This is a multi-center, prospective, observational cohort registry study looking at kids and their relatives with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).

This study will investigate neural mechanisms underlying the enhancement of rigidity with an activation maneuver (contralateral voluntary movement such as hand tapping) in people with Parkinson's disease. Rigidity will be measured using a custom robotic manipulandum while neural activity will be assessed using EEG and TMS protocols.

The purpose of this project is to evaluate motor system neuroplasticity and brain structure and function in people with Rapid Eye movement (REM) sleep behavior disorder (RBD) and healthy control participants. Our general hypothesis is that people with idiopathic REM sleep behavior disorder (RBD) will show abnormalities in motor cortical plasticity and alterations in structural and function connectivity that are consistent with changes observed in early Parkinson’s disease (PD).

The purpose of this project is to develop and test a novel non-invasive brain stimulation protocol, using transcranial magnetic stimulation (TMS), that will allow reliable examination of cortical-brainstem motor pathways in humans.

Humanitarian use devices are medical devices approved by the FDA for the treatment of medical conditions affecting fewer than 4,000 patients per year. The FDA reviewed the safety of the device and determined that the probable health benefits outweigh the risks of injury or illness from its use. Effective treatment of symptoms, however, has not been studied in formal clinical trials. Medtronic DBS Therapy delivers electrical stimulation to areas in the brain to help control symptoms of various movement disorders. You may be a candidate for Medtronic DBS Therapy for Dystonia if you have been diagnosed with chronic, intractable (drug refractory) primary dystonia. You or your third party payer (health insurance, Medicare, Medicaid or other) must provide payment for hospital, office and other medical costs related to this therapy.

The goal of this study is to identify food and body images that may cause strong emotional responses among individuals with eating and weight-related concerns. Specifically, the researchers are looking to identify a set of food images and body images that can be used in future research studies to examine differences in emotion-based reactions between individuals with and without eating disorder symptoms. Ultimately, this knowledge may help us better understand food and body-related emotional processes that might contribute to eating disorder attitudes and behaviors.

The International Registry of Aortic Dissection (IRAD) was created in 1996 by cardiovascular specialists committed to expanding current knowledge of aortic dissection with the goal of improving patient outcomes. This registry study uses a standardized form to capture data from consecutive patients with aortic dissection at participating hospitals.

We are studying the brain patterns of people who have anorexia nervosa and those who don't have anorexia nervosa. We will look at MRIs, behavioral measures, and questionnaires to see if we can identify the brain activity associated with disgust. There will be a follow-up at 6 and 12 months.

The objective is to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with acute and cutaneous porphyria.

This is a prospective, non-interventional, research study for patients with IBD under the care of a certified gastroenterologist. The primary objective for this registry is to prospectively study the natural history of IBD, the prevalence and incidence of comorbidities, targeted adverse events, and more, via questionnaires.

We are studying a new phone app, UrApp, for parents (or caregivers) to use when managing the care of children who have been diagnosed with nephrotic syndrome in the last six weeks. We will look at medication and urine monitoring with two groups; one will use the app, the other will have usual care. Study participation will last for one year.

This study is comparing the benefits and adverse effects of two delivery methods to help patients relax and decrease anxiety during his/her time on mechanical ventilation. This study is not examining the medication but rather the process of how the patient receives the sedation medication: patient controlled or usual care.

The purpose of this research project is to develop a registry and database of families with neurodevelopmental disorders.

We are looking at measures of frailty (including an assessment questionnaire and other data from the medical record) and the relationship to outcomes from cardiac or vascular surgery. The questionnaire will take about 10 minutes to complete and we will contact you by phone once every three months for one year after your surgery.

Background: Distal radius fractures (DRF) account for nearly one-fifth of all fractures in older adults, and women experience them 5x as often as men. Most DRF occur with low impact injuries to the wrist with an outstretched hand, and are often managed via closed treatment and cast immobilization. Women sustaining a DRF are at risk for upper limb immobility, sensorimotor changes, edema and type I complex regional pain syndrome (CRPS). Since CRPS onset is likely influenced by alterations in the brain’s somatosensory region, a rehabilitation intervention, Graded Motor Imagery (GMI), aims to restore cortical representation, including sensory and motor function, of the affected limb. To date, there are no studies on the use of GMI in reducing risk of or preventing the onset of type I CRPS in women with DRF treated with cast immobilization. Due to a higher likelihood of women with this injury developing type I CRPS, it is important to early intervention is needed. Methods/Design: This article describes a six-week randomized comparative effectiveness trial, where the outcomes of a modified GMI program (mGMI) + standard of care (SOC) group (n=33) are compared to a SOC only control group (n=33). Immediately following cast immobilization, both groups participate in four 1-hour clinic-based sessions, and a home program for 10 minutes three times daily until cast removal. Blinded assessments occur within 1 week of cast immobilization (baseline), at three weeks post cast immbolization, cast removal, and at three months post cast removal. The primary outcomes are patient reported wrist/hand function and symptomology on the Patient Rated Wristand Hand Evaluation, McGill Pain Questionnaire, and Budapest CRPS Criteria. The secondary outcomes are grip strength, active range of motion as per goniometry, circumferential edema measurements, and joint position sense. Discussion: This study will investigate the early effects of mGMI + SOC hand therapy compared to SOC alone. We intend to investigate whether an intervention, specifically mGMI, used to treat preexisiting pain and motor dysfunction might also be used to mitigate these problems prior to their onset. If positive effects are observed, mGMI + SOC may be considered for incorporation into early rehabilitation program.

The Syner-G regimen research study seeks to evaluate the use of a combination of a medication called miglustat and a ketogenic diet for treatment of the gangliosidoses to learn if this combination will provide improved clinical outcomes compared to what we currently know about the natural course of the disease.

This is a research study documenting the natural history of disease in patients with GM1 or GM2 gangliosidosis. The information collected will be a way to evaluate disease progression and create a disease stage and severity index. Our goal is to use the data collected to measure the effectiveness of any treatments that are developed in the future.

We are hoping to understand more about how being in the ICU impacts children who use breathing support at home and their families. As part of this research study, families will be asked to complete the following during the four study periods: - Complete questionnaires - Airway oscillometry will be used to test your child’s breathing - Complete short daily surveys

To evaluate the efficacy and safety of iptacopan compared to placebo in patients with idiopathic immune complex mediated membranoproliferative glomerulonephritis (IC-MPGN)

The study will test dordaviprone (also known as ONC201), a new drug that is being developed for treating people with glioma. ONC201 may help to remove tumor cells without affecting normal cells of the body. ONC201 is a first-in-class drug, which means it is a new drug having unique action.

This research is being done to collect blood and placenta samples to better understand how pregnancy impacts the health of mother and child. The goal of this research is to better understand what causes some pregnancy complications and how this impacts the longer term health of mothers and children.

We know that patients who have undergone a solid organ transplant are known to be at higher risk for severe influenza infections and may not develop a robust antibody response to a single dose of the influenza vaccine. The purpose of this study is to better understand the body’s response to two doses of the high-dose influenza vaccine compared to one dose during an influenza season.