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Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
Purpose: The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined...
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Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis
Background: - Vasculitis is a group of diseases that inflame and damage blood vessels and tissue. It can cause many medical problems. Few tests can diagnose the disease, and none can reliably predict a relapse. Researchers want to study people s genes and follow people over time to see how the disease affects them. Objective: - To learn the signs, symptoms, imaging tests, genetic markers, and blood tests that can help identify people with vasculitis and predict what will happen to them over time. Eligibility: - People age 3 and older who have or are thought to have vasculitis, or are related to someone with it. - Healthy...
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Study Comparing Local/ MAC Anesthesia in Lumbar Decompression
Explore efficacy, complications, and other factors associated with anaesthetic choice- To evaluate the efficacy of local + MAC as an alternative anesthetic to general anesthesia and to analyze patients' outcomes and experiences.
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Study Evaluating SC291 in Subjects With Severe r/r B-cell Mediated Autoimmune Diseases (GLEAM)
SC291-102 is a Phase 1 study to evaluate SC291 safety and tolerability, preliminary clinical response, cellular kinetics and exploratory assessments for subjects with severe autoimmune diseases.
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Studying Melatonin and Recovery in Teens
The goal of this feasibility clinical trial is to learn if melatonin can help teens having major musculoskeletal surgery by promoting healthy sleep. Melatonin is available as a dietary supplement that may be effective in promoting longer, higher quality sleep. This study will assess the feasibility and acceptability of melatonin for teens undergoing major musculoskeletal surgery, as well as determine optimal measured outcomes (sleep, pain, health-related quality of life) at short- and long-term follow-up.
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Study of 3D Scanning for Adolescent Scoliosis
The investigators aim to validate three-dimensional topographical scanning technology as a tool for evaluation of scoliosis. Through the incorporation of 3D topographical technology in the measurement of deformity, the investigators hope to validate a novel approach to quantify deformity progression and provide an accessible alternative to traditional radiographic workup.
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Study of Alkaptonuria
The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques. Patients with alkaptonuria who are at least two years of age may be eligible...
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Study of an Intrathecal Port and Catheter System for Subjects With Spinal Muscular Atrophy
The primary objective of the clinical investigation is to demonstrate successful clinical use of the ThecaFlex DRx™ System in delivering nusinersen in subjects with spinal muscular atrophy (SMA). All enrolled subjects will undergo implantation of the investigational device (ThecaFlex DRx™ System) and will be followed for 12 months after receiving the implant. The 12-month data will be used to assess the primary endpoint support a Pre-Market Approval (PMA) application.
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Study of Dapansutrile Tablets in Subjects With an Acute Gout Flare
The purpose of this trial is to investigate the efficacy and safety of dapansutrile (OLT1177®) tablets in subjects with an acute gout flare.
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Study of Edecesertib in Participants With Cutaneous Lupus Erythematosus (CLE)
The goal of this clinical study is to test how edecesertib (formerly known as GS-5718) can be useful in treating Cutaneous Lupus Erythematosus (CLE) in participants with CLE. Information on what is happening in the body relating to CLE, how the body processes, is affected by and responds to the study drug, and any study drug side effects will also be collected in this study.
