Background: HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a rare, progressive disease. It occurs in some people infected with the HTLV-1 virus. It leads to weakness in the lower limbs and other serious problems. It has no treatment. Teriflunomide is a drug used to treat multiple sclerosis. It reduces immune cells that make the disease worse. Researchers want to learn if this drug can help people with HAM/TSP. Objective: To learn the effects, immune response, safety, and tolerability of teriflunomide in people with HAM/TSP. Eligibility: Adults ages 18 and older with HAM/TSP. Design: Participants will be screened under protocol 98-N-0047. Participants will have a medical history. They will have physical and neurological exams. They will have blood and urine tests. Participants will take 1 tablet of the study drug once a day for 9 months. They will keep a drug diary. Participants will have lymphapheresis. For this, blood is drawn from a needle in one arm. A machine divides the blood into red cells, plasma, and white cells. The white cells are removed. The plasma and red cells are returned to the participant through a needle in the other arm. Participants will have lumbar punctures ( spinal taps ). For this, a thin needle is inserted into the spinal canal in the lower back. Spinal fluid is removed. Participants will have magnetic resonance imaging (MRI) of the brain and spine. The MRI scanner is a metal cylinder surrounded by a strong magnetic field. During the MRI, participants will lie on a table that can slide in and out of the scanner. Participation will last for 15 months.

Type: Interventional

Start Date: Sep 2021

open study

Background: Most people who are referred to the EMG (Electromyography) Section of the NIH are enrolled into specific active studies. This allows researchers to learn about a range of rare neuromuscular disorders. But study criteria may not give researchers the chance to evaluate a single person or study a common symptom. Therefore, researchers want to assess people with neuromuscular disorders who are not currently enrolled in any NIH studies. They will perform tests on these individuals in the EMG Lab. Then they will create a repository of data that may be used for future research. This will help them learn more about these disorders. Objective: To retain data that is collected as part of participant visits to the NIH. Eligibility: People aged 18 and older who will be visiting the NIH for evaluation of their neuromuscular disorder. Design: Participants will be screened with a medical record review. Participants will have a physical exam. They will be evaluated for their neuromuscular disorder. They may have tests to learn more about how their nerves and muscles work that are called nerve conduction and EMG studies. Their muscles and nerves may be assessed with an ultrasound. Their ability to sweat may be measured. Their heart rate and blood pressure may be taken. Changes to their breathing or changes in their body position may be measured. Participant data will be given a unique numerical identifier that can be used if the data is shared. Data will be stored on a server and in a database. Participants will have 1-2 visits. Each visit will last less than 4 hours. They may be contacted for a follow-up visit.

Type: Observational

Start Date: Jun 2024

open study

Background: SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA. Objective: To identify measurements that change over time in SBMA, including tests of muscle strength and function, as well as measurements of muscle and fat size. Eligibility: Men over the age of 18 both with and without a history of SBMA. Design: Participants will have a medical history, physical exam, and blood and urine tests. They will have neuromuscular ultrasound. They will have a lumbar puncture to obtain spinal fluid. For this, a needle will be inserted into the spinal canal in the lower back. Participants will have muscle strength and function tests. These tests may include pushing, pulling, rising from a chair and sitting back down, and/or walking. During these tests, they may wear an accelerometer (activity tracker) on their wrist. Participants will get an activity tracker to wear on their wrist for 10 days at home every 3 months. Participants with SBMA will also have lower limb magnetic resonance imaging (MRI) and optional whole-body MRI. They will have lung function tests. They will have speech and swallow tests. They will complete questionnaires. They may have optional body scans to measure bone density and lean body mass. They may have optional muscle biopsies. For biopsies, a needle will be used to take a small piece of muscle from the leg. Participants with SBMA will have 5 study visits over 2 years (every 6 months). Participants without SBMA will have 1 study visit.

Type: Observational

Start Date: Oct 2021

open study

The purpose of this investigation is to develop improved magnetic resonance imaging (MRI) techniques and hardware for studying brain function. MRI is a diagnostic tool that provides information about brain chemistry and physiology. This study will evaluate new MRI methods for monitoring blood flow to regions of the brain in response to simple tasks. The MRI machine used in this study is more powerful than those in most hospitals, permitting a higher visual resolution. Normal healthy volunteers over 18 years old may be eligible for this study. Candidates will be screened with a medical history and questionnaire, and a neurological examination. Study participants will have a yearly MRI scan. For this procedure, the subject lies on a stretcher that is moved into a donut-shaped machine with a strong magnetic field. A lightweight circular or rectangular coil a device that improves the quality of the images may be placed on the head. The scan time varies from 20 minutes to 3 hours; most scans last between 45 and 90 minutes. During the scan, the subject may perform simple tasks, such as listening to tapes, tapping a finger, moving a hand, watching a screen, or smelling a fragrance. More complex tasks may require thinking about tones or pictures and responding to them by pressing buttons. Information from this study will be used to develop better imaging methods that will, in turn, permit a greater understanding of normal and abnormal brain behaviors.

Type: Observational

Start Date: Jul 2000

open study

Background: People with hearing, balance, and taste, smell, voice, speech, language, and other Ear, Nose, and Throat (ENT) disorders may seek treatment at the National Institute on Deafness and Other Communication Disorders (NIDCD). Some of these people may benefit from enrolling in the NIDCD intramural research program to receive their care. Enrolling will also allow investigators to collect participants clinical data and specimens for future research. Objective: This natural history study has 2 goals: (1) to collect data and specimens that may be used for research; and (2) to evaluate participants who may be candidates for other research studies. Eligibility: People aged 2 years or older with a hearing, balance, and communication disorder. Those at risk or who are suspected of having such a disorder are also eligible. Design: Participants will be screened. Their medical records will be reviewed. Participants will agree to have their medical data used for research. Specimens such as blood or other tissue samples may also be used for research. All data and specimens will be collected during their routine care visits. All tests done will be the normal care for each participant s condition. No tests will be done solely for research. Some of these tests may require blood or tissue samples. Some may use special tools to test hearing and balance. Some may test heart or lung function. These tests may also include different types of imaging scans. All tests will be explained. Participants may ask questions at any time. Participants may remain in this study for up to 2 years. If they need further care, they may sign a new consent. ...

Type: Observational

Start Date: Mar 2023

open study

Background: - GATA2 deficiency is a genetic disorder that can cause problems with a person s immune system and other body systems. Some people who have this disorder develop few problems from it. Others can have a wide range of health problems, from skin problems, to hearing loss, to cancer. These problems can happen at any age. Researchers want to study GATA2 deficiency to better understand what types of health problems it can cause, and why it causes problems in some people but not others, and at different ages. Objectives: - To improve understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future. Eligibility: - People 2 years of age or older who have a GATA2 gene mutation or certain health conditions that are commonly seen in people with this mutation and their blood relatives. Design: - Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected to see whether participants have the GATA2 genetic mutation. Several other tests may be recommended, but participants can decline to take them. - Participants will be eligible to receive standard care for GATA2 deficiency through this protocol. They may be eligible for other clinical trials at the National Institutes of Health as well. - Participants will have regular study visits once a year to evaluate their GATA2 deficiency. Participants will take part in the study for at least 3 years and up to 15 years. At these follow-up visits, participants will fill out a questionnaire and take a physical exam and blood tests. Other tests may be performed as needed.

Type: Observational

Start Date: Aug 2013

open study

Despite the overwhelming focus on genetic and genomic causes of human disease over the past two decades, it has been estimated that genetics is currently known to explain only 20% and 40% of the etiology of common disease. Thus, it is becoming increasingly apparent that human disease is a consequence of both genetic susceptibility and environmental exposures. Importantly, while individuals cannot change their genetic composition, we do have the ability both personally and as a society, to influence our environment, promoting health and decreasing the risk of disease. The Personalized Environment and Genes Study (PEGS) aims to determine how the environment and gene-environment interactions can inform our understanding of human health and disease. As science has evolved, so too has the science of this project. This evolution was reflected in a change in the title of this project from the Environmental Polymorphisms Registry (EPR) to the Personalized Environment and Genes Study (PEGS) to more accurately reflect the science that can be conducted. PEGS is a unique resource because of the depth of environmental phenotyping which includes extensive information from exposome surveys, as well as whole genome sequencing on a significant number of participants in the cohort. While it is small relative to genomic cohorts, none of these have the extensive environmental data that is present in PEGS. In addition, other cohorts with deep environmental data lack the depth of genomic data that is present in PEGS. Importantly, PEGS has already provided important analytic advances that are of great interest to and can be confirmed in larger cohorts such as All of Us. The Personalized Environment and Genes Study (PEGS) aims to provide a resource for environmental health translational research by examining gene-environment interactions in health and disease. PEGS is an extension of two previous efforts where it began as a pilot study, the Environmental Polymorphisms Study (EPS; IRB# 02E9004) and was approved subsequently as a full protocol titled the Environmental Polymorphisms Registry (EPR) (IRB #04-E-N0053 and transitioned to its current ID# 04-E-0053). The EPR was envisioned as a phenotype-by-genotype registry of participants who had donated DNA samples, and who had agreed to be contacted for follow-up clinical translational studies based on their DNA genotypes. At the time, the only information available was a participant s age, sex, race, and ethnicity. Further phenotyping of a participant and/or any biospecimens obtained were investigated during a follow-up translational clinical study on participants recruited based on their genotype (hence phenotype-by-genotype) and the PEGS was the first recruit-by- genotype study at the NIH. Following a period focused on recruiting approximately 15,000 participants to enable genotyping of rare (approximately 1% minor allele frequency) single nucleotide polymorphisms (SNPs), the PEGS Consortium Project was undertaken in 2010- 2011 to examine, using the DNA of nearly 4,000 participants, approximately 700 SNPs in approximately 80 environmental response genes that work in concert with environmental exposures to elicit a phenotype. Several clinical follow-up studies, genotype-phenotype association studies, and publications have resulted from the PEGS Consortium Project. To expand phenotype information available to researchers, the Health and Exposure Questionnaire was administered between 2013-2014. In 2017, a more detailed Exposome Questionnaire which includes questions relating to the external and internal exposome was administered. This was an important resource through which to integrate exposures with genotype-phenotype association studies. Whole genome sequencing has now been performed on approximately 4700 participants who were reconsented for this purpose, as indicated above. Questionnaire data was fully adjudicated and combined in a robust and searchable database. With the increased power of the data available, the project was renamed as the Personalized Environment and Genes Study (PEGS) and rolled out in Sept. 2021. ...

Type: Observational

Start Date: May 2010

open study

Background: - Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers. Objectives: - To better understand nerve and muscle disorders that start early in life and run in families. Eligibility: - Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset. - Affected and unaffected family members of the individuals with muscular and nerve disorders. - Healthy volunteers at least 4 weeks old with no nerve or muscle disorders. Design: - Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected. - Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants. - All participants with nerve and muscle disorders will have multiple tests, including the following: - Imaging studies of the muscles, including ultrasound and MRI scans. - Imaging studies of the bones, such as x-rays and DEXA scans. - Heart and lung function tests. - Eye exams. - Nerve and muscle electrical activity tests and biopsies. - Video and photo image collection of affected muscles. - Speech, language, and swallowing evaluation. - Lumbar puncture to collect spinal fluid for study. - Tests of movement, attention, thinking, and coordination. - Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.

Type: Observational

Start Date: Mar 2012

open study

This study will test Flourish, a digital suicide prevention intervention for cyberbullied youth, within schools. Specifically, the study aims to: 1. Examine if Flourish is effective and can be feasibly delivered within schools among middle and high school students who are experiencing cyberbullying and suicide risk factors. Feasibility will be evidenced by recruitment and retention rates to the study (> or = 80%) and use of Flourish at least weekly among 80% of youth. Effectiveness will be evidenced by students reporting improvements in psychological distress and suicidal thoughts over the 3-month follow-up period. 2. Understand barriers or facilitators to Flourish's adoption within schools. We will conduct exit interviews and brief surveys with school personnel to inform optimal strategies for implementing Flourish within schools

Type: Interventional

Start Date: Mar 2026

open study

This study aims to evaluate the efficacy of Laser Interstitial Thermal Therapy (LITT) in treating recurrent or progressive, low-grade gliomas (LGG) in pediatric, adolescent and young adult patients.

Type: Interventional

Start Date: Mar 2026

open study

This is a phase 2 randomized, double-blind, placebo-controlled trial assessing the efficacy and safety of icovamenib in participants with Type 2 Diabetes (T2D) not achieving glycemic targets despite Ozempic-based therapy.

Type: Interventional

Start Date: Mar 2026

open study

This is a Phase 2, randomized, double-blind, placebo-controlled trial assessing the efficacy and safety of icovamenib in participants with Type 2 Diabetes who are not achieving glycemic targets despite antihyperglycemic medications.

Type: Interventional

Start Date: Mar 2026

open study

STUDY OBJECTIVE To assess if acoltremon 0.003% improves tear production in patients with Stage 1 Neurotrophic Keratopathy.

Type: Interventional

Start Date: Mar 2026

open study

The CARES4You study is testing a middle school science curriculum designed to teach students about cancer risk and prevention. The lessons are taught by regular science teachers during class time and are aligned with national science education standards. The curriculum includes six units (14 lessons) that help students learn about cancer, understand how lifestyle and environmental factors influence risk, and think about ways to make healthy choices. The study will take place in 10 public middle schools in New York City. Some schools will begin using the CARES4You curriculum right away, while others will continue with their usual science lessons and receive the program later. Researchers will compare the two groups of schools. The main goal of the study is to see whether the curriculum increases students' intentions to engage in healthy behaviors that may reduce cancer risk. The study will also examine whether students talk more with their caregivers about cancer risk and prevention after participating in the program. Caregivers may also report on some health behaviors in the household. If the program is effective, CARES4You could provide schools with a practical and sustainable way to teach cancer prevention and promote healthy behaviors among adolescents and their families.

Type: Interventional

Start Date: Jan 2026

open study

This study evaluates the diagnostic performance, usability, and clinical utility of the Medentum Diagnostik platform, a multisensor device with integrated software and artificial intelligence, in pediatric patients with asthma and ENT conditions. Participants will be assigned to either home-based use of the Diagnostik platform with telehealth-supported clinician evaluation or standard in-person care. The primary objective is to assess agreement between AI-generated diagnoses and clinician diagnoses obtained during study encounters, including telehealth evaluations in the Diagnostik arm and in-person evaluations in the standard-of-care arm. Secondary objectives include evaluating agreement between AI-generated diagnoses and independent research team diagnoses, as well as assessing usability, patient and caregiver satisfaction, healthcare utilization, and clinical outcomes such as asthma control and symptom resolution. This study will also evaluate differences in healthcare utilization, including in-person visits, emergency care use, and time to diagnosis and treatment, between study groups.

Type: Interventional

Start Date: Oct 2025

open study

The purpose of this study is to test the usefulness and the effect of Smart Virtual Reminiscence (SVR) therapy intervention on the Behavioral and Psychological Symptoms of Dementia (BPSD) of patients with Alzheimer's Disease and Related Dementias (ADRD). Smart Virtual Reminiscence (SVR) therapy uses a virtual interventionist and the Large Language Model technologies. SVR is designed to help older adults improve their psychological well-being and cognition. This research supports our long-term goal of designing and implementing intelligent interactive systems to improve the health of individuals with ADRD.

Type: Interventional

Start Date: Sep 2025

open study

The purpose of this study is to evaluate humoral immunogenicity after 2 doses of mRNA-1018-H5, and to evaluate the safety and reactogenicity of mRNA-1018-H5 in adults ≥18 years of age.

Type: Interventional

Start Date: Mar 2026

open study

The purpose of this study is to see how well Photon Counting CT (PCCT) and ultrasound test results can find fat and scarring in the liver. They will be compared to MRI test results as the reference standard. Participants will get a regular CT scan on the PCCT scanner, plus a few extra pictures just for the study. They will also get an MRI, either on the same day or a different day, whichever is preferred. Participants will get an ultrasound on the same day as the MRI. If they have not had a hematocrit blood test in the past 24 hours, they will also receive one on the day of the CT scan.

Type: Interventional

Start Date: Mar 2026

open study

Phase II study for patients with Bipolar 1 Disorder experiencing major depressive episode. Patient eligible for enrollment will be randomized (like flipping a coin) to either active drug (LB-102 or placebo). Treatment is for 6 weeks.

Type: Interventional

Start Date: Jan 2026

open study

The aim of the present study is to investigate a plasma exosome RNA signature to diagnose clinically significant prostate cancer.

Type: Observational

Start Date: Mar 2021

open study

This study is designed to evaluate the effectiveness, safety and clinical performance of ADAPT 2.0, first-line aspiration neurothrombectomy with Zoom System with Continuous Dual Aspiration Technique (CDAT).

Type: Observational

Start Date: Mar 2026

open study

This is a double-blind, placebo-controlled study evaluating the safety and efficacy of incobotulinumtoxinA (Merz) for the treatment of provoked vestibulodynia (PVD) associated with overactive pelvic floor muscle dysfunction. Eligible participants are premenopausal females aged 18 years and older with a confirmed diagnosis of PVD with hypertonic pelvic floor muscles, established by both an expert physician and an expert pelvic floor physical therapist. Participants must have bilateral provoked pain at the posterior vestibule on cotton swab testing and a pain score of 5 or greater on an 11-point Numeric Rating Scale (NRS) during standardized dilator testing at baseline. Key outcome measures include change in pain during dilator testing and Patient Global Impression of Change (PGI-C). Participants with anterior vestibular pain, prior botulinum toxin injection in the genitopelvic area within the past 12 months, or significant genitourinary conditions that may confound assessment are excluded.

Type: Interventional

Start Date: Feb 2026

open study

The objective of Heartflow's NAVIGATE-PCI Registry is to collect observational data about the management of patients before and after deployment of Heartflow's PCI Navigator.

Type: Observational [Patient Registry]

Start Date: Mar 2026

open study

This study is evaluating a new, noninvasive device designed to detect whether cerebrospinal fluid (CSF) is flowing through a surgically implanted shunt. CSF shunts are commonly used to treat hydrocephalus, but it can be difficult to tell whether a shunt is working properly without invasive testing or imaging that does not directly measure flow. The study device is a small, wireless sensor placed on the skin over the shunt tubing, typically near the collarbone. It uses gentle, controlled warmth to measure temperature changes that indicate whether fluid is flowing inside the shunt. The device does not break the skin and does not change a participant's medical care. This study will enroll children and adults who already have a CSF shunt and who do not have new or worsening symptoms of shunt malfunction. All participants will have a measurement taken while their shunt valve is at its usual prescribed setting. Some participants with programmable shunt valves will also have a second measurement taken after their valve is temporarily adjusted to a setting intended to stop or greatly reduce flow ("virtual off"). After this measurement, the valve will be returned to its prescribed setting. The study device results will not be shown to participants or their medical providers and will not be used to make treatment decisions. The goal of the study is to determine how well the device can distinguish between shunts that are allowing flow and those that are not. Participants will be monitored for a short period after device use and, if applicable, after any valve adjustment. The main risks of participation are mild skin irritation from the adhesive or temporary symptoms related to valve adjustment. Participants are not expected to receive a direct medical benefit, but the information gained may help improve future diagnosis of shunt function.

Type: Interventional

Start Date: Jan 2026

open study

Adapt the Regulation of Cues (ROC) treatment program for Latinas to see if it can treat prediabetes and prevent developing of Type 2 Diabetes and reduce weight.

Type: Interventional

Start Date: Mar 2026

open study