Background: Sjogren disease is an autoimmune disease - that is, a disease that causes the body's immune system to attack its own organs and tissues. Sjogren disease can affect the kidneys, lungs, or other organs. It can also cause dry mouth and eyes, fever, joint pain, rashes, and other symptoms. Researchers want to know if a drug approved to treat rheumatoid arthritis and other autoimmune diseases can help people with Sjogren disease. Objective: To test a drug (tofacitinib) in people with Sjogren disease. Eligibility: People aged 18 to 75 years with Sjogren disease. They must be enrolled in protocol 15-D-0051. Design: - Participants will be screened. They will have a physical exam with blood and urine tests. They will give samples of saliva; a small sample of tissue will be taken from a salivary gland. They will have a test of their heart function. They will have an eye exam, including a test for dry eyes. - Tofacitinib is a tablet taken by mouth. Participants will take the drug twice a day at home. - Participants will have 9 clinic visits over 28 weeks. Each visit will take up to 5 hours. In addition to repeated tests, they will have tests of the speed and pressure of blood flow through their body. They will complete health questionnaires throughout the study. - Participants will also have 5 phone visits during the study. They will review their health and study treatments. - They will have 1 final visit after they stop taking the drug.

Type: Interventional

Start Date: Dec 2025

open study

Background: The adrenal glands are 2 small organs that sit on top of each kidney. They release hormones; these are chemicals that control how the body works. Tumors on or outside the adrenal glands are called functional if they release hormones; they are called nonfunctional if they do not. Doctors who treat adrenal tumors need to know which type a person has. Researchers want to find better ways to learn whether an adrenal tumor is functional. Objective: To see if a new radioactive tracer ([68Ga]Ga-PentixaFor) can make it easier to identify functional adrenal tumors with positron emission tomography (PET) scans. Eligibility: People aged 18 years and older with 1 or more adrenal tumors. They must have increased levels of the hormones aldosterone or cortisol. They must also be enrolled in at least 1 other related NIH study (protocols 19-DK-0066, 18-CH-0031, or 09-C-0242). Design: Participants will be screened. They may have imaging scans. Their ability to perform normal activities will be reviewed. Participants will have one PET scan with the study tracer. The tracer will be given through a tube attached to a needle inserted into a vein. Participants will receive the tracer 1 hour before the scan. They will lie still on a bed while a machine captures images of the inside of their body. The scan will take 45 to 90 minutes. Participants heart rate, blood pressure, and rate of breathing will be checked before, during, and after the scan. Participants will have a follow-up visit 3 days after their scan. This visit can be by phone, email, or in person.

Type: Interventional

Start Date: Sep 2024

open study

Objective: To collect information and biospecimens (such as blood, muscle, and skin samples) that will be used to research causes and treatments of inflammatory muscle diseases. Eligibility: People aged 2 years and older with suspected or confirmed inflammatory muscle disease. Healthy volunteers aged 18 years and older are also needed. Design: Participants will have at least 1 clinic visit. Each visit will last 4 to 8 hours. Some may return for additional visits. All participants will undergo these procedures (unless they are unable to): - Physical exam, including blood and urine tests. - Magnetic resonance imaging (MRI) scan of the thigh. Participants will lie still on a table with padding around 1 thigh. The table will slide into a tube. The scan will last for approximately 40 minutes. Some procedures are optional: - Muscle biopsy: An area of skin will be numbed. A quarter-inch cut will be made. Several pieces of muscle tissue, about the size of grains of rice, will be removed. - Skin biopsy: An area of skin will be numbed. A piece of skin about a quarter inch in diameter will be removed. - Lymph node biopsy: A small sample of fluid or tissue from a lymph node will taken to check for infection. - Genetic testing. Some of the samples collected may be used for genetic testing.

Type: Observational

Start Date: Jun 2023

open study

Background: Diffuse gliomas are tumors that affect the brain and spinal cord. Gliomas that develop in people with certain gene mutations (IDH1 or IDH2) are especially aggressive. Better treatments are needed. Objective: To see if a study drug (zotiraciclib) is effective in people with recurrent diffuse gliomas who have IDH1 or IDH2 mutations. Eligibility: People aged 15 years and older with diffuse gliomas that returned after treatment. They must also have mutations in the IDH1 or IDH2 genes. Design: Participants will be screened. They will have a physical exam with blood and urine tests. They will have tests of their heart function. They will have an MRI of their brain. A new biopsy may be needed if previous results are not available. Zotiraciclib is a capsule taken by mouth with a glass of water. Participants will take the drug at home on days 1, 4, 8, 11, 15, and 18 of a 28-day cycle. They may also be given medications to prevent side effects of the study drug. The schedule for taking the study drug may vary for participants who will undergo surgery. Participants will be given a medication diary for each cycle. They will write down the date and time of each dose of the study drug. Participants will visit the clinic about once a month. They will have a physical exam, blood tests, and tests to evaluate their heart function. An MRI of the brain will be repeated every 8 weeks. Participants may remain in the study for up to 18 cycles (1.5 years).

Type: Interventional

Start Date: May 2023

open study

Background: Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal brain infection caused by the JC virus. The JC virus is common. More than half of adults have been exposed to it. Most people do not get sick from the JC virus, but in people with weakened immune systems, it can cause PML. Brincidofovir (BCV) is an antiviral drug approved to treat smallpox. Researchers want to know if it can help people with PML. Objective: To test BCV in people with PML. Eligibility: People aged 18 years or older with PML. Design: Participants will be screened. They will have a physical exam with blood tests. They will have an imaging scan of the brain with contrast dye. They will have a lumbar puncture (spinal tap): A thin needle will be inserted into their lower back to draw out a sample of the fluid around their spinal cord. BCV will be given through a tube attached to a needle inserted into a vein. Participants will receive the drug 2 times a week for 4 weeks (this is 1 cycle). If the drug is helping them, they may have up to 3 drug cycles (12 weeks). Imaging scans, spinal taps, and other tests will be repeated after every 4 weeks of treatment. Participants will have 6 follow-up visits in 1 year after treatment ends. The imaging scan, spinal tap, and other tests will be repeated at each visit.

Type: Interventional

Start Date: Jun 2026

open study

Background: Tics are involuntary movements and vocalizations. Some tics are organic: They are related to diagnosed disorders. Sometimes tics have other causes, such as problems with how the brain and body send and receive messages. These are called functional tics. It can be difficult to tell the difference between these 2 types of tics. Doctors need to know more so they can make more accurate diagnoses. Objective: To learn more about the difference between functional and organic tics. Eligibility: Adults aged 18 to 80 years who have a tic that causes involuntary movements. Healthy volunteers with no tics are also needed. Design: Participants will have one 4-hour clinic visit. The visit may be done in 1 or 2 days. Participants will refrain from consuming alcohol or caffeine before the visit. They may have a physical exam. Participants will wear two types of sensors: Electromyography (EMG): Adhesive disks with sensors will be attached to the skin above some muscles. These disks will record electricity in the muscles as the participant moves. Electroencephalography (EEG): Sensors will be placed on the participant s scalp. The sensors may be adhered directly, or the participant may wear an electrode cap. The sensors will detect brain waves. Participants will rest while seated in a chair. Their involuntary tics will be monitored with the EMG and EEG. Then they will be asked to make movements to mimic their tics. Healthy volunteers will also rest; then they will be asked to perform movements that mimic tics. Participants will have their blink reflex tested. EMG sensors will be placed on the muscles near the eyes. Electrical pulses will be used to stimulate blinking. Participants will answer questionnaires about their tics and their health....

Type: Observational

Start Date: Jul 2026

open study

Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation. Objective: To find out why people with certain conditions have can have premature ovarian insufficiency (POI or early menopause) and individuals with variations in sex characteristics have trouble getting pregnant and if freezing the gonads tissue from them will help to have their own child in the future. Eligibility: Individuals aged 2-21 who have Turner Syndrome or galactosemia. Also, females aged 13-21 with premature ovarian insufficiency, individuals with variations in sex characteristics, and individuals 2-35 receiving high-risk gonadotoxic therapy Design: Participants will be screened with a medical history. Participants may have a physical exam and blood tests. Their body measurements may be taken. These include weight, height, arm span, skin fold, and sitting height. They may fill out surveys about their quality of life, body image, and health. Participants may have a transabdominal pelvic ultrasound. A probe will be placed on their belly and will take pictures of the organs in the pelvis. They may have a transvaginal pelvic ultrasound performed while asleep in the operating room if needed. Participants may have surgery to remove an gonads and skin biopsy. The removed tissue will be frozen and stored. The tissue will have to be stored for many years. NIH will pay to store the tissue for 1 year. After that, participants will have to pay for storage. A piece of the gonads (no more than 20%) will be used for research Travel, lodging and meals for participants traveling greater than 50 miles will be reimbursed based off the government rate. Local participants will not be reimbursed. Participants will have a checkup 6 weeks after surgery one or more follow-up visits 6-18 months after surgery. They may have phone follow-up every 12-24 months after surgery. Participation will last 30 years.

Type: Observational

Start Date: Sep 2021

open study

Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD. Objective: To learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment. Eligibility: People any age with a suspected or confirmed RUNX1 variant People who have a family member with the variant Design: All participants will be screened with a phone call and a blood, saliva, or cheek cell sample. Participants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year. Visits will include: - Medical history and physical exam - Blood tests or saliva sample - Possible skin biopsy: A small piece of the participant s skin will be removed. - Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone. - Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body. Between visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs. Samples from all participants may be used for genetic testing

Type: Observational

Start Date: Mar 2019

open study

Background: Endocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders. Objective: To study the inheritance of endocrine or metabolism disorders. Eligibility: Children ages 3month-18 with known or suspected endocrine or metabolism disorders. Family members ages 3months-100. They may participate in the DNA part of the study. Design: Participants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released. Participants will have a clinic visit. This may include a physical exam and medical history. Parents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include: Blood, urine, and saliva tests Growth hormone test Pituitary and adrenal function tests Picture of chromosomes Imaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey. Genetic tests Sleep study Medical photographs If surgery is done, a tissue sample will be taken. Participants may have follow-up visits for diagnosis and treatment. Participating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.

Type: Observational

Start Date: Jul 2016

open study

Background: - Radiation is a common treatment for prostate cancer. It helps damage tumor cells and causes them to die. Radiation can be effective, but some tumors may be harder to treat with radiation or even with surgery. This happens to a small number of men who have either radiation or surgery for prostate cancer. Most men who have these hard-to-treat tumors do not know if the tumor has recurred only in the prostate or has spread to another area. Also, men whose prostate cancer has recurred only after radiation may have different treatment options. This study will use improved imaging studies to better understand why some men do not respond as well to initial radiation treatments. Objectives: - To use detailed imaging studies to look at the results of local radiation therapy for prostate cancer. Eligibility: - Men at least 18 years of age who are scheduled to have radiation for prostate cancer. - Men at least 18 years of age whose prostate cancer has returned after earlier treatments. Design: - All participants will have a medical history and physical exam. Blood and urine samples will be collected. Imaging studies will be used to evaluate the cancer at the start of the study. - All participants will have an initial full magnetic resonance imaging (MRI) scan of the prostate. Tumor and healthy tissue samples will be collected. - Those whose cancer has recurred after treatment will discuss possible treatment options with the study doctors. - Participants who are scheduled to have radiation will have radiation therapy. This will be given according to the current standard of treatment. - After radiation, participants will have regular follow-up tests and imaging studies. They will have another full MRI scan 6 months after the end of radiation treatment.

Type: Observational

Start Date: Nov 2013

open study

The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.

Type: Observational

Start Date: Oct 2001

open study

BTX has been used since the 1980s in support of the research mission of NINDS. Initial studies were focused on expanding the applicability of BTX treatment to movement disorders and exploring new indications. We evaluated the efficacy of an alternative serotype, type F. Under other protocols, we continue to study the physiology of movement disorders and BTX response. The application of BTX therapy to movement disorders requires an understanding of BTX preparation and handling. The treatment must be tailored to the disorder under treatment and to its expression in the individual patient. Users must know the specific techniques of injection, including the use of EMG and ultrasound guidance. This protocol allows us to train physicians in all aspects of the use of BTX. It also provides us with a cohort of patients, receiving a standard method of treatment and with a stable response to BTX injection, for participation in other protocols on movement disorders and on the responses to BTX injection.

Type: Observational

Start Date: Oct 1989

open study

Background: Helicobacter pylori is a bacterium that infects the lining of the stomach and intestines. It can cause peptic ulcers, cancers, and infections. Current methods of diagnosing H. pylori infections have limitations. Researchers want to test a new method of testing for H. pylori. Objective: To compare the esophageal string test (EST) to standard tests for detecting H. pylori infection. Eligibility: People aged 18 years or older with persistent H. pylori infection. Design: Participants will have 3 or 4 clinic visits over 2 to 4 months. Screening visit: Participants will have a physical exam. They will provide a stool sample. Baseline visit: Participants will have blood tests. Then they will have the EST: One end of a string will be taped to the outside of their cheek; the other end will be packed into a capsule. Participants will swallow the capsule, and the string will unwind down their throat into their stomach. The string will be left in for at least 1 hour. Then researchers will gently pull out the string. The fluids soaked into the string will be studied. Some participants will be prescribed antibiotics. Follow-up visit 1: Participants whose H. pylori infection was cured by the antibiotics may leave the study. Those who are still infected will have an endoscopy: A flexible tube will be inserted down the throat and into the stomach. It will take tissue samples from the stomach lining. These participants will then receive antibiotics again. Follow-up visit 2: The physical exam, blood test, and stool sample will be repeated. ...

Type: Interventional

Start Date: Jun 2025

open study

Background: Atopic dermatitis (AD), also called eczema, makes skin dry, red, and itchy. People with AD are more likely to get a food allergy than people without AD. But some food allergy tests are not always accurate in people with AD. Researchers want to study if people are truly allergic to milk and/or peanuts. Objectives: To improve the ways doctors test for food allergy in people with AD. Eligibility: People ages 3-21 who have had AD; have a high total IgE level (an allergic antibody); might have a milk and/or peanut allergy; and are currently enrolled in another NIH study Design: Participants will be screened under another protocol. Participants will have a physical exam, blood tests, and medical history. Participants will breathe into a plastic device that measures lung strength. Participants may get a small plastic tube inserted in their arm. Participants who have not had an allergic reaction to food in the past 3 years will do 1 or more oral food challenge (OFCs) depending on their allergies. They will eat a little bit of the food they might be allergic to. They will be watched for a reaction. If they have one, they will know for sure they are allergic. They may keep eating bigger portions of the food until they either have a reaction or finish all the food. In some OFCs, participants will get a placebo food. OFCs will last a few hours or 2 days. Participants will repeat all tests at each OFC. Participation can last up to 12 months. ...

Type: Interventional

Start Date: Apr 2019

open study

This protocol is being established to cover the evaluation of patients with inflammatory and/or infectious diseases which are not covered under previously existing protocols. The purpose of such a protocol is that frequently patients are referred to us with either diagnosed or undiagnosed illnesses which would be of interest to our teaching program or which would serve as a source of patients to subsequently be entered into established, ongoing protocol studies. Such patients will be admitted to the protocol and handled according to accepted medical practice of diagnosis and treatment.

Type: Observational

Start Date: Feb 1978

open study

This is a Phase I/II non-randomized clinical trial of ex vivo hematopoietic stem cell (HSC) gene transfer treatment for X-linked severe combined immunodeficiency (XSCID, also known as SCID-X1) using a self-inactivating lentiviral vector incorporating additional features to improve safety and performance. The study will treat 35 patients with XSCID who are between 2 and 50 years of age and who have clinically significant impairment of immunity. Patients will receive a total busulfan dose of approximately 6 mg/kg/body weight (target busulfan Area Under Curve is 4500 min*micromol/L/day) delivered as 3mg/kg body weight on day 1 and dose adjusted on day 2 (if busulfan AUC result is available) to achieve the target dose, to condition their bone marrow, and this will be followed by a single infusion of autologous transduced CD34+HSC. Patients will then be followed to evaluate engraftment, expansion, and function of gene corrected lymphocytes that arise from the transplant; to evaluate improvement in laboratory measures of immune function; to evaluate any clinical benefit that accrues from the treatment; and to evaluate the safety of this treatment. The primary endpoint of the study with respect to these outcomes will be at 2 years, though data relevant to these measures will be collected at intervals throughout the study and during the longer follow-up period of at least 15 years recommended by the Food and Drug Administration (FDA) Guidance "Long Term Follow-Up After Administration of Human Gene Therapy Products" https://www.fda.gov/media/113768/download for patients participating in gene transfer clinical trials. XSCID results from defects in the IL2RGgene encoding the common gamma chain (yc) shared by receptors for Interleukin 2 (IL-2), IL-4, IL-7, IL-9, IL-15 and IL-21. At birth XSCID patients generally lack or have a severe deficiency of T-lymphocytes and NK cells, while their B- lymphocytes are normal in number but are severely deficient in function, failing to make essential antibodies. The severe deficiency form of XSCID is fatal in infancy without intervention to restore some level of immune function. The best current therapy is a T-lymphocyte-depleted bone marrow transplant from an HLA tissue typing matched sibling, and with this type of donor it is not required to administer chemotherapy or radiation conditioning of the patient's marrow to achieve excellent engraftment and immune correction of an XSCID patient. However, the great majority of patients with XSCID lack a matched sibling donor, and in these patients the standard of care is to perform a transplant of T- lymphocyte depleted bone marrow from a parent. This type of transplant is called haploidentical because in general a parent will be only half- matched by HLA tissue typing to the affected child. Whether or not any conditioning is used, haploidentical transplant for XSCID has a significantly poorer prognosis than a matched sibling donor transplant. Following haploidentical transplant, XSCID patients are observed to achieve a wide range of partial immune reconstitution and that reconstitution can wane over time in some patients. That subset of XSCID patients who either fail to engraft, fail to achieve adequate immune reconstitution, or lose immune function over time suffer from recurrent viral, bacterial and fungal infections, problems with allo- or autoimmunity, impaired pulmonary function and/or significant growth failure. We propose to offer gene transfer treatment to XSCID patients^3 >= 2 years of age who have clinically significant defects of immunity despite prior haploidentical hematopoietic stem cell transplant, and who lack an HLA-matched sibling donor. Our current gene transfer treatment protocol can be regarded as a salvage/rescue protocol. Prior successful retroviral gene transfer treatment instead of bone marrow transplant (BMT) in Paris and London for 20 infants with XSCID has provided proof of principle for efficacy. However, a major safety concern is the occurrence of 5 cases of leukemia at 3-5 years after treatment triggered in part by vector insertional mutagenesis activation of LMO2 and other DNA regulatory genes by the strong enhancer present in the long-terminal repeat (LTR) of the Moloney Leukemia Virus (MLV)- based vector. Furthermore, previous studies of gene transfer treatment of older XSCID patients with MLV- based vectors demonstrated the additional problem of failure of adequate expansion of gene corrected T- lymphocytes to the very high levels seen in infants. To reduce or eliminate this leukemia risk, and possibly enhance performance sufficiently to achieve benefit in older XSCID patients, we have generated a lentivector with improved safety and performance features. We have generated a self-inactivating (SIN) lentiviral vector that is devoid of all viral transcription elements; that contains a short form of the human elongation factor 1a (EF1a) internal promoter to expres...

Type: Interventional

Start Date: Sep 2012

open study

This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial. Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center. - Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests. - Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle. - Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen. - Hearing tests. - Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken. - Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test. - Psychometric testing: Patients complete questionnaires. - Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name. - Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.

Type: Observational

Start Date: Aug 2006

open study

Background: Kohlmeier-Degos (KD) is a rare disease that causes inflammation and blood clots, leading to blockages in small blood vessels. These blockages can result in K-D lesions throughout the body, affecting the skin, lungs, heart, spinal cord, and brain. KD can be fatal. No treatment exists for this disease. Objective: To test a study drug (baricitinib) in people with brain and spine lesions caused by KD disease. Baricitinib is FDA approved to treat other disorders but has not yet been tried in people with KD. Eligibility: People aged 18 years or older with KD-related lesions in the brain and spine. Design: Participants will be screened; they will have a physical exam with blood tests. They will also have a baseline visit that may include multiple tests, such as imaging scans of the brain and spine; a lumbar puncture to collect fluid from the spinal canal; and a meeting with a neurologist. They will fill out a questionnaire about their health. They will continue to take their normal medications throughout the study. Baricitinib is a tablet taken by mouth. Participants will remain on their normal medications for 12 weeks after their baseline visit. Then they will also take the study drug once a day at home for 24 weeks. Participants will have clinic visits every few weeks for up to 40 weeks. Some visits may take 1 to 4 days. Baseline tests will be repeated 3 more times during study visits. Other visits will require only blood tests; these may be done by local labs that will send the samples to NIH; 2 visits may be done via telehealth....

Type: Interventional

Start Date: Feb 2026

open study

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA. Objective: To see if a study drug (ruxolitinib) can help hair regrowth in people with APECED-associated AA and if it can improve other symptoms caused by the immune system s attack to the body. Eligibility: People aged 12 to 65 years with APECED and severe AA. Design: Participants will be in this study for up to 10 months. They will have 5 in-person visits and 6 televisits, each about 4 weeks apart. One in-person visit may be up to a 10-day stay in the hospital. The first in-person visit will include screening. Participants will have a physical exam. They will have blood tests. Photographs may be taken of their skin. They will answer questions about their quality of life. Participants will begin taking the study drug during their hospital stay. They will take the pills by mouth twice a day for 8 months. Researchers may take tissue samples from participants scalp, gums, and lower lip. Participants may provide samples of urine, stool, nail clippings, and saliva. They may have an eye exam and an ultrasound exam of their abdomen. Some tests may be repeated in subsequent in-person visits. In telehealth visits, participants will answer questions about how they are feeling. They will describe and send photos of hair regrowth. They will be asked to have blood drawn and the results sent to the researchers.

Type: Interventional

Start Date: Jan 2023

open study

Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring. Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers. Researchers want to follow people with these mutations to learn more. Objective: To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time. Eligibility: People age 30 and older who are suspected to have a BAP1 germline mutation. Design: Participants will be screened with a personal and family medical history. Their medical records may be reviewed. They will give a blood or saliva sample to test for a BAP1 mutation. They will get genetic counseling. To take part in this study, participants will enroll on 2 to 3 other protocols. Participants will have a physical exam. They may have a tumor biopsy. They will give blood and urine samples. They will have skin and eye exams. Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas. For this, a small camera is inserted into the chest through a small incision. Some participants will have laparoscopy to examine the organs inside the abdomen. For this, a small camera is inserted into the abdomen through a small incision. Participants will have imaging scans of the chest, abdomen, and pelvis. They may have brain scans. Participants will visit the NIH once a year for follow-up exams. Participation lasts indefinitely.

Type: Observational

Start Date: Mar 2021

open study

The Hematology Branch of the National Heart, Lung, and Blood Institute is doing a variety of laboratory research experiments that require blood and tissue samples from healthy volunteers. This protocol provides a mechanism for collecting these tissue samples. Research includes studies of normal and abnormal formation of blood cells, viral blood diseases, the role of the immune system in marrow failure and genetic risk factors for aplastic anemia. Healthy normal volunteers 8 years of age and older may be eligible for this study. Samples are collected as follows: - Blood samples: Participants 8 years of age and older donate up to 4 tablespoons of blood, which is obtained from a needle placed in an arm vein. - Participants 8 years of age and older donate a buccal mucosa sample (cells from the inside of the cheek). The inside of the cheek is scraped gently with a nylon brush. - Participants 18 years of age and older donate a bone marrow sample. The bone marrow is obtained from the hip bone. The skin over the area is wiped clean with alcohol and iodine, and then a local anesthetic is injected under the skin and also into the bone. When the area is numb, a bone marrow aspiration needle is introduced through the bone surface into the marrow. The marrow cells are collected using a syringe connected to the needle.

Type: Observational

Start Date: Mar 2007

open study

The proposed study aims to evaluate, investigate, and follow-up patients suffering from acute and chronic liver disease. The study will focus on understanding diseases affecting the liver. Patients participating in the study will first undergo a routine check-up as an outpatient. They will be asked to provide blood and urine samples for laboratory testing and will undergo an ultrasound of the liver. Ultrasound examinations use sound waves to determine the size and texture of the liver. After the initial visit subjects will be requested to follow-up once a year at the outpatient department for a similar check-up. Additional tests may be requested throughout the study to provide information for other research studies and individual consent will be requested. These tests may include liver biopsies, skin biopsies, and / or specialized blood, plasma, and lymphocyte examinations. Subjects that qualify for medications presently being studied may be offered the opportunity to benefit from experimental therapy.

Type: Observational

Start Date: May 1992

open study

Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions. Objective: To gain more information about the causes of skeletal disorders and how they progress over time. Eligibility: People ages 2 months or older with known or suspected skeletal disorders or history of pregnancy affected by skeletal findings. Also, healthy family members of affected enrolled participants. Design: Participants can take part in the study either remotely or in person. Those who take part remotely may send in medical records, blood samples, photographs, and other materials. Participants medical records will be reviewed. They may give blood and/or urine samples. They will give blood, saliva, or tissue samples for genetic tests. They may have genetic counseling. Participants ages 2 years and older may have different kinds of imaging scans, such as x-rays. For these scans, they may have to lie still while machines take pictures of their bones. Participants with skeletal disorders who come to the clinic will be examined. They may be asked to stay in the hospital for a few days to take extra tests. They may have a bone or skin biopsy. Participants with skeletal disorders may be photographed to show the effects of their disorder and how it changes over time. For participants with skeletal disorders, their blood or tissue samples may be used to make a special type of stem cell. These cells can be used in the laboratory to make many other types of cells. A large supply of these cells may be created for research. Participation will last indefinitely.

Type: Observational

Start Date: Jan 2022

open study

Background: - Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings). Objectives: - To study the genes associated with MAC. Eligibility: - Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling). Design: - Participants will have a physical exam and medical history. They will also have a full eye exam. - Participants with MAC may have other exams, such as imaging studies and hearing assessments. - All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.

Type: Observational

Start Date: Jan 2013

open study

Background: PDE4B is a protein in cells that helps turn off certain chemical signals after they ve done their job. It controls inflammation, immune responses, and some brain signaling. Measuring PDE4B levels in the body can help doctors manage a disease or know if a treatment is working. Researchers want to find out if a new tracer (a radioactive substance injected during imaging scans) can help them measure PDE4B in people more effectively. Objective: To test a new tracer ([11C]ZTP-1) during imaging scans of the brain and body in healthy people. Eligibility: Healthy people aged 18 and older. They must have been screened under protocols 01M-0254 or 17M0181. Design: Participants will have either 1 or 2 clinic visits. During their first visit, all participants will have a positron emission tomography (PET)/computed tomography (CT) scan. Prior to the scan, they will have blood and urine tests and a test of their heart function. The study tracer will be given through a tube attached to a needle inserted into a vein in the arm. They will lie on a padded bed that fits inside a doughnut-shaped machine; the machine uses x-rays to create images of the inside of the body. Some participants will have a PET/CT scan of their whole body. They will need only 1 visit. The visit will last up to about 8 hours. Some participants will have a PET/CT scan of only their brain. They will also have a magnetic resonance imaging (MRI) scan of the brain. They may need to return for a second visit for the MRI scan. Participants will receive a follow-up call to check on their well-being after their PET/CT scans.

Type: Interventional

Start Date: Jul 2026

open study