Background: - The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses. Objective: -To see what happens to people with melorheostosis over time and understand the causes of the disease. Eligibility: - People 18 and over with melorheostosis. - Their unaffected relatives. Design: - All participants will have a medical history and physical exam. - Participants who are relatives will give samples of blood or cheek cells. - Other participants will be in the study for about 1 week. - They will have blood and urine collected. - Strength, walking, and range of motion will be measured. - Participants may also have - X-rays and scans. - A pain and neurological evaluation. - Their skin evaluated by a dermatologist. - A small sample of bone taken. - Nerve conduction studies. Small electrodes with to wires will be put on the skin. A metal probe will give a small electrical shock. - Electromyography. A thin needle will be placed into the muscles. - An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound probe will be placed over the skin. - A bone scan. They will get a small amount of radioactive fluid through a needle in an arm vein. This fluid travels to the bones. The bones will be photographed in a machine. - Bone Densitometry, a low-level x-ray. - Photographs taken. - A small circle of skin removed with a surgical instrument. - Questionnaires about their quality of life. - Participants will be asked to return about every 2 years. At these visits, participants may have blood and urine tests and x-rays.

Type: Observational

Start Date: Aug 2015

open study

Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.

Type: Observational

Start Date: Sep 2015

open study

As the U.S. population ages, future physicians must be prepared to care for older adults with multiple health conditions and complex needs. This study will test whether cinematic virtual reality (VR)-an immersive, interactive learning tool-is more effective than traditional lectures in helping medical students learn about geriatric care. Students who complete the VR training will experience realistic patient scenarios that show what can go wrong in medical care and learn how to apply osteopathic principles to improve outcomes. Researchers will compare students' performance on a clinical skills assessment and explore their experiences with the VR training. The goal is to determine whether cinematic virtual reality can better prepare students for residency and improve their ability to provide compassionate, high-quality care for older adults.

Type: Interventional

Start Date: Apr 2026

open study

This study will provide longitudinal data for 6-months on a target sample of patients with Opioid Use Disorder (OUD) recruited from Prisma Health Mobile Health Clinics in South Carolina. The goal of our study is to increase OUD treatment initiation and retention and maximize prevention of overdose deaths in underserved communities through development, testing, and delivery of a novel intervention targeting areas of optimal allocation of MHC with a Peer Support Specialist (PSS) intervention.

Type: Interventional

Start Date: Apr 2026

open study

We believe that the design of the Optrell™ mapping catheter with TRUEref technology allows for faster and more accurate mapping not only due to narrow electrode spacing but also due to the ability to achieve simultaneous contact of multiple bipoles with the surface of the papillary muscle. Simultaneous mapping of multiple sites on the same surface will allow operators to appreciate small activation differences that typically exist between neighboring sites during papillary muscle ventricular arrhythmias. In addition, the position of the Optrell™ mapping catheter on the papillary muscle allows the mapping catheter to move with the papillary muscle rendering a more accurate allocation of the activation time to the surface of the papillary muscle. We also believe that optimal positioning between the Optrell™ mapping catheter and papillary muscles can be assisted by using intracardiac echocardiography. The goal of the study is to explore the utility and superiority of a specific mapping catheter, the Optrell™ mapping catheter with TRUEref.

Type: Observational

Start Date: Dec 2024

open study

This prospective, interventional trial is intended to determine the safety and effectiveness of the Variable Compression System (VCS) device for Irritable Bowel Syndrome (IBS). This pilot study will enroll 20 subjects who will be required to wear the VCS device for a minimum of 6 hours a day and follow up at 21 days, 8 weeks, and 6 months post-device administration.

Type: Interventional

Start Date: May 2025

open study

The purpose of this study to find out whether mirdametinib is a safe and effective treatment for Central Nervous System/CNS tumors (glioma and neurohistiocytosis).

Type: Interventional

Start Date: Apr 2026

open study

The goal of this pilot clinical trial is to learn if a community referral program can improve services for youth with mental health and chronic health conditions in a predominantly Native Hawaiian and Pacific Islander community. The main questions the trial aims to address are: - What is the best way for a community health center to connect youth with community programs rooted in cultural practices and traditions? - Does participation in community programs engage youth and mental health and chronic health outcomes? Participants will: - Participate in a community program for youth that will strengthen connection to 'āina (land) and culture. Programs in the summer are 5 hours per day, 4 days a week, for 4 weeks. Programs in the school-year are 2.5 hours per day, 2 days a week, for 16 weeks. - Take surveys on their demographics, general well-being, mental health, and chronic health conditions they may have at 4 different times: Before the program begins, immediately after the program finishes, 3-4 months after finishing, and 6-8 months after finishing. - Have an adult family member complete surveys on their youth's demographics and general well-being at the same 4 times

Type: Interventional

Start Date: Apr 2026

open study

The goal of this randomized clinical trial is to build the evidence base for SUPERCEDE, a suicide prevention focused intensive case management intervention to increase access, improve care coordination, provide suicide prevention monitoring, and procure a timely response of VA mental health and suicide prevention services among VA-enrolled veterans receiving VA authorized community care. This phase is a hybrid effectiveness Type 1 randomized control trial, which will include 2 arms: the treatment intervention, SUPERCEDE, and the control intervention, present centered therapy. The main questions it aims to answer are:• This RCT will continue to build the evidence base for effectiveness and determine feasibility and acceptability for the previously piloted SUPERCEDE. • This RCT will improve the understanding of implementation of this intervention, both in VA and VA authorized community care organizations in preparation for broader implementation. Researchers will compare SUPERCEDE and present centered therapy to see if SUPERCEDE results in improved functioning and a decrease in suicidal ideation. Participants will be randomized to either SUPERCEDE or present centered therapy (PCT) plus a safety plan if warranted. SUPERCEDE is a suicide prevention case management intervention that combines BCBT-SP, a Crisis Response Plan (CRP), intensive case management to alleviate suicide risk factors, and VA authorized community care coordination. PCT is an active control condition often used in clinical trials of posttraumatic stress disorder. The intervention focuses on the present moment and encouraging the client to find solutions to their problems. In this trial, investigators will mirror the sessions of PCT to SUPERCEDE. Thus, the control group will receive 3 sessions, with an optional 3 additional sessions. Detailed Description For hypothesis 3a: Overall, 100 participants will be randomized to either SUPERCEDE or present centered therapy (PCT) plus a safety plan if warranted. SUPERCEDE is a suicide prevention case management intervention that combines BCBT-SP, a Crisis Response Plan, intensive case management to alleviate suicide risk factors, and VA authorized community care coordination. PCT is an active control condition often used in clinical trials of posttraumatic stress disorder. The intervention focuses on the present moment and encouraging the client to find solutions to their problems. In this trial, investigators will mirror the sessions of PCT to SUPERCEDE. Thus, the control group will receive 3 sessions, with an optional 3 additional sessions. The study therapist is trained in both SUPERCEDE and PCT. Recruitment. Eligible participants will be identified through the VA Rocky Mountain Regional (RMR) Medical Center the VA Corporate Data Warehouse (CDW), flyers and advertisements, or through clinician or community referral. A recruitment letter will be sent to participants identified in the CDW. Investigators will attempt to contact potential participants with a warm call by telephone (up to 3 times) after the letter is sent.

Type: Interventional

Start Date: Aug 2024

open study

There is a need and opportunity to improve the supports, transitions, and life outcomes of people with autism spectrum disorder. Compared to their neurotypical peers, autistic teenagers and adults report poorer mental health and quality of life and have higher rates of unemployment or underemployment and low participation in post-secondary education. Nearly 40% spend little or no time with friends. Although autism awareness has grown considerably in recent decades, much more can be done to improve the life outcomes for people with autism. Cost-effective, affordable and scalable support systems are needed as well as ongoing assessments and personalized support plans that focus on individual strengths and challenges in different contexts (college, work, community life) across the life span. This requires adaptive interventions and regular consultation with and between stakeholders. It also requires a rigorous approach to measuring outcomes that are not one-size-fits-all and do not expect everyone to reach, or have, the same goals. To meet these needs, the investigators leverage an already successful technology platform with two conversational-relational agents to be a digital companion and coach to autistic young adults (AYA, ages 18 to 35 years). The technology will be used to scale a strong theoretical and conceptual approach that has proven successful in meeting the individual needs and personalized outcomes of autistic students through a collaborative consultation model for promoting competency and success (COMPASS) combined with Goal Attainment Scaling (GAS). To deliver personalized coaching, empathy, and outcomes at scale, GAS/COMPASS was translated into software-driven evidence-based coaching protocols in collaboration with clinical, academic, and community partners. In this study, the digital coaching program and all research protocols are pilot tested in a 10-week experiential trial with AYA.

Type: Interventional

Start Date: Mar 2026

open study

The researchers are doing this study to test the safety of BMS-986504 in combination with standard disease-specific anticancer medication in people with metastatic/advanced unresectable MTAP-deleted solid tumor cancer.

Type: Interventional

Start Date: Apr 2026

open study

This study will evaluate the clinical safety and efficacy of oral brepocitinib in participants with lichen planopilaris

Type: Interventional

Start Date: Mar 2026

open study

When doctors perform surgery to remove brain tumors, the goal is to take out as much of the tumor as possible while keeping the patient's brain functions intact. However, sometimes patients have trouble with movements like walking or using their hands after surgery. One reason for this is unintentional damage to important areas of the brain during the operation. A technique called Transcranial Magnetic Stimulation (TMS) might help patients recover these lost abilities faster. The investigators are conducting a study to see if TMS can help patients recover their movement abilities after brain tumor surgery. TMS uses magnetic pulses to stimulate specific parts of the brain. In this study, the investigators will treat six patients with TMS once per day for three days in a row. Three patients with recent movement difficulties one to two weeks after surgery will be recruited for this study; they will also receive physical therapy. An additional three patients with persisting movement difficulties up to three years after tumor surgery will also be recruited for this study, regardless of whether or not they receive physical therapy. The investigators will use two standard tests to see how well patients can move before and after the TMS treatment. These tests will help the investigators understand if TMS is making a difference in their recovery.

Type: Interventional

Start Date: Jun 2026

open study

Fibromuscular dysplasia (FMD) is a disease of the arteries that is not due to plaque build-up or inflammation. While some patients with FMD are health, some may experience heart attacks, strokes, aneurysms or blood vessel dissection/tearing which can be life-threatening. It predominantly impacts women and younger patients. As a result of this diagnosis, many patients are counseled to restrict or avoid certain physical activities out of concern for provoking or worsening vascular complications. There are no guidelines or consensus recommendations regarding appropriate physical activity for patients with FMD. The lack of consensus may lead to confusion for patients and may negatively impact their quality of life. This study will conduct a large, national survey of patients with FMD to assess the type of physical activity restrictions and impact on quality of life and emotional well-being.

Type: Observational

Start Date: Apr 2026

open study

Non-Invasive Vagus Nerve Stimulation will be provided to the participants using a transcutaneous electrical nerve stimulation (TENS) unit, a routine physical therapy intervention by the faculty researcher who is a licensed physical therapist. The electrodes will be clipped to ear over the vagus nerve distribution area. The parameters will be 30 Hz, 250 us, 5 minutes, at tolerance (no pain). Reaction time will test collected pre and post the stimulation using online reaction time testing platform.

Type: Interventional

Start Date: Apr 2026

open study

Patients admitted with exertional rhabdomyolysis will be offered treatment with battlefield acupuncture for pain management and compared with patient's pain levels and pain medication requirements with those patients who declined battlefield acupuncture.

Type: Interventional

Start Date: Apr 2023

open study

The goal of this study is to evaluate the efficacy of using sensorimotor multi-axis automated rotational therapy (SMART) to help treat post concussion syndrome (PCS) in adults. The investigators hypothesize that patients who include SMART therapy as part of their treatment regimen will improve faster than patients who do not include SMART treatment. The investigators hypothesize that patients whose treatment approach includes SMART will improve to a greater extent in their primary outcome measures than patients whose treatment approach did not include SMART. The primary study endpoints are Post Concussion Symptom Scale (PCSS), Headache Impact Severity (HIT-6), Neck Disability Index (NDI), Dizziness Handicap Inventory (DHI), Functional Gait Assessment (FGA), Modified Clinical Test of Sensory Interaction in Balance (CTSIB-m), Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), and the Rivermeade Post-Concussion Symptom Questionnaire. These assessments will be performed before, midway, and after intervention. Researchers will compare study endpoints to subjects that proceed with standard of care treatments in physical therapy (PT) and speech therapy/cognitive rehabilitation therapy (ST/CRT). All participants will complete baseline testing in both PT and ST/CRT, and will continue with treatment in each therapy once a week. Intervention subjects will also complete 10 SMART session utilizing GyroStim, at a frequency of 2, 3 or 4 times a week. Follow up testing will happen in PT and ST/CRT after completion of 10 SMART sessions, or during their 6th PT and ST/CRT visit. Statistical analysis will look compare groups to evaluate efficacy of SMART intervention, as well as evaluate efficacy of therapeutic frequency.

Type: Interventional

Start Date: Mar 2026

open study

A reduction mammoplasty is a commonly performed procedure for patients with symptomatic macromastia. The procedure involves removing breast parenchyma for an overall reduction in breast size and to alleviate patient symptoms, such as back/neck pain, rashes in the inframammary fold, and bra strap indentation. It is well documented in the literature that this procedure has a statistically significant reduction in patient symptoms. Postoperatively, it has been within the norm to prescribe narcotics in order to alleviate post-procedural pain. Recently, however, the research realm has advocated a non-narcotic multimodal pain control (MMPC) approach to minimize narcotic usage. Narcotic use is associated with increased costs in the healthcare system due to reported heightened pain scores for extended duration, constipation, nausea, vomiting, opiate dependence among other factors associated with increased morbidity. The goal of this study is to determine if PECs II (pectoral block type II) block alone is non-inferior to the standard multimodal pain control with narcotics for postoperative pain reduction in breast reduction.

Type: Interventional

Start Date: Apr 2026

open study

This study is a randomized controlled clinical trial evaluating whether two therapeutic dietary approaches - a ketogenic diet and a carnivore (lion) diet - can improve quality of life, reduce symptoms, and influence measures of disease activity in adults with inflammatory bowel disease [ulcerative colitis and Crohn's disease] (IBD) or rheumatoid arthritis (RA). Participants will be randomized into one of three groups: 1) Ketogenic Diet, 2) Carnivore (Lion) Diet or 3) Wait-List Control. Participants randomized to a dietary group (ketogenic diet or carnivore diet) will be provided guidance on their specific dietary therapy and answer questions about their symptoms and quality of life at different intervals over a 24 week period. Participants will also complete laboratory testing at different intervals to assess for changes in nutritional status, cardiometabolic health and markers of immune activation and inflammation. Participants initially placed on the wait-list group will be asked similar questions about their symptoms and quality of life and complete the same laboratory testing as participants in a dietary group. Participants on the wait list will then be compared to participants following a specific dietary pattern to assess for any differences between the 2 groups. After 12 weeks, participants on the wait list will be randomized to a dietary group (ketogenic diet or carnivore diet) and followed in a similar fashion for an additional 12 week period.

Type: Interventional

Start Date: Feb 2026

open study

The purpose of this study is to evaluate the efficacy and safety of standard chemotherapy with or without INCB161734 in participants with metastatic pancreatic ductal adenocarcinoma (PDAC).

Type: Interventional

Start Date: Apr 2026

open study

The purpose of this clinical study is to validate the SpO2 accuracy performance of the sponsor's SpO2 sensors over the range of 70-100% SaO2 during non-motion conditions assessed by CO-Oximetry.

Type: Observational

Start Date: Mar 2026

open study

The goal of this study is to determine if the Buzzy System, a vibrating ice pack shaped like a bee reduces pain in removal of elbow fracture pin.

Type: Interventional

Start Date: Apr 2026

open study

Hydration status during exercise is often determined by measuring body mass change, fluid intake and urine output. However, obtaining these measurements can be an invasive, time-consuming process. Hydration status may be detectable by analyzing blood flow patterns of the superficial (just under the skin) blood vessels. Wearable devices are now abundant among the general population, and despite attempts from several groups, a hydration status metric based on noninvasive wearable device metrics has not been developed. With wearables, a light source connected to an optical sensor transmits and reflects light through the body. The light sensor detects absorption of the light based on wavelength measurements of the detected light. Absorption of specific wavelengths of light energy is dependent upon the amount of oxygenated blood in the vessels. When the vessels expand and relax, the amount of blood volume in the observed tissue increases and decreases potentially causing a shift in the photoplethysmography (PPG) wave detected by the wearable. The shift in the shape of the PPG wave may be detected in a way that indicates the relative change in tissue hydration levels. However, to our knowledge, no wrist worn device that utilizes PPG has been successfully able to predict hydration status. Therefore, this study aims to utilize photoplethysmography (PPG) technology in a wearable device to accomplish this approach to hydration monitoring.

Type: Interventional

Start Date: Apr 2026

open study

The study will evaluate whether videos can improve understanding of diabetic eye disease, and follow-up rates in the eye clinic.

Type: Interventional

Start Date: May 2026

open study

The purpose of this study is to investigate whether combining transcutaneous auricular vagus nerve stimulation (taVNS) with computerized cognitive training might help improve thinking abilities and mood. Participants will self-administer these treatment in their homes and undergo pre- and post-treatment assessments of thinking abilities and mood and brain MRIs.

Type: Interventional

Start Date: Mar 2026

open study