View clinical trials related to Metabolic Diseases.
Filter by:This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.) Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study. Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include: - Blood test for DNA genetic analysis - Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument. - Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields. - Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material. - Referral to appropriate sub-specialists when potential complications are found.
This study will determine the usefulness of pulsing electromagnetic field (PEMF) technology to reverse or reduce the bone loss (osteopenia) that occurs in the forearm after fracture or surgery.
This study will provide medical evaluations for patients with known or suspected metabolic and genetic disorders. It will allow NICHD investigators and trainees experience in diagnosing, managing, and treating patients with metabolic and genetic disorders who may not be eligible for an active NIH research trial. Participants in this protocol will only have tests and procedures used in the standard practice of medicine; there will be no experimental tests or treatments. Patients who are found eligible for an active research protocol will be offered participation in that study. The medical evaluations in this trial may uncover new disease processes that prompt new research initiatives. People of all ages with a suspected or diagnosed genetic or metabolic condition may be eligible for this study. In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of unknown cause may qualify. Participants will have a medical history, including a family history, with possible review of previous medical records, and a physical examination. Other procedures may include: - Consultation with medical specialists. - Hearing and/or vision tests. - Imaging studies, such as X-rays, ultrasound and magnetic resonance imaging (MRI). - Blood drawing Blood samples (2 to 4 tablespoons from adults and 1 to 2 tablespoons from children) may be used for routine lab tests, genetic study, and other research purposes. - Cheek swab DNA may be obtained by a cheek swab. A small brush is rubbed against the inside of the cheek to collect some cells. - Skin biopsy Under local anesthetic, a small circle of skin (about 1/8-inch) is removed with a sharp cutting instrument similar to a cookie cutter. - Muscle biopsy Under local anesthetic, a small piece of muscle tissue is removed to aid in diagnosis. Participants will undergo only diagnostic procedures that are clinically indicated; that is, only tests needed to confirm or rule out a diagnosis will be done. Tissue samples collected for diagnostic purposes may also be used to obtain DNA for genetic studies and to establish cell lines (cells grown in the laboratory to be maintained indefinitely) for future research. The results of the medical evaluation may indicate whether or not the participant has the disease that runs in the family (if a genetic disorder is indeed confirmed). Unless he or she requests otherwise, the subject (and parent in the case of a minor) will receive counseling regarding the test results. The implications of a positive test result will be explained, specifically, the participant s risk of having the disease, and the risk of passing the condition on to offspring.
In this study researchers would like to learn more about the low levels of bone mineral density seen in approximately half of women in their forties diagnosed as currently having or previously had depression. Bones are always undergoing a process of building (formation) and breakdown (resorption). This process is referred to as bone remodeling. When more bone is formed than resorbed, the density (level of calcium) in bone increases and the bones become stronger. However, if more bone is resorbed than formed the density of bone decreases and the bones become weak. This condition is called osteoporosis. It is unknown if women with depression have decreased bone mineral density as a result of too much breakdown of bone or not enough building. It is important to know the cause of low bone mineral density because it will influence the way a patient is treated. Medications like bisphosphonates are used when there is too much bone breakdown. Growth hormone replacement can be given in cases where there is not enough bone production. Presently, bone biopsy and a procedure known as histomorphometry can determine what processes are going on in bones. Researchers have decided to use a sample of bone (biopsy) from part of the hip bone (iliac crest). In addition, researchers will collect a sample of bone marrow (the soft tissue found in the center of bones) to tell them more about the biochemical, cellular, and molecular processes that may be contributing to the problem of decreased bone density in depressed premenopausal women.
Obesity is a condition affecting one-third off the U.S. population and is a major risk actor for the development of Type 2 diabetes, hyperlipidemia (increased levels of fat in the blood), hypertension (high blood pressure), and other disorders of the heart and lungs. Individuals with the onset of obesity during childhood or adolescence are at an increased risk of obesity-related, diseases, both during adolescence and later in adult life. African American girls and women are at an increased risk for obesity, and have substantial rates of obesity-related diseases and causes of death. Further, many African American adult women fail to respond to many of the therapeutic approaches used to treat obesity. At present there are no medical therapies proven effective for the correction of severe obesity in children or adolescents. One medication that may have a favorable risk-benefit ratio in pediatric populations is Orlistat (Xenical, Hoffmann LaRoche). Orlistat works by preventing the action of enzymes in the digestive process, interfering with the absorption of approximately 1/3 of the fat eaten in the diet. Xenical appears to be effective for reducing weight and obesity-associated diseases in obese adults. Researchers propose to determine the safety, tolerability, and efficacy of Xenical in 12-17 year old severely obese African American and Caucasian children and adolescents who have one or more obesity-related disease (hypertension, hyperlipidemia, sleep apnea, hepatic steatosis, insulin resistance, impaired glucose tolerance, or Type 2 diabetes).
This study is designed to use positron emission tomography to measure brain energy use. Positron Emission Tomography (PET) is a technique used to investigate the functional activity of the brain. The PET technique allows doctors to study the normal processes of the brain (central nervous system) of normal individuals and patients with neurologic illnesses without physical / structural damage to the brain. When a region of the brain is active, it uses more fuel in the form of oxygen and sugar (glucose). As the brain uses more fuel it produces more waste products, carbon dioxide and water. Blood carries fuel to the brain and waste products away from the brain. As brain activity increases blood flow to and from the area of activity increases also. Researchers can label a sugar with a small radioactive molecule called FDG (fluorodeoxyglucose). As areas of the brain use more sugar the PET scan will detect the FDG and show the areas of the brain that are active. By using this technique researchers hope to answer the following questions; 4. Are changes in brain energy use (metabolism) present early in the course of epilepsy 5. Do changes in brain metabolism match the severity of patient's seizures 6. Do changes in metabolism occur over time or in response to drug therapy