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The Validation of Minimally Invasive Oxygen Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomar…
Identification of Novel Genetic Variants and Biomarkers of Disease Progression in Arrhythmogenic Cardiomyopathy
Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sud…
Cord Blood Transplantation in Children and Young Adults With Hematologic Malignancies and Non-malignant Disorders
This is a single-arm study to investigate 1-year treatment related mortality (TRM) in patients with life threatening non-malignant and malignant hematologic di…
Natural History of Familial Dysautonomia
The study will collect clinical information from patients with FD and allow them to give blood to help develop biological markers of the disease to aid diagnos…
The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2…
Efficacy and Safety of Pozelimab and Cemdisiran Combination Therapy in Patients With Sporadic Inclusion Body Myositis
To evaluate the efficacy of Pozelimab/Cemdisiran combination therapy in patients with sIBM
Center Without Walls for Imaging Proteinopathies With PET (CW2IP2): Phase I Pilot Study of Biodistribution, Metabolism, Excretion and Brain Uptake of 11C-HY-2-15
The current protocol is to determine the biodistribution, metabolism, excretion and brain uptake of 11C HY-2-15. The goal of this radiotracer is to quantify al…
Convenient Quantification of Myopathic Change in Muscle Via Electrical Impedance Myography
This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic reso…
Slow-SPEED: Slowing Parkinson's Early Through Exercise Dosage
The goal of this clinical trial is two-fold. First to investigate the feasibility of whether a remotely administered smartphone app can increase the volume and…
Feasibility Testing of a Tai Chi Program for Chemotherapy-Induced Peripheral Neuropathy Treatment (TCT)
This research is being done to determine whether a 12-week virtual Tai Chi training program, designed to improve balance and small nerve fiber function, is fea…
Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
Patterns of Disease, Outcomes and Treatment Response in Children With Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies…