Background: Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID. Objective: To learn more about PIDs, including their genetic causes. Eligibility: People ages 0-90 with a PID or their healthy biological relatives the same ages Healthy volunteers ages 18-75 Design: Participants will be screened with a medical history, physical exam, and HIV blood test. They may have a pregnancy test. Participants may repeat the screening tests. Blood taken at screening will be used for genetic tests and research tests. Participants will be told test results that affect their health. Some blood will be stored for future research. Adult participants with a PID may have a small piece of skin removed. The area will be numbed. A small tool will take a piece of skin about the size of a pencil eraser. Researchers may collect fluid or tissue samples from PID participants regular medical care. They will use them for research tests. Participants with a PID will have 3 follow-up visits over 10 years (for infants, 2 years). Visits will include a physical exam, medical history, and blood draw. Participants with a PID and their relatives will be called once a year for 10 years. They will talk about how they are feeling and if they have developed any new symptoms or illnesses. ...

Type: Observational

Start Date: May 2018

open study

Background: - Spondyloarthritis (SpA) is a group of bone and joint disorders that may cause back and joint pain and stiffness. In some cases, SpA can lead to abnormal bone growth affecting the joints and spine. Some patients have SpA without ever developing these growths, while others develop them after only a few years. Researchers are interested in studying people with SpA and their relatives to determine which people are more likely to develop more severe conditions. Objectives: - To identify symptoms and medical tests that can help determine whether a person with SpA is at risk for developing more severe forms of the disease. Eligibility: - Individuals of any age who have been diagnosed with SpA. - Healthy volunteer relatives (at least 6 years of age) of the individuals with SpA. Design: - Participants will be screened with medical records and family medical histories, and will be invited to the clinical center for the study. - Participants with SpA will have a physical exam and medical history, including a study of joint movement, blood and urine tests, and questionnaires about pain and quality of life. - Participants with SpA will have imaging studies, including magnetic resonance imaging (MRI). Other samples such as skin tissue and bone marrow may also be collected for study. - Healthy volunteers will provide a blood sample and cheek cell samples. - No treatment will be provided, although treatment options will be discussed.

Type: Observational

Start Date: Aug 2011

open study

Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.

Type: Observational

Start Date: Jun 2021

open study

Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more. Objective: To learn more about RASopathies, how genes and environmental factors contribute to cancer development in people with RASopathies, and the best way to find these cancers and other conditions early or prevent them. Eligibility: People of any age who have or may have a RASopathy, and their family members. Design: Participants will complete questionnaires about their personal and family medical history. Their medical records will be reviewed. Participants will give blood and urine samples. They will give a saliva or cheek cell sample. Some samples will be used for genetic testing. Participants may have a skin biopsy. Participants may have a physical exam by the RASopathies study team. They may also have exams by additional specialists, such as dentists; urologists; ear, nose, and throat doctors; and neurologists. Participants may have computed tomography of the face and mouth. They may have an ultrasound of the abdomen. They may have a bone density scan. They may have skeletal and/or spine x-rays. They may have magnetic resonance imaging of the brain, low back, chest, and/or heart. They may be photographed. Participants may have other tests, such as sleep, brain and heart electrical activity, speech and swallow, metabolism, hearing, eye, and colon function tests. Participants may sign separate consent forms for some tests. Participation will last indefinitely. Participants may be contacted once in a while by phone or mail. They may have follow-up visits.

Type: Observational

Start Date: Apr 2022

open study

Background: - Some people with cancer have solid tumors. Others have refractory leukemia. This may not go away after treatment. Researchers want to see if a drug called TURALIO(R) can shrink tumors or stop them from growing. Objectives: - To find the highest safe dose and side effects of TURALIO(R). To see if it helps treat certain types of cancer. Eligibility: - People ages 3-35 with a solid tumor or leukemia that has returned or not responded to cancer therapies. Design: - Individuals will be screened with: - Medical history - Physical exam - Blood and urine tests - Heart tests - Scans or other tests of the tumor - Individuals will take TURALIO(R) as a capsule once daily for a 28-day cycle. They can do this for up to 2 years. - During the study, participants will have many tests and procedures. They include repeats of the screening tests. Individuals will keep a diary of symptoms. - Individuals with solid tumors will have scans or x-rays. - Individuals with leukemia will have blood tests. They may have a bone marrow sample taken. - Some individuals may have a biopsy. - When finished taking TURALIO(R), individuals will have follow-up visits. They will repeat the screening tests and note side effects.

Type: Interventional

Start Date: Apr 2015

open study

This is an interventional, randomized, parallel group, treatment, Phase 3, double blind study to assess the effect of Rezpegaldesleukin in participants 12 years of age or older with moderate to severe atopic dermatitis, as compared to placebo. The estimated participant overall duration is approximately 15 months.

Type: Interventional

Start Date: Aug 2026

open study

This early-stage pilot trial aims to examine the feasibility, tolerability, and safety of Floatation-REST, or Reduced Environmental Stimulation Therapy via floatation in frontline healthcare workers, first responders, and emergency medical personnel who experience post-traumatic stress symptoms.

Type: Interventional

Start Date: Jun 2026

open study

The purpose of this investigation is to evaluate pre- and post-operative patient reported outcomes and functional scores after open non-augmented Broström repair or open Broström repair augmented with the BioBrace Implant.

Type: Interventional

Start Date: Jun 2026

open study

The goal of this study is to scientifically evaluate the efficacy of this oil pulling oral rinse in reducing dental plaque, gingival inflammation, gingival bleeding, and selectively reducing caries- and periodontal disease-associated bacteria compared to a marketed mouthwash and a placebo oral rinse

Type: Interventional

Start Date: Jul 2026

open study

Background: Hormonal therapy (HT) is highly effective for nearly all breast cancer patients with hormone receptor-positive tumors, which are about 80% of all breast cancer diagnoses. Long-term use of HT reduces cancer recurrence rates and cuts the risk of mortality nearly in half during the second decade after diagnosis. Despite proven benefits, 33% of women who are prescribed HT do not take it as prescribed (<80% take their daily dosage). Latina patients are disproportionately affected by non-medical drivers of health (NMDoH) that keep them from adhering to HT and are at higher risk of breast cancer recurrence and mortality. Objective: The goal of this 4-year randomized controlled study is to assess the effectiveness of the bilingual, culturally tailored, interactive HT Helper App, in combination with patient navigation (PN), on improving adherence to HT among Latina breast cancer patients experiencing any NMDoH barriers, such as income, health insurance, education, health literacy, and language, that impact their medication adherence. This theory-based intervention will increase patient education, enhance self-efficacy, facilitate communication with the medical team and coordination of resources to address NMDoH barriers, and help patients develop self-care skills for optimal adherence to HT, ensuring patients the most equitable treatment outcomes possible, including improvement in quality of life, survival, and life expectancy. Specific Aims/Hypothesis: 1) Conduct a 3-group randomized study to assess the effectiveness of the HT Helper App + PN vs. PN alone vs. usual care, on HT adherence; and 2) Assess the effect of each study condition on patient self-efficacy to identify side effects, use self-care to manage side effects, and communicate with the medical team. We hypothesize that the HT Helper App + PN and the PN alone groups will have greater rates of HT adherence and higher patient self-efficacy than the usual care group; with the HT Helper App + PN achieving better results than both PN alone and the usual care groups. Study Design. The proposed study involves a parallel 3-group randomized controlled trial with 5-time assessments (baseline, 3, 6, 12, and 18 months) and will enroll 159 breast cancer patients who are prescribed HT and are attending the breast clinic at the Mays Cancer Center at UT Health San Antonio. Intervention components are based on Social Cognitive Theory and elements of Motivational Interviewing. Cancer Relevance. This innovative multi-level intervention will improve adherence to HT by addressing NMDoH and promote equitable breast cancer outcomes, including reduced recurrence and improved quality of life, overall survival, and life expectancy among underserved Latina patients. The anticipated outcome is a scalable, evidence-based, and easily disseminated intervention with potentially broad use to patients using oral anticancer medications.

Type: Interventional

Start Date: Sep 2025

open study

DBC-664-ONC-101 is a first-in-human Phase 1a/1b open-label, multicenter study to evaluate the safety, tolerability, PK, pharmacodynamic, and preliminary anti-tumor activity of DBC-664 in patients with endometrial cancer, ovarian cancer, and other advanced solid tumors . This study is divided into 2 parts: Phase-1a Dose Escalation (Part 1), and Phase-1b Dose Expansion (Part 2). In each part, patients who meet specific eligibility criteria will be enrolled.

Type: Interventional

Start Date: Jun 2026

open study

This is a Phase 1/Phase 2 study with: - 5-arms design for Part A; - and a single arm for Part B. The purpose of this study is to measure PK parameters and safety with sarilumab intravenous (IV) with or without concomitant oral conventional synthetic Disease-Modifying Antirheumatic Drugs (csDMARDs) in male and female participants with moderately to severely active rheumatoid arthritis aged 18 years of age or older. Study details include: - The study duration will be up to 64 weeks. - The treatment duration will be up to 6 months for each study phase. - Part A has 10 visits, including a post-treatment end of study (EOS) follow-up visit. - For participants entering the open label extension to receive the approved 200 mg sarilumab every two weeks (Q2W) dose, there will be 3 additional study visits. - For the intra-study sarilumab 200 mg Q2W subcutaneous (SC) arm, participants will be evaluated over the course of 24 weeks plus post-treatment EOS follow-up visit following the schedule of activities (SoA) of Part A from Day -1 to Day 29 (total of 8 visits) and the SoA of Part B from Week 4 to Week 24 (total of 8 visits) and a post-treatment end of study (EOS) follow-up visit at Week 30 (Part B) for a total of 17 visits, including a post-treatment EOS follow-up visit. - Part B has 13 visits, including a post-treatment EOS follow-up visit.

Type: Interventional

Start Date: Jul 2026

open study

The goal of the study is to examine the effect of outreach from IN-HOME-trained CHWs on changes in male informal caregiver knowledge/skills, positive attitudes, self-efficacy, and intentions about caregiving topics. The study will also assess the extent to which exposure to IN-HOME improves male caregivers' general, physical, and mental health and reduces interference with daily tasks due to health-related issues and satisfaction with the program and associated app.

Type: Interventional

Start Date: Jun 2026

open study

This study is testing a new way to support healthy eating by providing free meal kits through a food pantry. Adults who use The Open Door food pantry will receive meal kits that include fresh produce, seafood, and other ingredients, along with simple recipes and optional cooking demonstrations, over a 3-month period. The goal is to learn whether these meal kits are helpful, easy to use, and a good fit for the community. Researchers will also look at whether they help improve access to healthy foods, diet quality, and confidence with cooking. Participants will be asked to complete short surveys at the beginning and end of the study, and some may be invited to join a group discussion to share their experiences. Overall, the study aims to improve programs that connect people to healthy, locally sourced food and to inform future efforts to support nutrition and food access in the community.

Type: Interventional

Start Date: Jun 2026

open study

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.

Type: Observational [Patient Registry]

Start Date: Jul 2026

open study

The study will compare cognitive capacity, muscle utilization patterns, soft tissue seated pressure and caloric output during four seated conditions: 1. passive sitting in a regular chair; 2. passive sitting in an exercise chair; 3. sitting in the exercise chair during active dynamic exercise; and, 4. sitting in the chair during active static exercise.

Type: Interventional

Start Date: Jul 2026

open study

The goal of this Phase 1 clinical trial is to assess single dose pharmacokinetics of oral EC5026 in a population with chronic kidney disease. The main questions it aims to answer are: 1. To determine if the PK of a single 8 mg dose of EC5026, administered orally, in adult participants with varying severity of CKD differs from age-matched healthy participants with normal kidney function. 2. To determine if a single 8 mg dose of EC5026, administered orally, in adult participants with varying severity of CKD is safe and well tolerated. Researchers will compare a single 8 mg dose of oral across participants with varying degrees of kidney function impairment (either normal kidney function, or stage 3b chronic kidney disease [CKD], or state 4/5 CKD). Participants will be asked to take a single oral dose of EC5026 and will be monitored with PK laboratory assessments and safety assessments (including physical exams, vital signs, electrocardiograms, and others).

Type: Interventional

Start Date: Jul 2026

open study

This is a pilot, open-label clinical trial determining the feasibility of metformin therapy in subjects with pseudomyxoma peritonei (PMP) secondary to appendiceal mucinous neoplasms (AMNs).

Type: Interventional

Start Date: Jun 2026

open study

This is an interventional, randomized, parallel group, treatment, Phase 3, double blind study to assess the effect of Rezpegaldesleukin in participants 12 years of age or older with moderate to severe atopic dermatitis, as compared to placebo. The estimated participant overall duration is approximately 15 months.

Type: Interventional

Start Date: Jul 2026

open study

In this experiment, subjects will view a cross pattern on the screen and be asked to focus their eyes on it. The cross pattern will look like it is moving towards and away from the eye in a back-and-forth motion. As the subjects focus their eyes on the shapes, the investigators will measure the focus of their eyes using a device called a wavefront sensor. This device uses infrared light to measure the optical properties of the eye in real time. Our goal is to find out how well the eye focuses before and after viewing images on a screen up close (25cm). Since many people spend a lot of time looking at a computer screen while at work or at school, it is important to understand how this affects the eye's ability to focus.

Type: Interventional

Start Date: Jun 2026

open study

The study is testing UBT251 in participants with type 2 diabetes. The purpose of this clinical study is to find out if UBT251 is effective and safe for treating participants with type 2 diabetes. Participants will either get UBT251, UBT251 placebo, semaglutide, or semaglutide placebo. Which treatment participants get is decided by chance. UBT251 is the treatment being tested and is not yet available for doctors to prescribe, while semaglutide is a medicine used to treat type 2 diabetes that doctors can already prescribe.

Type: Interventional

Start Date: Jun 2026

open study

This master study protocol, Study D7260C00015, covers 2 independent, pivotal studies, Study 1 and Study 2. Each study is a global, randomized, double-blind, parallel-group, multicenter, Phase III study to assess the efficacy and safety of elecoglipron compared with placebo adjunct to diet and exercise for weight management, in adults living with obesity or overweight with at least one weight-related comorbidity, and without T2DM (Study 1) or with T2DM (Study 2).

Type: Interventional

Start Date: Jun 2026

open study

The purpose of this study is to evaluate the efficacy, safety, and tolerability of elecoglipron, compared with placebo in adults with type 2 diabetes mellitus (T2DM) and impaired renal function, who are or will be on a background of sodium-glucose cotransporter 2 inhibitor (SGLT2i) dapagliflozin 10 mg as per guideline directed medical therapy (GDMT) for chronic kidney disease (CKD). Additionally, participants are on other glucose-lowering medication(s).

Type: Interventional

Start Date: Jul 2026

open study

The main purpose of this study is to understand how safe and well-tolerated LY4174794 is in participants with obesity or overweight who are otherwise healthy. Blood tests will be performed to check how much LY4174794 gets into the bloodstream and how long it takes the body to eliminate it. Participation in this study will last about 35 to 45 weeks (7 to 11 months).

Type: Interventional

Start Date: Jun 2026

open study

The goal of this study is to explore the feasibility of a new approach to rehabilitation that focuses on step count. Participants will complete 6 telephone or Zoom-based sessions with an occupational therapist over 6 weeks and use a step count tracker during that time. They will also complete questionnaires, assessments, surveys, and physical activity measurements during study weeks 0 (baseline), 3 (mid-point), 7 (post-intervention) and 12 (follow-up).

Type: Interventional

Start Date: Jul 2026

open study