Background: People who will participate in research studies need to undergo proper screening, evaluation, and assessment (SEA). SEA helps keep those who participate in studies safe. It also helps ensure accurate study results. The National Institute on Drug Abuse (NIDA) Intramural Research Program (IRP) wants to screen people with alcohol and/or substance use disorders (ASUD) as well as people without ASUD for ongoing studies at NIDA in Baltimore, MD Objective: To screen people with or without ASUD for ongoing studies at NIDA. The ultimate goals are to learn why some people (1) use drugs; (2) stop using drugs; (3) use drugs but do not get addicted; and (4) never use drugs snd to develop ASUD treatments. Eligibility: People aged 18 years and older. They may (1) currently use nicotine, alcohol, opioids, cocaine, or other drugs; (2) no longer use them; or (3) have never used them. Design: Participants will have 1 screening visit that could last up to 8 hours. The visit may be split over more than 1 day. The duration of the screening may vary for each individual based on which studies they are interested in and screened for. The tests they undergo may vary and may include the following: - Physical exam. - Blood, saliva, and urine tests. - Breath samples that test for alcohol and carbon monoxide. - Test of heart function. - Smell test that measures sense of smell. - Tests of memory, attention, and thinking. - Mental health evaluation. - Mock magnetic resonance imaging (MRI) scan. - Questionnaires about alcohol and other drug use, mental health, medical history, and life in general.

Type: Observational

Start Date: Sep 2024

open study

Background: Proteins are essential to the health and structure of the cells that make up body tissues. Most proteins become damaged over time and are replaced with new ones. This process is called "protein turnover." Stress, disease, and aging can affect this process. Researchers want to better understand how aging affects protein turnover. Objective: To measure rates of protein turnover in healthy adults. Eligibility: Healthy people aged 20 years and older with a body mass index between 20 and 30. Design: Participants will have 6 study visits over 4 to 6 weeks. They will fast 12 hours before each visit. Participants will be screened. They will have a physical exam, with blood and urine tests and tests of their heart function. They will lie down while blood pressure cuffs are used on their arms and legs. Participants will be given bottles of heavy water to drink at home on a schedule for 21 days. Each bottle holds about 3.5 tablespoons. Heavy water is odorless, colorless, and tasteless, like normal drinking water. It is safe to drink and has been used in research for many years. Participants will have tests during study visits, including: Imaging scans of a leg. Exercise on a treadmill. Biopsies of muscle, skin, and fat: Small samples of tissue will be cut from the calf and abdomen. Resting metabolic rate: Participants will lie still and breathe into a mask for 20 minutes. Knee/grip strength: Participants will do strength tests with their legs. They will squeeze a device with their hands. D3-Creatine: Participants will take 1 pill of D3-Creatine, which occurs naturally in muscle.

Type: Observational

Start Date: Jun 2024

open study

Background: Major depressive disorder (MDD) is a serious mental illness that can put people at risk of self-harm and death. Many drugs are used to treat MDD, but it can take a long time for them to be effective. Researchers want to know if a faster-acting drug, (2R,6R)-hydroxynorketamine (HNK), can better treat the symptoms of MDD. Objective: To test a study drug (HNK) in people with MDD. Eligibility: People aged 18 to 70 years with MDD. They must have had a screening assessment under protocol 01-M-0254. Design: Participants will be tapered off their current MDD drugs over 2 to 5 weeks. They will stay off of the drugs for up to 2 weeks prior to starting the study medication and procedures. They will have a physical exam with blood tests. They will have tests of their heart function, mood, and thinking. They will answer questions about their symptoms. They may choose to have imaging scans and scans of their brain activity. HNK is given through a tube attached to a needle inserted into a vein. Participants will receive infusions on this schedule: They will receive 4 infusions over 2 weeks. They will stay in the clinical center overnight after each infusion or for the duration of the study. They will receive no drugs for 2 to 3 weeks. They will have 4 more infusions over 2 weeks, with overnight stays after each or for the duration of the study. One set of 4 infusions will be the HNK. The other set of 4 infusions will be a placebo. A placebo looks just like the real drug but contains no medicine. Participants will not know when they are getting the HNK or placebo. ...

Type: Interventional

Start Date: Nov 2024

open study

Background: Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma. Most people with this cancer can be cured. But those who are not cured have a poor prognosis. Researchers want to add another drug to standard treatment see if it can improve the cure rate. Objective: To see if the drug acalabrutinib given with rituximab and standard combination chemotherapy can improve the cure rate of aggressive B-cell lymphomas such as diffuse large B-cell lymphoma. Eligibility: People ages 18 and older with an aggressive B-cell lymphomas that have not been treated Design: Participants will be screened with: Blood and urine tests Physical exam Medical history Tumor biopsy Bone marrow biopsy: A needle will remove marrow from the participant s hipbone. Lumbar puncture: If necessary, a needle will remove fluid from the participant s spinal canal. Imaging scans Participants will take the study drug for up to 14 days. It is a pill taken 2 times a day. Then they will have more scans. They will get rituximab and chemotherapy. They may get these drugs through a needle in an arm vein. Or they may them through a tube placed in a vein in their chest or in their neck. They might also keep taking the study drug. Each treatment cycle lasts 21 days. They will have up to 6 cycles. Participants may have 4 doses of another drug injected into their spinal fluid. Participants will have repeats of the screening tests throughout the study. Participants will have a follow-up visit 30 days after their last treatment, then every 3 months for 2 years, then every 6 months for 3 years, and then yearly.

Type: Interventional

Start Date: Aug 2019

open study

Background: Follicular lymphoma is a type of cancer of the lymph nodes. Lab studies are important for cancer research. They help scientists better understand differences in the cancer biology of different patients. Researchers want to collect serial samples over time from people with follicular lymphoma to help them design future treatments. Objective: To collect a variety of samples from people with follicular lymphoma to study how these diseases progress and respond to treatment. Eligibility: Adults at least 18 years old who have been diagnosed with, but have not yet had any treatment for, follicular lymphoma. Design: Participants will be screened with medical history and physical exam. They will answer questions about daily functioning. They will have blood and urine tests. They may have scans and have tissue samples taken. Participants will be monitored about every 4 months for up to 2 years. They will repeat screening tests. They will have a cheek swab. A small brush will be rubbed against the inside of the cheek to wipe off some cells. Participants will have imaging scans about every 8 months for up to 2 years. Participants may have a bone marrow aspiration and biopsy. The hipbone will be numbed with a small needle. A needle will be put into the hipbone, and about 2 tablespoons of bone marrow will be taken out through the needle. Participants will continue being monitored every 6 months for up to 5 years, then 1 time a year.

Type: Observational

Start Date: Jul 2017

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: People with substance use disorder (SUD) often have changes in brain function that can make it difficult to control drug-seeking behavior. These changes may heighten the urge to use drugs or lessen the desire to seek nondrug-related rewards. Researchers want to know how a technique called transcranial magnetic stimulation (TMS) may cause changes in brain activity that may help people with SUD. Objective: To test TMS in healthy volunteers. Eligibility: Healthy people aged 18 to 45 years who are right-handed. Design: Participants can volunteer for up to 5 different experiments. Each experiment requires 2 to 8 clinic visits. Each visit will last 3 to 7 hours. Some visits will include TMS. A coil will be placed on the participant s head. A brief electrical current will pass through the coil to create a magnetic field. Participants may feel a tapping or pulling sensation on the skin under the coil. They may feel a twitch in their face, neck, arm, or leg muscles. Participants may be asked to tense certain muscles during TMS. Some visits will include functional magnetic resonance imaging (fMRI) scans. Participants will lie on a bed that slides into a large tube. They will perform tasks on a computer inside the tube. The fMRI will show which parts of the brain are used during each task. Participants will perform tasks on a computer. Some tasks may be done at a desk as well as during TMS and fMRI. Participants may look at images, listen to sounds, smell odors, or taste flavored liquids. Their vital signs may be monitored and their eye movements may be tracked during tasks.

Type: Interventional

Start Date: Dec 2025

open study

Background: Some children/adolescents who have had a stem cell transplant live with chronic graft-versus-host-disease (cGVHD). cGVHD is a side effect of the transplant that can cause multiple bothersome symptoms and negatively affect a child/adolescent squality of daily life. The questionnaires that measure thesymptoms caused by cGVHD are designed for adults. Children/adolescents may not describe their symptoms in the same way. The goal of this research is to improve the way we measure how bothersome these symptoms are for children/adolescents living with cGVHD. Objective: To develop a questionnaire (The Pediatric cGHVD Symptom Scale) for children/adolescents living with cGVHD to identify the symptoms they are experiencing and describe how bothersome those symptoms are to them. An additional goal is to design a parent/guardian companion questionnaire that can be used to capture the symptom experiences of very young children who may not be able to complete a questionnaire. Eligibility: Children/adolescents ages 5-17 who are receiving treatment for cGVHD after a stem cell transplant, and their parent/guardian.. Design: This study consists of 2 projects. Children/adolescents with cGVHD and their parent/guardianparticipants will be grouped by the child/adolescent s age: 5-7, 8-12, and 13-17. In project 1, participants will complete an age-appropriate questionnaire about cGVHD symptoms. The questionnaire will ask about the child/adolescent s physical functioning and emotional well-being. The parent/guardian will out fill out a companion questionnaire online. The child/adolescent will then review their completed questionnaire during an interview with a researcher and will be asked whether the questions about their symptoms were difficult to understand. The parent/guardian and child/adolescent will then be interviewed together to further explore their responses to the questionnaires. Interviews will be done in person, by phone, and online. . Based on what is learned through these interviews, the wording of the questionnaire will be improved for better comprehension and ease of response. In project 2, participants will complete this revised questionnairefor their age group along with some other questionnaires that ask about quality of life. Both the child/adolescent and parent/guardian will fill out the questionnaires online at three separate time points. In both projects, children/adolescents with cGVHD and their parent/guardian participants will be grouped by the child/adolescent s age: 5-7, 8-12, and 13-17. ...

Type: Observational

Start Date: Oct 2019

open study

Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme. This could improve GM1 symptoms. Objective: To test if a gene therapy helps Type I and Type II GM1 gangliosidosis symptoms. Eligibility: Type I subjects will be male and female >= 6 months <= 12 months of age at the time of full ICF signing. Type II subjects will be male and female > 12 months old and < 12 years old at the time of full ICF signing. Design: Participants will be screened with their medical history and a phone survey. Participants will stay at NIH for 8-10 weeks. Participants will have baseline tests: Blood, urine, and heart tests Hearing tests Ultrasound of abdomen EEG: Sticky patches on the participant s head will measure brain function. Lumbar puncture: A needle will be stuck into the participant s spine to remove fluid. MRI scans, bone x-rays, and bone scans: Participants will lie in a machine that takes pictures of the body IQ tests Neurology exams Central line placement Skin biopsy: A small piece of the participant s skin will be removed. Speech tests Participants will have an x-ray while swallowing food. Participants will take drugs by mouth and IV. This will get their immune system ready for therapy. Participants will get the gene therapy by IV. They may stay at NIH for a week to watch for side effects. Participants will have visits 3 and 6 months after treatment. Then visits will be every 6 months for 2 years. Then they will have a visit at 3 years. Visits will take 4-5 days. Participants will return to NIH once a year for 2 years for tests in an extension study....

Type: Interventional

Start Date: Aug 2019

open study

Background: - Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, saliva, urine, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: - To collect hair, skin, saliva, urine, and/or blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: - Individuals affected with ocular condition is one year of age or older. - Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. - Unaffected individuals are seven years of age or older. Design: - The study requires one visit to the National Eye Institute. - Participants will be screened with a medical and eye disease history. They may also have an eye exam. - Participants will provide a hair sample, saliva sample, urine sample, blood sample, and/or a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.

Type: Observational

Start Date: Sep 2011

open study

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as Autoimmune polyendocrine syndrome type-1 (APS-1), is a disease that causes the immune system to attack parts of a person s body. In some people, APECED attacks the small intestine; this causes an illness called enteritis. Objective: To test a drug (emapalumab) in people with enteritis caused by APECED. Eligibility: People aged 2 to 75 years with APECED and enteritis. They must also be enrolled in protocol 11-I-0187. Design: Participants will have 10-13 study visits in an 18-month period. Participants will be screened. They will have a physical exam with blood tests. These tests will be repeated at every study visit. They will have a test of their heart function. This will be at screening and prior to drug administration. Other tests are optional: Participants may have imaging exams and a test of lung function. They may have an endoscopy, which is an exam of their digestive tract. Participants may provide samples of urine, stool, nail clippings, saliva, vaginal fluid, or skin. Photos may be taken of their skin or scalp. These tests may be repeated at some visits. Emapalumab is given through a tube attached to a needle inserted into a vein. All participants will receive 7 doses: 2 on their first study visit; then 1 each at 30-day intervals. Some participants will have an observation period before they begin taking the drug; in those situations, they will either be seen in person or via video visit every 2 months before starting emapalumab to see how their symptoms change over time. Participants will have a follow-up visit 1 month after their last dose. Then they will have 2 telehealth visits at 30-day intervals. They will have a final clinic visit 1 year after their first dose. ...

Type: Interventional

Start Date: Nov 2025

open study

Background: Studies suggest that overweight girls may be developing breast tissue, and therefore starting puberty, earlier than normal weight girls. However, it is hard to distinguish breast tissue from fatty tissue. Researchers think that by using breast ultrasound, among other tests, they can do a better job of telling whether an overweight girl has breast tissue. This will help them understand if overweight girls are truly entering puberty before normal weight girls. Objective: To find out if overweight girls go through puberty earlier than normal weight girls. Eligibility: Healthy girls 8-14 years old who: - Are normal weight or overweight - Have some breast development - Have not started their first period Design: Parents of participants will be screened over the phone. Most participants will have 1 visit. However, they can choose to have multiple visits within 4 weeks. The visit will include: - Physical exam that includes examination of the breasts and genital area - Breast ultrasound: A small hand-held device will be passed back and forth over the chest. It uses sound waves to create a picture of the breast tissue. - Pelvic ultrasound: A small, handheld device will be passed back and forth over the lower belly. It uses sound waves to create a picture of the ovaries. - Urine and blood test - A special x-ray called a DXA to measure the amount of fat in the body: The participant will lie still on a table while the x-ray takes pictures of the body. X-ray of the hand: The picture will tell researchers how mature the participant s bones are. Participants may be asked to come back 6 months later to repeat these tests. ...

Type: Observational

Start Date: Dec 2015

open study

Inflammatory or degenerative diseases of the brain and spinal cord, such as multiple sclerosis, may be related to problems with an individual s immune system. However, more information is needed on the ways in which the cells of the immune system interact with the central nervous system (CNS). This study will compare tests performed on both healthy volunteers and individuals who have signs or symptoms of immune-related damage to their CNS. This study will include two groups of subjects at least 12 years old. Subjects will either have symptoms of immune-related CNS damage, or will be healthy volunteers selected for comparison purposes. Study participants will visit the NIH Clinical Center on an outpatient basis for an initial evaluation visit. During the visit, patients will provide a comprehensive medical history and undergo a neurological examination, and will provide blood samples for research purposes. The healthy volunteers will be asked to schedule a return visit for a magnetic resonance imaging (MRI) procedure, and may be asked to undergo other tests requested by the study researchers on an as-needed basis. The group of patients with symptoms of immune-related CNS damage will be asked to undergo a series of tests, including the following: - MRI procedures, with a minimum of three brain MRIs and one spinal cord MRI taken approximately 4 weeks apart - A diagnostic lumbar puncture, performed on an outpatient basis - Tests of brain and vision activity - Additional blood and tissue samples Patients with symptoms of immune-related CNS damage may be offered the opportunity to participate in additional followup tests with NIH researchers. ...

Type: Observational

Start Date: Oct 2008

open study

BACKGROUND - This protocol acknowledges that it is in the interest of the NIH and ROB, as well as our participants, to continue to follow those who have been treated with radiotherapy at ROB and are not otherwise eligible for current active research protocols. - It also provides a mechanism for the correlation and interpretation of disparate data for research into the long term side effects and outcomes for a variety of disease entities and treatments, such as combined modality treatment, MoAb, PDT, radiation modifiers, intraoperative radiotherapy, etc. OBJECTIVE -The primary objective of this protocol is to assess the late effects of treatment and the natural history of disease through collection of data from any standard procedures performed as part of follow up care on participants previously treated with radiotherapy. ELIGIBILITY -Participants who received radiation therapy. DESIGN - This is a natural history protocol in which long-term follow up data will be collected from participants who received radiation therapy. - It will be made clear to participants in the consent form, that data collected during their follow-up may be used anonymously for publications concerning the natural history of disease processes and long-term effects of treatment.

Type: Observational

Start Date: Feb 2000

open study

Background: Small cell carcinoma of the bladder (SCCB) and other high-grade neuroendocrine tumors (HGNET) of the urinary tract are rare but aggressive cancers. Average survival for people diagnosed with SCCB or HGNET is about 1 year. Lurbinectedin and avelumab are drugs that are approved to treat other cancers. Researchers want to see if these drugs can help people with SCCB or HGNET. Objective: To test lurbinectedin with or without avelumab in people with SCCB or HGNET. Eligibility: Adults aged 18 years and older with SCBB or HGNET that returned and spread after treatment. Design: Participants will be screened. They will have a physical exam. They will have blood tests and imaging scans. They may need to have a new biopsy: A small needle will be used to collect a tissue sample from the tumor. Both study drugs are given through a tube attached to a needle inserted into a vein. If participants have already received a drug like avelumab they will receive only lurbinectedin. If patients have not been previously treated with a drug like avelumab they will receive both lurbinectedin and avelumab. All participants will receive their treatment once every 3 weeks for up to 10 years. They will also receive other drugs to relieve adverse effects. Biopsies, blood tests, and imaging scans will be repeated during some study visits. Participants may also have urine tests and tests of their heart function. Participants may remain in the study as long as the treatment is helping them. If they stop treatment, they will have safety visits 14, 30, and 90 days after their last dose. Additional follow-up visits will continue 5 to 10 years.

Type: Interventional

Start Date: Jun 2024

open study

Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS. Researchers want to learn more through this natural history study so they can develop better treatments. Objective: To study the natural course of MDS and MDS/myeloproliferative neoplasms (MPN) and collect biological samples that can help researchers understand the disease. Eligibility: People with suspected or confirmed MDS or MDS/MPN. Healthy donors are also needed. They can be people who are scheduled to donate bone marrow at NIH for a relative, or they may be providing bone marrow in another study. Design: Participants will be screened with a medical history. Participants will have a physical exam. They will give blood and urine samples. They will discuss their symptoms, medications, and ability to perform their normal activities. They will complete surveys about how they are feeling. Participants will have a bone marrow biopsy. A needle will be inserted through a small cut. Bone marrow will be removed. A small piece of bone may be removed. Participants may have an optional skin biopsy. Participants may give optional saliva and stool samples. They may collect these samples at home and mail them to NIH. Participants may undergo optional apheresis. One or two needles or intravenous (IV) lines will be placed in their arm, neck, or groin veins. Blood will be removed. A machine will separate out the white cells. The rest of the blood will be returned to the participant. Participants will be contacted for follow-up once a year for up to 20 years. Healthy donors will have marrow collected for this study during their scheduled procedure with no follow-up.

Type: Observational

Start Date: Aug 2022

open study

Background: Chronic hepatitis B virus (HBV) infection affects 292 million people worldwide; 887,000 die each year from cirrhosis, liver cancer, and related issues. Treatment options are limited. Objective: To test 2 drugs (VIR-2218 and peginterferon) in people with mild or inactive HBV infection. Eligibility: People aged 18 to 65 years with mild or inactive HBV infection. Design: Participants will be screened. They will have blood tests and an eye exam. They will have imaging scans of the liver to check the health of the liver. Participants will be in the study for over 2 years. VIR-2218 is an injection given under the skin of the stomach, upper arm, or thigh. Participants will come to the clinic to receive this injection once a month for 6 months. Peginterferon is also injected under the skin. Participants will have this shot once a week for 6 months. They may either inject themselves at home or come to the clinic to get the injections. Participants will get just the VIR-2218 for 3 months, then both shots for 3 months, then just the peginterferon for 3 months. Participants will have two 3-day stays in the hospital. Tests will include: Liver biopsy. A sample of tissue will be taken from their liver. After the procedure, participants will lie on their right side for 2 hours and then on their back for 4 hours. Fine needle aspiration. A small needle will be used to collect cells from the liver. After the last injection of peginterferon, follow-up visits will continue in the outpatient clinic every 4 to 12 weeks.

Type: Interventional

Start Date: Jan 2025

open study

Background: - About 15 million Americans have a food allergy. Because there are no cures or effective prevention or treatment for food allergies, researchers want to learn more about them. Objective: - To learn more about the causes and effects of food allergy and related conditions. Eligibility: - People ages 2 99 who have food allergy and/or a related genetic or other condition - Their relatives - Healthy relatives and volunteers Design: - Participants will have at least 3 visits over 1 2 years, and then once a year for up to 12 years. Each may last a day or longer. - Participants will be screened with medical history, physical exam, and questionnaires. - Participants may have the following: - Blood tests - Allergy skin prick tests: Drops of allergens are placed on the back or arm. The skin is scratched under each drop. - Leukapheresis: blood is taken from a needle in one arm, passed through a machine, and returned through a needle in the other arm. - X-rays - Esophageal string test: One end of a string is taped to the cheek and the other end is packed into a capsule. When the capsule is swallowed, the string unwinds; it is left in for at least 1 hour. - EGD and colonoscopy: Biopsies are taken from the gastrointestinal system. - Tiny biopsies of skin - Photographs of the body - Collection of cells through: - Swab of nose, inside of cheek, or skin - Gentle skin scrape - Tape stripping: piece of tape is put on the skin and pulled off.

Type: Observational

Start Date: Jul 2015

open study

This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID). Patients with immunodeficiencies may be eligible for this study. Candidates include: - Patients with diminished numbers of T cells or NK cells or both, or - Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function. Relatives of patients will also be studied. Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Type: Observational

Start Date: Apr 2004

open study

This study has four objectives: 1) to provide investigators the opportunity to study bone specimens from patients with various skeletal diseases; 2) to treat patients with skeletal diseases at the NIH; 3) to expose NIH trainees to certain skeletal diseases; and 4) to gain more knowledge about skeletal diseases and stimulate further study of bone biology. Anyone with a disease that affects the skeleton may be eligible for this study. All evaluations, tests, procedures and treatments given study participants are used in the standard care of skeletal diseases. No experimental evaluations or treatments are offered. Patient evaluations include a medical history, review of medical records and routine physical examination. Based on the findings, other procedures may be recommended, including blood tests, urine tests, and imaging tests, such as X-rays, bone densitometry, bone scan, computed tomography (CT) and magnetic resonance imaging (MRI). Bone specimens from participants will be collected for research use. Specimens will be obtained from bone removed during a patient s planned surgical procedure performed for medical care, or patients may be requested to have a bone biopsy removal of a small piece of bone tissue as part of the patient evaluation procedure.

Type: Observational

Start Date: Nov 2001

open study

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: Pheochromocytoma and paraganglioma are rare tumors. They usually form inside and near the adrenal gland or in the neck region. Not all these tumors can be removed with surgery, and there are no good treatments if the disease has spread. Researchers think a new drug may be able to help. Objective: To learn the safety and tolerability of Lu-177-DOTATATE. Also, to see if it improves the length of time it takes for the cancer to return. Eligibility: Adults who have an inoperable tumor of the study cancer that can be detected with Ga-68-DOTATATE PET/CT imaging Design: Participants will be screened with a medical history, physical exam, and blood tests. Eligible participants will be admitted to the NIH Clinical Center. Participants will get the study drug in an intravenous infusion. They will get 4 doses, given about 8 weeks apart. Between 4 and 24 hours after each study drug dose, participants will have scans taken. They will lie on their back on a scanner table. Participants will have vital signs taken. They will give blood and urine samples. During the study, participants will have other scans taken. Some scans will use a radioactive tracer. Participants will complete quality of life questionnaires. Participants will be contacted by phone 1-3 days after they leave the Clinical Center. They will then be followed every 3 to 6 months for 3 years or until their disease gets worse.

Type: Interventional

Start Date: Oct 2017

open study

Background: Glioblastoma (GBM) is a cancer of the brain. Current survival rates for people with GBM are poor; survival ranges from 5.2 months to 39 months. Most tumors come back within months or years after treatment, and when they do, they are worse: Overall survival drops to less than 10 months. No standard treatment exists for people whose GBM has returned after radiation therapy. Objective: To find a safe schedule for using radiation to treat GBM tumors that returned after initial radiation treatment. Eligibility: People aged 18 years and older with grade 4 GBM that returned after initial radiation treatment. Design: Participants will be screened. They will have a physical exam with blood tests. A sample of tumor tissue may be collected. Participants will undergo re-irradiation planning: They will wear a plastic mask over their head during imaging scans. These scans will pinpoint the exact location of the tumor. This spot will be the target of the radiation treatments. Participants will undergo radiation treatment 4 times per week. Some people will have this treatment for 3 weeks, some for 2 weeks, and some for 1 week. Blood tests and other exams will be repeated at each visit. Participants will complete questionnaires about their physical and mental health. They will answer these questions before starting radiation treatment; once a week during treatment; and at intervals for up to 3 years after treatment ends. Participants will have follow-up visits 1 month after treatment and then every 2 months for 6 months. Follow-up clinic visits will continue up to 3 years. Follow-ups by phone or email will continue an additional 2 years.

Type: Interventional

Start Date: Oct 2024

open study

Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Objective: To learn more about the signs, symptoms, and course of RYR1-related disorders. Eligibility: People aged 7 years and older with an RYR1-related disorder. Design: Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth. Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days. All participants will undergo tests including: Photos and videos. These will be taken to document the participant s condition. Blood and urine tests. Activity Tracker. Participants will wear a device to record their activity. Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics. Participants who visit the Clinical Center will also undergo: Tests of heart and lung function. Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip. Imaging scans. Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only). Eye exam

Type: Observational

Start Date: Mar 2025

open study

Background: Scientists have long used simple measures (such as height and weight) to estimate how much a person s body uses food (calories) as energy, as commonly called the metabolic rate. But metabolism varies among people with similar body sizes. Scientists now believe the old formulas for estimating metabolic rates may not work well for all people. Researchers want to find more accurate ways to measure a person s metabolism. Objective: This natural history study will examine the relationships between metabolism, body composition, and body surface area in a wide range of people. Eligibility: Healthy children and adults aged 2 years or older. Also, people aged 2 years or older with conditions that may alter metabolism. These may include diabetes, obesity, renal disease, or cancer. Design: Participants will spend 2 days and 1 night in the hospital. They will provide a medical history and answer questions about their activity levels, the foods they eat, and their lifestyle. They will also eat a special diet. Participants will undergo many tests: They will lie in a bed with a clear hood covering their head for 30 to 45 minutes to measure the gases in their breath. They will lie on a padded table for about 15 minutes while their body is scanned. They will stand on a platform while a 3D scanner measures their body. They will have a test to measure how fast an electric signal moves through their body. They will grip an instrument to measure the strength of their hands. They will drink salty water and provide blood and urine samples. Participants may be invited to return for these 2-day visits up to 8 times per year. Return visits must be at least 2 weeks apart.

Type: Observational

Start Date: Oct 2022

open study