The purpose of this study is to create a de-identified, public use,
repository of data of Chronic Obstructive Pulmonary Disease (COPD)
patients with by Alpha-1 antitrypsin deficiency (AATD), a rare genetic
condition that can cause COPD and emphysema.

Transcranial magnetic stimulation (TMS) is a non-invasive brain stimulation method often used to assess connectivity between the brain and specific muscles. This research study is aimed at finding the changes in the manner brain communicates with leg muscles post-stroke and its effects on movement coordination during walking.

Smell loss has been reported in more than 50% of older adults. Currently there are no validated methods for classifying patients with smell loss in aging based on either disease site or process. This study aims to better understand how age affects the sense of smell. This study will involve those 50 and older and will take up to 5 years, with 5 follow up annual visits, or can be done remotely.

The main objective of this project is to develop a quick and efficient screening instrument to accurately identify individuals with olfactory dysfunction (from all causes of olfactory dysfunction). We hope to systematically develop an olfaction screening instrument that is highly correlated to objective olfaction, as currently, this does not exist. Our overall hypothesis is that we can reliably predict an abnormal objective olfaction score using the screening instrument we develop.

The goal of this cohort and biorepository is to collect data and blood specimens on individuals with Nontuberculous Mycobacteria (NTM), pulmonary disease, and healthy adults to better understand the illness and ultimately improve the care and survival of those with these conditions.

This study will examine the neural circuitry associated with craving, behavioral disinhibition, and threat-reactivity. The study will involve 2 visits. During the first visit, participants will complete questionnaires and interviews in a private room and do some tests to measure alcohol use. During the second visit, participants will complete a neuroimaging scan of their brain.

The goal of this study is to develop an early systemic sclerosis (SSc) registry in the United States (US). A registry is a group of patients that are observed over time. This is a non-interventional study, meaning that they are no study specific medications to take or procedures to undergo. The specific aims include ongoing assessment of the natural history of early SSc patients by capturing and analyzing clinical data, patient reported outcomes, and laboratory data as seen in the clinic as part of their routine care needs. Additional study visits are not required. This is a multi-center study with sites spread across the U.S. This study is funded by the Scleroderma Research Foundation.

Transforming health care and outcomes for children with rare diseases is difficult within the current health care system. There is great variation in care delivery, inadequate and slow application of existing evidence, and ineffective use of available data to generate new knowledge. Individual care centers have inadequate numbers of patients for robust learning and improvement. In order to redesign the system, changes must take place at multiple levels, including the patient and family, clinician, practice and the network. The purpose of this project is to design, develop, and test further refinements to an improvement and research network focused on HLHS, the most severe congenital heart defect, and to use a registry to simultaneously improve clinical care, redesign care delivery systems and to conduct quality improvement, health services, outcomes, and comparative effectiveness research. The purpose of this initiative, specifically, is to improve care and outcomes for infants with HLHS by: 1) expanding the established NPC-QIC national registry to gather clinical care process, outcome, and developmental data on infants with HLHS between diagnosis and 12 months of age, 2) improving implementation of consensus standards, tested by teams, into everyday practice across pediatric cardiology centers, and 3) engaging parents as partners in improving care and outcomes. We utilize a quality improvement methodology, known as the adapted learning collaborative model, which expedites the implementation of tools and strategies that facilitate changes such as systematic care coordination, cardiovascular monitoring, and nutritional monitoring into every day practice. The NPC-QIC registry is used to document the impact of these changes on various care processes and outcomes (e.g., mortality rate, readmissions, and weight gain).