheelchair independently. Instead, they depend on others to push them. This dependency results in limited opportunities to decide what they want to do and where they want to go, leading to learned helplessness, social isolation, decreased participation, and restricted involvement in physical activities. Furthermore, unsafe MWC use increases the risk of injury, as highlighted by the 44,300 children treated each year in emergency departments for MWC-related injuries. While independent MWC mobility can positively influence quality of life, MWC skills training must also be provided to promote safe, independent MWC use. The effectiveness of MWC training programs for adults is well established, yet the current standard-of-care does not include MWC skills training for children and research regarding the efficacy of pediatric MWC skills training programs is limited. Skills on Wheels seeks to address these gaps and provide pilot data for a future large-scale, multi-site research project involving a randomized controlled trial. Aim 1 is to explore the influence of Skills on Wheels on children's MWC skills and confidence in their MWC use. Aim 2 is to investigate the influence of Skills on Wheels on children's psychosocial skills, social participation, and adaptive behavior.
The MetaPrint study aims to characterize the metabolic fingerprint of genetic diseases in order to enhance knowledge on the physiological disease status and establish so new tools for diagnosing, monitoring and personalizing treatment of genetic diseases.
Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.
The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. The investigators will conduct a prospective study, with diverse and underserved participants, across ten eMERGE study sites to evaluate clinical implementation of a Genome Informed Risk Assessment (GIRA) tool that combines genetic, family history, and clinical risk information from participants.
Development of a new patient reported outcome measure (PROM) that will measure the daily burden of gastrointestinal symptoms over the previous 24 hour period for people with cystic fibrosis.
The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational interview. Primary study outcomes include knowledge of FH, as well as clinical and patient-reported outcomes. This study aims to promote optimal disease management and improve outcomes of FH patients.