The purpose of this research is to better understand balance and walking in patients with normal pressure hydrocephalus. Balance and walking problems in patients with normal pressure hydrocephalus do not respond well to the typical medication treatments. This research study uses small wearable devices that attach to your clothing and can measure your body’s location while performing walking and balance tests.

The effect of enzyme replacement therapy on how well your kidneys are responding to enzyme replacement therapy (ERT) is not clear from blood and urine tests alone, but may be more clear in comparisons of kidney biopsies performed before and some time after ERT has been initiated, and this is what we are focusing our study efforts on. The purpose of this study is to obtain your permission to allow us to study the kidney biopsy tissues (collected for medical reasons) after the regular routine studies have been completed. Through our special research measurements and additional study, we hope to be able to see and measure very specific changes in the kidney tissues from Fabry patients taking ERT. We also hope that through these studies of what happens within the kidney before and after starting ERT, we are able to reveal valuable information about the importance of factors like your age that you started ERT, the amount or dosage of ERT, and any differences seen between males and females.

This research study is for participants who have an inherited neuromuscular disorder or neurogenetic disorder, or family members who are unaffected by such disorders

This registry will be used to gather specific information about patients diagnosed with a degenerative spine disorder. Patient registries are observational studies that focus on understanding how the treatments, tests, and services, that are used in routine clinical care and by specialists, affect patient health outcomes. A registry that is appropriately designed, conducted, and analyzed will provide unique scientific information about the effectiveness, safety, and quality of the health-care service or intervention that is being studied.

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

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.

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.

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.