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NIAID Centralized Sequencing Protocol
National Institute of Allergy and Infectious Diseases (NIAID)
Atopy
Primary Immunodeficiency
Autoimmunity
Autoinflammation
Background:
Genetic testing called "sequencing" helps researchers look at DNA. Genes are made of DNA
and are the instructions for our bodies to function. We all have thousands of genes. DNA
variants are differences in genes between two people. We all have lots of variants. Most
are harmless and so1 expand
Background:
Genetic testing called "sequencing" helps researchers look at DNA. Genes are made of DNA
and are the instructions for our bodies to function. We all have thousands of genes. DNA
variants are differences in genes between two people. We all have lots of variants. Most
are harmless and some cause differences like blue or brown eyes. A few variants can cause
health problems.
Objective:
To understand the genetics of immune disorders various health conditions, as well as
outcomes of clinical genomics and genetic counseling services performed under this
protocol.
Eligibility:
Participants in other NIH human subjects research protocols - either at the NIH Clinical
Center (CC) or at Children s National Health System (CNHS) - (aged 0-99 years), and, in
select cases, their biological relatives
Design:
Researchers will study participant s DNA extracted from blood, saliva, or another tissue
sample, including previously collected samples we may have stored at the NIH. Researchers
will look at participant s DNA in great detail. We are looking for differences in the DNA
sequence or structure between participants and other people.
Participants will receive results that:
- Are important to their health
- Have been confirmed in a clinical lab
- Suggest that they could be at risk for serious disease that may affect your current
or future medical management.
Some genetic information we return to participants may be of uncertain importance.
If genetic test results are unrelated to the participant s NIH evaluations, then we will
not typically report:
- Normal variants
- Information about progressive, fatal conditions that have no effective treatment
- Carrier status (conditions you don t have but could pass on)
The samples and data will be saved for future research.
Personal data will be kept as private as possible.
If future studies need new information, participants may be contacted.
Type: Observational
Start Date: Jul 2017
open study
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Use of Cysteamine in the Treatment of Cystinosis
National Human Genome Research Institute (NHGRI)
Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is
no known cure for cystinosis, although kidney transplantation may help the renal failure
and prolong survival. Both the kidney damage and growth failure are thought to be due to
the accumulation of the amino ac1 expand
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is
no known cure for cystinosis, although kidney transplantation may help the renal failure
and prolong survival. Both the kidney damage and growth failure are thought to be due to
the accumulation of the amino acid cystine within the cells of the body. The cystine
storage later damages other organs besides the kidneys, including the thyroid gland,
pancreas, eyes, and muscle.
The drug cysteamine (Cystagon; ProCysBi) is an oral medication given to patients with
cystinosis prior to kidney transplantation. The drug works by reducing the level of
cystine in the white blood cells and muscle tissue. The drug may also decrease levels of
cystine in the kidneys and other tissues.
This study has several goals:
1. Long-term surveillance of cysteamine treated patients.
2. Detection of new non-kidney complications of cystinosis.
3. Maintenance of a patient population for genetic testing (mutational analysis) of the
cystinosis gene.<TAB>
...
Type: Observational
Start Date: Jan 1979
open study
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Platelet Volunteers, Longitudinal and Multi-omic Study
National Heart, Lung, and Blood Institute (NHLBI)
Thrombosis
Background:
Platelets are a type of blood cell that play a critical role in bleeding, forming blood
clots, and healing. Researchers want to know more about platelets work in healthy people.
They want to look at how platelets clump together, how blood clots, and how genes and
proteins work. They al1 expand
Background:
Platelets are a type of blood cell that play a critical role in bleeding, forming blood
clots, and healing. Researchers want to know more about platelets work in healthy people.
They want to look at how platelets clump together, how blood clots, and how genes and
proteins work. They also want to study how these processes change over time and how they
are affected by factors such diet, exercise, weight, and new health problems.
Objective:
To study how platelets function in healthy people.
Eligibility:
Healthy people aged 18 years and older.
Design:
Researchers will review participants medical history. They will ask about the participant
s family history and any drugs they take.
Participants will have a clinic visit once every 6 or 7 months for 10 years. Each visit
will be 2 to 3 hours.
At each visit, participants will have several tests and procedures:
A physical exam, including vital signs. Hip and ankle circumference will be measured.
Urine collection.
Blood tests. About 10 tablespoons of blood will be drawn. Participants will be asked to
fast for 10 hours and avoid drugs like aspirin or Advil for 7 days before each draw. Some
of the blood may be used for gene studies. Some may be used to create stem cells for
research. Stem cells are cells that can be used to make other types of cells.
Surveys and questionnaires. Participants will answer questions about habitual activity,
diet, smoking, drugs and alcohol, sleep, illness, and other health issues. These surveys
may be done online, via email, or by phone.
Type: Observational
Start Date: Mar 2026
open study
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Dietary Intake and Dietary Behaviors in Adults With Sickle Cell Disease
National Institutes of Health Clinical Center (CC)
Sickle Cell Disease
Background:
Sickle Cell Disease (SCD) causes blood cells form a crescent shape. It is caused by a
genetic mutation in the hemoglobin gene. People with SCD are at increased risk for
illnesses like stroke, chronic pain, and heart problems, as well as decreased overall
health and well-being. Research1 expand
Background:
Sickle Cell Disease (SCD) causes blood cells form a crescent shape. It is caused by a
genetic mutation in the hemoglobin gene. People with SCD are at increased risk for
illnesses like stroke, chronic pain, and heart problems, as well as decreased overall
health and well-being. Researchers want to learn more about how nutrition and diet can
help relieve or reduce the symptoms of SCD.
Objective:
To understand how diet, dietary patterns and behaviors, nutrition, and other related
factors in adults with SCD affect their overall health.
Eligibility:
Adults aged 18 and older with SCD.
Design:
Participants will be screened with a review of their medical records. They will take a
pregnancy test if needed.
Participants will have a physical exam and medical history. Their height, weight, and
waist and hip circumference will be measured. They can complete this exam (1) via
telehealth along with a visit to an outpatient laboratory center or (2) by going to the
NIH Clinical Center.
Participants will complete 2 interviews about their diet. They will talk about the foods
they ate in the past 24 hours. They will also complete 1 interview about diet-related
behaviors such as food shopping and cooking. They can complete the interviews in person,
by phone, or by telehealth visit.
Participants will complete surveys about their demographics (such as age and gender), SCD
pain, mood, stress, diet, and nutrition. It may take about 1 hour to complete all of the
surveys.
Participants will give blood and urine samples. They will need to fast for at least 8
hours overnight before giving blood samples.
Participation will last for about 2 weeks.
Type: Observational
Start Date: May 2022
open study
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Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Ons1
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Still's Disease, Adult-Onset
Systemic Inflammation
Arthritis
Autoinflammatory Syndrome
Background:
Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic
juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still
s disease (AOSD). Their causes are unknown. Researchers want to learn more about these
conditions. This include1 expand
Background:
Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic
juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still
s disease (AOSD). Their causes are unknown. Researchers want to learn more about these
conditions. This includes genetic changes and environmental factors.
Objective:
To study sJIA and AOSD in children and adults over time.
Eligibility:
People with known or suspected sJIA, AOSD, or similar inflammatory condition
Design:
Participants will be screened with a phone call.
Participants will have 1 visit. It may be outpatient or they may be admitted to the
clinic. The visit may last up to 5 days. Participants will have:
- Medical history
- Physical exam
- Musculoskeletal exam
- Questions about overall health and quality of life, disease activity, functional
status, and cognitive ability.
Participants may also have:
- Pictures taken of their skin, joints, or spine
- Blood, urine, and stool tests
- Scans or X-rays of joints with arthritis
- Chest X-ray
- Heart tests
- Skin biopsy. The skin will be numbed. The top layers of a small area will be scraped
off.
Participants who have a joint aspiration may provide a fluid sample. The joint will be
prepared, then fluid is removed by needle. A corticosteroid may be injected.
Participants who have a bone marrow biopsy may provide sample cells.
Participants may be seen by NIH specialists.
Members of the participant s family and healthy volunteers may give blood or saliva
samples for genetic testing.
Participants may repeat some study tests every 6 months.
Type: Observational
Start Date: May 2018
open study
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Physical and Behavioral Traits of Overweight and Obese Adults
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Obesity
Healthy Volunteers
This study will describe the phenotype (physical and behavioral traits) of overweight and
obese people. It will characterize the hormones, metabolism, food preferences, fitness
and physical activity levels, sleep patterns and thought processes in people with and
without weight problems. Genetic mat1 expand
This study will describe the phenotype (physical and behavioral traits) of overweight and
obese people. It will characterize the hormones, metabolism, food preferences, fitness
and physical activity levels, sleep patterns and thought processes in people with and
without weight problems. Genetic material will be collected for studies of the internal
codes that influence body weight.
People over 18 years of age from all weight categories (lean, overweight, obese) who are
reasonably healthy may be eligible for this study. Participants undergo the following
tests and procedures:
- Physical exam, electrocardiogram, blood and urine tests, instructions for recording
food intake for 7 days
- Metabolic studies for menstruating women.
- Resting metabolic rate to study how many calories the body burns at rest.
- Mixed meal test to measure hormones such as insulin that regulate blood sugar.
- Glucose tolerance test to determine how sensitive the body is to insulin.
- 24-hour energy expenditure to measure the amount of oxygen breathed in and the
amount of carbon dioxide breathed out.
- Repeat 24-hour energy expenditure.
- Diurnal blood sampling and temperature assessment to study the body s internal
clock.
- Air-displacement plethysmography (Bod Pod) to measure body composition.
- Dual energy x-ray absortiometry (DEXA) to measure body fat and bone density.
- Repeat Bod Pod and DEXA.
- Anthropometric measurements and bioelectrical impedance to measure height, weight,
and circumferences, skinfold thickness, fluid status and percentage body fat.
- Bromide dilution to measure the amount of water not in cells in the body.
- Doubly labeled water to measure the amount of calories burned in a 7-day period.
- 24-hour diet reports.
- Endothelial reactivity to measure how the blood vessels stretch or dilate for
assessing cardiovascular health.
- Treadmill or bicycle exercise capacity test.
- Physical activity monitor.
- Unicorder to detect any breathing difficulties that may interfere with sleep.
- Fat and muscle biopsy to look for variations in gene expression in fat tissue and
muscle.
- Neurocognitive testing to check memory, decision-making, hand-eye coordination, and
reasoning.
- Evaluation of mood problems and assess personality type.
- Evaluation to assess the quantity and quality of pain experienced.
- Taste testing to determine the response to bitter, salty, sweet and sour substances.
- Occupational therapy evaluation to explore the subject's adaptations, if any, for
performing personal, social or professional activities; the subject's views on his
or her weight, body size and shape, and strategies to control weight.
Type: Observational
Start Date: Mar 2007
open study
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Study of Lung Proteins in Patients With Pneumonia
National Institutes of Health Clinical Center (CC)
Pneumonia
Pulmonary Disease
Lung Disease
This study will examine the different types of proteins present in the lungs of patients
with pneumonia to explore the causes of different types of the disease. Pneumonia is a
condition that causes lung inflammation AND is often caused by an infection. It is
usually diagnosed by lung x-rays and lis1 expand
This study will examine the different types of proteins present in the lungs of patients
with pneumonia to explore the causes of different types of the disease. Pneumonia is a
condition that causes lung inflammation AND is often caused by an infection. It is
usually diagnosed by lung x-rays and listening to the chest with a stethoscope. This
method can diagnose pneumonia, but it does not provide information on the cause of the
inflammation - information that might be helpful in guiding treatment. This study will
measure proteins in the lungs of patients to see if certain proteins are associated with
specific forms of pneumonia, and can thus serve as biomarkers for disease.
Patients undergoing diagnostic bronchoscopy at the NIH Clinical Center may participate in
this study. Patients will undergo bronchoscopy and bronchoalveolar lavage as scheduled
for their medical care. For this procedure, the patient's mouth and throat are numbed
with lidocaine; a sedative may be given for comfort. A thin flexible tube called a
bronchoscope is advanced through the nose or mouth into the lung airways to examine the
airways carefully. Saline (salt water) is then injected through the bronchoscope into the
air passage, acting as a rinse. A sample of fluid is then withdrawn for microscopic
examination. Researchers in the current study will use some of the fluid obtained from
the lavage to examine for protein content.
In addition to the bronchoscopy and bronchoalveolar lavage, participants will have about
2 tablespoons of blood drawn to compare blood test results with the results of the lung
washings. Patients' medical records will be reviewed to obtain information on past
medical history, current medical treatment, vital signs, and results of x-ray tests.
Type: Observational
Start Date: Feb 2004
open study
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Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)
National Institute of Allergy and Infectious Diseases (NIAID)
Human Papillomavirus
Background:
Most symptoms of human papillomaviruses (HPV) infection, do not cause serious health
problems, but some do. As HPV can cause uncontrolled growth of infected cells, some
people can develop benign skin lesions, larger warts, genital lesions, tumors or cysts
that do not respond to treatme1 expand
Background:
Most symptoms of human papillomaviruses (HPV) infection, do not cause serious health
problems, but some do. As HPV can cause uncontrolled growth of infected cells, some
people can develop benign skin lesions, larger warts, genital lesions, tumors or cysts
that do not respond to treatment. Researchers want to learn why.
Objective:
To better understand why some people are more likely than others to get sick from HPV
infection, and why medicine or surgery is not always effective.
Eligibility:
People aged 3 years and older who have had multiple outbreaks of HPV-related warts and/or
lesions that do not respond to treatment. Healthy relatives are also needed.
Design:
Participants will be screened with a medical history, physical exam, and blood tests.
Participants may have study visits as an outpatient or an inpatient (admitted overnight
to the NIH hospital) and be followed over several years by our doctors and researchers at
the NIH.
Participants may have a cervical and/or anal Pap test. They may give samples of semen,
cervicovaginal secretions, urine, saliva, or stool. Small pieces of skin, the inside of
the cheek, and/or the gums may be collected with a punch or scrape biopsy to understand
how HPV affect the growth of cells.
Mucus and skin may be collected by rubbing the area with a cotton swab. Collection areas
may include the inside the mouth, nostrils, skin, genitals, and/or in or around the anus.
Biopsies may be collected. If participants need to have a biopsy as part of medical care,
then we may ask if extra samples can be collected for research. Biopsies we may collect
are bone marrow, lymph node, genitals, or in or around the anus.
Participants may have leukapheresis. Blood is taken from a needle placed in one arm. A
machine separates out the white blood cells. The rest of the blood is returned through a
needle in their other arm.
Samples may be used for genetic tests and/or to make special cells called induced
pluripotent stem cells.
Participants may have follow-up visits once a year for 10 years.
Benefits:
We are not testing new HPV treatments in this study and you might not benefit from
participating. However, we may learn new information about your condition that we will
share with you and your doctor. We may make recommendations for your medical care based
on current accepted treatment.
What we learn from you and other participants in this study might help other people. We
hope we can use this information to develop new treatments and therapies in the
future....
Type: Observational
Start Date: Nov 2021
open study
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Natural History Study of Biomarkers in Pulmonary Arterial Hypertension
National Institutes of Health Clinical Center (CC)
Pulmonary Disease
Pulmonary Hypertension
Background:
- High blood pressure in the lungs, known as pulmonary arterial hypertension (PAH), is a
rare disorder. Some people have disease-associated PAH and some have PAH from an unknown
cause. Researchers want to follow the natural history of all PAH patients to understand
how PAH progresses i1 expand
Background:
- High blood pressure in the lungs, known as pulmonary arterial hypertension (PAH), is a
rare disorder. Some people have disease-associated PAH and some have PAH from an unknown
cause. Researchers want to follow the natural history of all PAH patients to understand
how PAH progresses in order to discover targets for future research into new treatments.
To further identify treatment targets, they will compare healthy volunteers to patients
with PAH.
Objectives:
- To study the natural history of PAH.
Eligibility:
- Individuals at least 18 years of age who have PAH.
- Healthy volunteers at least 18 years of age.
Design:
- Participants with PAH will have periodic visits to the National Institutes of Health
Clinical Center. After the first visit, they will return in 6 months and then yearly
or every other year for as long as the study continues.
- The first visit will take up to 3 days. It will involve the following tests:
- Physical exam and medical history
- Blood and urine samples
- Heart and lung function tests and imaging studies
- Six-minute walk test
- Questions about exercise and physical activity
- Healthy volunteers will have only one visit to the Clinical Center, during which
they will undergo screening tests, and complete many of the same tests as patients
with PAH
Type: Observational
Start Date: Jul 2013
open study
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A Study to Evaluate the Feasibility of a Physiologic Biomarker to Assess Pain and Other Sensory Pro1
National Cancer Institute (NCI)
Neurofibromatosis Type 1
Background:
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumors to grow along
the nerves in the skin, brain, and other parts of the body. People with NF1 often have
pain and may experience other abnormal sensations like itching, numbness, or tingling.
These symptoms can affect1 expand
Background:
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumors to grow along
the nerves in the skin, brain, and other parts of the body. People with NF1 often have
pain and may experience other abnormal sensations like itching, numbness, or tingling.
These symptoms can affect their daily life. Researchers want to learn more about these
symptoms and find better ways to measure pain in people with NF1.
Objective:
To learn if a device called the AlgometRx Nociometer(Registered trademark) is effective
in measuring pain or other abnormal sensations in people with NF1.
Eligibility:
People aged 1 year and older with NF1.
Design:
Individuals can have up to 3 assessments completed in person. Each assessment may last up
to 1.0 to 1.5 hours.
Individuals will be screened. They will complete questionnaires about their health and
how bad their pain is. If participants are having blood drawn for other reasons, some
additional samples may be used in this study.
The AlgometRx Nociometer includes an electrode that will be placed onto a finger or a
toe. The electrode will send non-painful electrical signals to activate nerves in the
finger or toe. At the same time, a camera will be used to record changes in the pupil of
the eye. The test will be done on all 4 of the participant s limbs; however, researchers
may skip 1 or more limbs for various reasons. This test takes about 10 seconds to
complete with at least a one-minute rest between testing different limbs.
Individuals will be asked to do a 2nd assessment with the AlgometRx Nociometer that may
be done 1 hour later but no more than 72 hours after the first assessment. Participants
who will be returning for another visit can opt to do a 3rd assessment that will be done
at least 4 weeks but not more than 18 months after the 1st....
Type: Interventional
Start Date: Feb 2026
open study
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Studies of Blood Flow to the Brain During Thought
National Institute of Mental Health (NIMH)
Healthy Volunteer
The purpose of this study is to use brain imaging technology to measure changes in blood
flow to areas in the brain as individuals perform intellectual tasks.
This study will use functional magnetic resonance imaging (fMRI) to examine blood flow to
areas of the brain as participants engage in task1 expand
The purpose of this study is to use brain imaging technology to measure changes in blood
flow to areas in the brain as individuals perform intellectual tasks.
This study will use functional magnetic resonance imaging (fMRI) to examine blood flow to
areas of the brain as participants engage in tasks associated with visual perception,
visual recognition, and memory....
Type: Observational
Start Date: Sep 1993
open study
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Early Detection of Infectious and Noninfectious Lung Diseases Following Allogeneic Hematopoietic St1
National Heart, Lung, and Blood Institute (NHLBI)
Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)
Background:
Stem cell transplants (called hematopoietic stem cell transplantation, or HSCT) are used
to treat various diseases. But when the cells for this procedure are donated by someone
other than the person who receives the HSCT ( allogeneic HSCT ), the recipient has an
increased risk of lung1 expand
Background:
Stem cell transplants (called hematopoietic stem cell transplantation, or HSCT) are used
to treat various diseases. But when the cells for this procedure are donated by someone
other than the person who receives the HSCT ( allogeneic HSCT ), the recipient has an
increased risk of lung inflammation and scarring. This happens when their immune cells
attack healthy lung cells. In this natural history study, researchers will look for the
best ways to detect developing lung inflammations earlier after an HSCT.
Objective:
To see if certain tests can detect early signs of lung inflammation in people after HSCT.
Eligibility:
People aged 5 to 70 years who will have HSCT as part of another NIH study.
Design:
Participants will undergo these tests prior to their HSCT. These tests will then be
repeated regularly for 2 years:
Ultra-low dose computed tomography (CT) scans. Participants will lie on a table that
slides through a machine; the machine uses X-rays to get pictures of the inside of the
body. This type of scan uses less radiation than normal CT scans.
Bronchoscopy with lavage: Participants will be sedated. A flexible tube will be inserted
through the mouth and into the airways. Salt water will be squirted into the lung, then
sucked out to collect cells and fluids from the lung. Another tube with a camera may be
inserted into the airways to take pictures.
Blood tests. Blood will be drawn every 2 to 4 weeks.
Pulmonary function tests. Participants will breathe into a machine to test their lung
function. They will see how far they can walk in 6 minutes.
Type: Observational
Start Date: Apr 2024
open study
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Palbociclib and Sasanlimab for the Treatment of Advanced Clear Cell Renal Cell Carcinoma (ccRCC) or1
National Cancer Institute (NCI)
Advanced Clear Cell Renal Carcinoma (Ccrcc)
Papillary Renal Cell Carcinoma (Prcc)
Background:
Kidney cancer is the 12th leading cause of cancer-related death in the United States.
Some kidney tumors do not respond well to current treatments. Better treatments are
needed.
Objective:
To test a pair of drugs (sasanlimab and palbociclib) in people with kidney cancers.
Eligibilit1 expand
Background:
Kidney cancer is the 12th leading cause of cancer-related death in the United States.
Some kidney tumors do not respond well to current treatments. Better treatments are
needed.
Objective:
To test a pair of drugs (sasanlimab and palbociclib) in people with kidney cancers.
Eligibility:
People aged 18 years and older with kidney cancer; specifically, clear cell renal cell
carcinoma (ccRCC) or papillary renal cell carcinoma (pRCC).
Design:
Participants will be screened. They will have a physical exam with blood tests. They will
have an imaging scan and a test of their heart function. They may have a biopsy; that is,
a sample of tissue will be cut from the tumor.
Participants will be treated in 28-day cycles for up to 2 years.
Palbociclib is a pill taken by mouth. Participants will take this drug once a day for 21
days during each 28-day treatment cycle. They will write down the dates and times they
take these pills in a diary.
Sasanlimab is an injection under the skin. Participants will receive this injection on
the first day of each treatment cycle.
Imaging scans and blood tests will be repeated throughout the treatment. Tumor biopsies
may be repeated up to 3 times; these biopsies are optional.
Participants will have follow-up visits every month for 3 months after treatment ends.
They will continue to have imaging scans every 3 months; these scans may be done close to
home. The results can be sent to researchers.
Participants will remain in the study up to 6 years.
Type: Interventional
Start Date: Apr 2024
open study
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Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
National Cancer Institute (NCI)
GATA2
Immunodeficiency
MDS
Background:
- GATA2 deficiency is a disease caused by mutations in the GATA2 gene. It can cause
different types of leukemia and other diseases. Researchers want to see if a stem cell
transplant can be used to treat this condition. A stem cell transplant will give stem
cells from a matching donor (1 expand
Background:
- GATA2 deficiency is a disease caused by mutations in the GATA2 gene. It can cause
different types of leukemia and other diseases. Researchers want to see if a stem cell
transplant can be used to treat this condition. A stem cell transplant will give stem
cells from a matching donor (related or unrelated) to a recipient. It will allow the
donor stem cells to produce healthy bone marrow and blood cells that will attack the
recipient s cancer cells.
Objectives:
- To see if stem cell transplants are successful at treating GATA2 mutations and related
conditions.
Eligibility:
- Recipients who are between 6 and 70 years of age and have GATA2 deficiency.
Design:
- All participants will be screened with a physical exam and medical history. Blood
samples will be collected. Recipients will have imaging studies and other tests.
- Recipients will have chemotherapy or radiation to prepare for the transplant. On the
day of the transplant, they will receive the donated stem cells.
- Recipients will stay in the hospital until their condition is stable after
transplant.
- Frequent blood tests and scans will be required for the first 6 months after the
transplant, followed by less frequent visits over time....
Type: Interventional
Start Date: Jul 2013
open study
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The Role of Anifrolumab in Improving Markers of Vascular Risk in Patients With Systemic Lupus Eryth1
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Systemic Lupus Erythematosus
Cardiovascular Disease
Premature Atherosclerosis
Background:
People with systemic lupus erythematosus (SLE) are at risk of developing complications in
their blood vessels. This can increase the risk of heart attacks or stroke. No
medications have been effective at reducing this risk in people with lupus.
Objective:
To test whether a drug (anif1 expand
Background:
People with systemic lupus erythematosus (SLE) are at risk of developing complications in
their blood vessels. This can increase the risk of heart attacks or stroke. No
medications have been effective at reducing this risk in people with lupus.
Objective:
To test whether a drug (anifrolumab) can improve blood vessel function and reduce blood
vessel inflammation in people with SLE.
Eligibility:
People aged 18 to 80 years with SLE.
Design:
Participants will undergo screening. They will have a physical exam. They will have blood
and urine tests. They will have a test of their heart function and a chest X-ray. They
will answer questions about their SLE symptoms.
Participants will visit the clinic 9 times in 8 months. After screening, visits will be 4
weeks apart. Each visit may take up to 4 hours.
Participants will receive infusions from a tube attached to a needle inserted into a vein
in the arm (IV). Some will receive anifrolumab. Others will receive a placebo treatment.
They will not know which one they are getting.
At some visits they will have additional tests:
CAVI (cardio-ankle vascular index) tests blood vessel function. Participants will lie
still for 20 minutes. Small electrodes will be placed on both wrists with stickers. A
microphone will be placed on their chest. Blood pressure cuffs will be wrapped around
their ankles and arms.
FDG-PET/CT is an imaging procedure. Participants will receive a substance through an IV
line. They will lie on a table for 110 minutes while a machine captures images of their
body.
Type: Interventional
Start Date: Dec 2023
open study
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Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
National Heart, Lung, and Blood Institute (NHLBI)
Severe Aplastic Anemia
Telomere Biology Disorders
Inherited Bone Marrow Failure Syndromes
Background:
Bone marrow failure diseases are rare. Much is known about the diseases at the time of
diagnosis, but long-term data about the effects of the diseases and treatments are
lacking. Researchers want to better understand long-term outcomes in people with these
diseases.
Objective:
To fol1 expand
Background:
Bone marrow failure diseases are rare. Much is known about the diseases at the time of
diagnosis, but long-term data about the effects of the diseases and treatments are
lacking. Researchers want to better understand long-term outcomes in people with these
diseases.
Objective:
To follow people diagnosed with acquired or inherited bone marrow failure disease and
study the long-term effects of the disease and its treatments on organ function.
Eligibility:
People aged 2 years and older who have been diagnosed with acquired or inherited bone
marrow failure or Telomere Biology Disorder. First degree family members may also be able
to take part in the study.
Design:
Participants will be screened with a medical history, physical exam, and blood tests.
They may have a bone marrow biopsy and aspiration. For this, a large needle will be
inserted in the hip through a small cut. Marrow will be drawn from the bone. A small
piece of bone may be removed.
Participants may also be screened with some of the following:
Cheek swab or hair follicle sample
Skin biopsy
Urine or saliva sample
Evaluation by disease specialists (e.g., lung, liver, heart)
Imaging scan of the chest
Liver ultrasounds
Six-Minute Walk Test
Lung function test
Participants will be put into groups based on their disease. They will have visits every
1 to 3 years. At visits, they may repeat some screening tests. They may fill out yearly
surveys about their medicines, transfusions, pregnancy, bleeding, and so on. They may
have other specialized procedures, such as imaging scans and ultrasounds.
Participation will last for up to 20 years.
...
Type: Observational
Start Date: Oct 2021
open study
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Immune Regulation in Ulcerative Colitis or Crohn s Disease
National Institute of Allergy and Infectious Diseases (NIAID)
Inflammatory Bowel Disease
Ulcerative Colitis
Chrohn's Disease
This study will investigate in patients with Crohn s disease and ulcerative colitis how
the body s immune system controls inflammation in the gastrointestinal tract (stomach and
intestines)-specifically, how lymphocytes (a type of white blood cell) function in
inflammatory responses. This protocol1 expand
This study will investigate in patients with Crohn s disease and ulcerative colitis how
the body s immune system controls inflammation in the gastrointestinal tract (stomach and
intestines)-specifically, how lymphocytes (a type of white blood cell) function in
inflammatory responses. This protocol does not involve any experimental treatments.
Patients between the ages of 0 and 75 years of age with Crohn s disease or ulcerative
colitis or symptoms of inflammatory bowel disease may be eligible for this study.
Screening tests may include the following: medical history and physical examination,
routine blood tests, examination of stool specimens, X-rays such as barium enema or upper
GI series, proctosigmoidoscopy, colonoscopy, gastroduodenoscopy, and small bowel biopsy.
Participants will receive medical treatment according to the best generally accepted
measures for treating Crohn s disease or ulcerative colitis. This may include
anti-inflammatory drugs, immunosuppressive drugs, and antibiotics to treat infections. A
surgical consultation may be recommended for patients whose disease does not respond to
medical treatment. If surgery to remove intestinal tissue is recommended, a qualified
gastrointestinal surgeon will perform the procedure.
In addition, participants may undergo the following procedures:
- Blood drawing - No more than 450 milliliters (30 tablespoons, or 15 ounces) of blood
will be taken from adults over a 6-week period. A maximum of 7 ml (1/2 tablespoon)
of blood per kilogram (2.2. pounds) of body weight will be obtained from children
within the same time period, with no more than 3 ml/kg taken at any one time.
- Leukapheresis - This procedure is done to collect large quantities of white blood
cells. Whole blood is collected through a needle in an arm vein, similar to donating
blood. The blood is circulated through a machine that separates it into its
components, and the white cells are removed. The rest of the blood is returned to
the body, either through the same needle or through another needle in the other arm.
- Intestinal biopsies - Intestinal tissue will be obtained during colonoscopy with
intestinal biopsy in patients who require this procedure as part of their standard
medical care. Patients are given a sedative to reduce anxiety, but are conscious
during the procedure. A flexible tube is inserted into the rectum and large
intestine, allowing the physician to see the intestinal mucosa. At various places,
small pieces of tissue are plucked out.
Type: Observational
Start Date: Aug 1998
open study
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Dose Finding Study to Evaluate the Safety of BSB-2002 in Relapsed or Refractory Acute Myeloid Leuke1
BlueSphere Bio, Inc
AML - Acute Myeloid Leukemia
AML With Mutated NPM1
AML, Adult Recurrent
The goal of this clinical trial is to test BSB-2002 which is a new type of cellular
therapy to treat blood cancer (AML). It will evaluate the safety of BSB-2002 and also
determine whether it works to prevent relapse of your cancer. expand
The goal of this clinical trial is to test BSB-2002 which is a new type of cellular
therapy to treat blood cancer (AML). It will evaluate the safety of BSB-2002 and also
determine whether it works to prevent relapse of your cancer.
Type: Interventional
Start Date: Apr 2026
open study
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Study to Evaluate Efficacy and Safety of Roluperidone in Adult Subjects With Negative Symptoms and1
Minerva Neurosciences
Negative Symptoms of Schizophrenia
Evaluate the efficacy, as well as safety and pharmacokinetics, of Roluperidone in
improving the negative symptoms of schizophrenia in adult subjects in Phase A of study,
followed by Phase B of study to evaluate the relapse rate of Roluperidone and
antipsychotic medications. expand
Evaluate the efficacy, as well as safety and pharmacokinetics, of Roluperidone in
improving the negative symptoms of schizophrenia in adult subjects in Phase A of study,
followed by Phase B of study to evaluate the relapse rate of Roluperidone and
antipsychotic medications.
Type: Interventional
Start Date: Apr 2026
open study
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[64Cu]FBP8 PET for Early Detection of Intracardiac Thrombus in Amyloid Cardiomyopathy
Brigham and Women's Hospital
Cardiac Amyloidosis
The primary goal of this pilot study is to determine whether [64Cu]FBP8, a novel
fibrin-binding positron emission tomography (PET) probe, can identify intracardiac
thrombi when paired with simultaneous hybrid cardiac PET/MRI in twenty (20) individuals
with transthyretin or light chain cardiac amylo1 expand
The primary goal of this pilot study is to determine whether [64Cu]FBP8, a novel
fibrin-binding positron emission tomography (PET) probe, can identify intracardiac
thrombi when paired with simultaneous hybrid cardiac PET/MRI in twenty (20) individuals
with transthyretin or light chain cardiac amyloidosis and atrial fibrillation (AF) or
atrial flutter (AF).
The primary hypothesis of this study is that [64Cu]FBP8 PET/MRI can identify intracardiac
thrombi in >90% of subjects with confirmed intracardiac thrombi based on transesophageal
echocardiogram (TEE). In secondary analyses, the investigators will seek to determine
associations between intracardiac thrombi and left atrial function and left ventricular
amyloid burden.
Type: Interventional
Start Date: May 2026
open study
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Gut, Immune, and Vascular Health in Metabolically Healthy Obesity
Ball State University
Metabolically Healthy Obesity
The investigators seek to better understand how a single high-fat meal impacts gut,
immune, and vascular outcomes in individuals with "metabolically healthy obesity"
(obesity and largely normal cardiometabolic profile) and "metabolically healthy
normal-weight individuals." Second, the investigators1 expand
The investigators seek to better understand how a single high-fat meal impacts gut,
immune, and vascular outcomes in individuals with "metabolically healthy obesity"
(obesity and largely normal cardiometabolic profile) and "metabolically healthy
normal-weight individuals." Second, the investigators seek to understand how a prebiotic
fiber (inulin) impacts gut, immune, and vascular outcomes in individuals with
"metabolically healthy obesity."
Type: Interventional
Start Date: Mar 2026
open study
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Central micrOperimetry and Radial OCT Evaluation in Geographic Atrophy (CORE-GA): a Prospective Pil1
University of California, San Francisco
Age-Related Macular Degeneration
Geographic Atrophy
This study is being conducted to assess two imaging methods-central microperimetry and
radial OCT (Optical Coherence Tomography)-in patients with Geographic Atrophy (GA) or
those who are at risk of developing this condition. The study team is trying to determine
whether these methods can provide mo1 expand
This study is being conducted to assess two imaging methods-central microperimetry and
radial OCT (Optical Coherence Tomography)-in patients with Geographic Atrophy (GA) or
those who are at risk of developing this condition. The study team is trying to determine
whether these methods can provide more accurate measurements of GA progression toward the
foveal center, the central part of the retina responsible for your sharpest, most
detailed vision.
Type: Observational
Start Date: Jun 2025
open study
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Nutrition Intervention for Pancreatic Cancer
Children's Hospital of Philadelphia
Pancreatic Ductal Adenocarcinoma (PDAC)
Pancreatic Neuroendocrine Tumors (pNET)
Patients with pancreatic cancer (pancreatic ductal adenocarcinoma (PDAC) and pancreatic
neuroendocrine tumor (NET)) commonly experience fat malabsorption due to exocrine
pancreatic insufficiency (EPI) and leads to gastrointestinal (GI) symptoms, malnutrition,
weight loss, and reduced quality of lif1 expand
Patients with pancreatic cancer (pancreatic ductal adenocarcinoma (PDAC) and pancreatic
neuroendocrine tumor (NET)) commonly experience fat malabsorption due to exocrine
pancreatic insufficiency (EPI) and leads to gastrointestinal (GI) symptoms, malnutrition,
weight loss, and reduced quality of life (QoL). Current standard treatment, pancreatic
enzyme replacement therapy (PERT), is limited by suboptimal adherence, high cost, and
partial effectiveness to prevent fat malabsorption. The objective of the study is to
assess the feasibility and maintenance of lipid absorption function of a structured lipid
medical food (SLMF; Encala®) powder in subjects with PDAC and NET with EPI.
Type: Interventional
Start Date: Apr 2026
open study
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Postural Control in Adults
University of Oklahoma
Older
Adults
Older Adults, Balance
The investigators propose a 2-week intervention involving adults over 65 years old.
Participants will undergo dynamic balance training on an movable platform (stabilometer)
with either restricted or full vision. The primary objective is to facilitate sensory
re-weighting, hypothesizing that restric1 expand
The investigators propose a 2-week intervention involving adults over 65 years old.
Participants will undergo dynamic balance training on an movable platform (stabilometer)
with either restricted or full vision. The primary objective is to facilitate sensory
re-weighting, hypothesizing that restricted vision training will increase somatosensory
input utilization for postural control. Pre- and post-training assessments will measure
postural control during gait initiation under a dual-task condition. The investigators
hypothesize that the restricted vision group will demonstrate:
1. Improved postural control, indicated by increased center of pressure displacement
during gait initiation.
2. Improved ability to utilize somatosensory input during a balance task.
Type: Interventional
Start Date: Jan 2026
open study
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Remote Monitoring and Symptom Management Digital Application
Patrick C. Johnson, MD
Breast Cancer (Locally Advanced or Metastatic)
Lymphoma
Colorectal Cancer
The goal of this clinical trial is to learn if an artificial intelligence phone
application called ASSIST can help patients receiving cancer treatment.
The main question[s] it aims to answer are:
Is ASSIST feasible for patients (meaning can it be used by patients)? Is ASSIST
acceptable to patient1 expand
The goal of this clinical trial is to learn if an artificial intelligence phone
application called ASSIST can help patients receiving cancer treatment.
The main question[s] it aims to answer are:
Is ASSIST feasible for patients (meaning can it be used by patients)? Is ASSIST
acceptable to patients (meaning do patients like it)?
Researchers will compare the ASSIST phone application to see how it compares to usual
clinical care.
Participants on the ASSIST arm will use the ASSIST phone application for 12 weeks, and
participants in both groups will complete surveys.
Type: Interventional
Start Date: Apr 2026
open study
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