10 Clinical Trials for Various Conditions
Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the United States. Currently, there is no safe way to obtain cells from the eye to study. But researchers now can turn other types of cells, like skin or blood, into induced pluripotent stem (iPS) cells. These can be grown in a lab and turned into other types of cells, like cells from the eye. This will allow researchers to understand and treat diseases of the eye such as AMD. Objectives: To establish a bank of samples that can be changed into other cell types, such as eye cells, to better understand diseases such as AMD. Also to test drugs in order to treat various eye diseases. Eligibility: People who provided DNA samples in another protocol (07-EI-0025) Design: Participants will be screened with their data from the previous protocol. Participants with select genetic variants will be chosen and contacted via phone. Participants will have a punch skin biopsy. The skin will be washed. A numbing medication will be injected. A small piece of skin will be removed with a biopsy tool. The site will be covered with a dressing. They will receive instructions on how to care for the area. They will have follow-up visits if needed for clinical care for the area. Participants may be asked to return if their first sample did not provide enough cells for the lab. Participants sample will be developed into eye cells. The cells will be used to understand diseases and test new drugs.
Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity. Researchers want to study how skeletal muscle responds to NR in an individual who has Li-Fraumeni Syndrome and slow muscle energy recovery after exercise. Objective: To study how nicotinamide riboside affects skeletal muscle after exercise. Eligibility: One person at least 18 years old with Li-Fraumeni syndrome and a certain gene mutation Design: The participant will be screened with a medical history, physical exam, and blood and urine tests. The participant may also have a heart test. The participant will maintain their regular diet and supplements during the study. The participant will take the study drug as 1-4 tablets twice a day for 12 weeks. The participant may be contacted with reminders and questions about side effects. The participant will have 4-5 visits over 18-30 weeks. At visits, the participant will repeat screening tests. At some visits they will also have: * Ultrasound of the heart with a wand placed on the chest. * Test of oxygen used at rest and exercise, while wearing a face mask. * Exercise test on a treadmill or bicycle with electrodes on the skin. * Magnetic resonance spectroscopy. The participant will have no caffeine for 12 hours. Then they will lie in a machine for about 2 hours. Sometimes they will lie still. Sometimes they will be asked to move. Health questionnaire The participant may have a skin sample taken by needle. The participant will be withdrawn from the study if they become pregnant.
Alzheimer's disease is a condition marked by the deterioration of mental function. The disease usually begins in late middle life and results in death in 5 to 10 years. Patients with Alzheimer's disease typically suffer from memory loss, confusion, and disorientation. The condition has become a major medical and social problem in the United States because of the increasing number of people living beyond the age of 65. The actual cause of Alzheimer's disease is unknown. Researchers believe that Alzheimer's disease, or at least a portion of cases, may be an inherited condition. As a result, many new techniques have been developed to study the genetic causes of Alzheimer's disease and other neurological disorders. Many of these genetic techniques require blood samples and a family pedigree. A pedigree is a chart, similar to a family tree, that shows a patient's family history. The purpose of this study is to collect family and psychosocial information, blood, and biopsy samples from patients with neurological diseases, their families, and normal volunteers. This information gathered will be used to learn more about diseases that affect the brain.
Gyrate atrophy is a rare hereditary disease of the eye's retina (the layer of light-sensitive tissue that lines the inside of the eyeball) and choroid (a vascular layer of tissue behind the retina). Degeneration of these structures causes near-sightedness, cataracts and progressive loss of vision. This study will examine eye function and chemical and molecular abnormalities in patients with gyrate atrophy to try to better understand, diagnose, and treat the condition. Patients with other degenerative diseases of the choroid and retina, such as retinitis pigmentosa, choroideremia, and others, will also be studied for comparison. Family members of patients will be studied, when possible, to try to identify the genetic basis of the disease and gain information that will aid in genetic counseling. Study participants will undergo a physical examination and eye examination, including tests of color vision, field of vision, and ability to see in the dark. An electroretinogram and electrooculogram will measure visual cell function. Photographs of the retina will be taken. Blood will be drawn for biochemical study and gene research. Family members who agree to participate in the study will undergo the same eye tests and will also have blood drawn for genetic studies. Patients with gyrate atrophy will also be asked to undergo a small skin biopsy for biochemical and genetic study. They will provide a family history in order to draw a family tree showing how the disease is distributed among family members. Patients with gyrate atrophy may also participate in studies of the effect of vitamin B6 and diet on blood levels of the amino acid ornithine, which is elevated in patients with gyrate atrophy. Participants will take 500 mg of vitamin B6 by mouth every day for 3 to 6 months. If this study confirms a reduction of ornithine levels, then long-term studies of the vitamin as a possible treatment for the disease may be started. After the vitamin B6 study, patients will start a nearly protein-free diet to lower ornithine blood levels. More than 2,000 calories are carbohydrate and fat. Some special low-protein foods and limited fruit is included, plus amino acid supplements. Patients who have carefully adhered to this diet have lowered their ornithine levels and slowed disease progression. Patients will be hospitalized for the first 1 to 3 weeks for close monitoring with frequent urine and blood tests. When the blood ornithine level is normalized, a less restricted low protein diet will be prescribed. Participants will have monthly blood tests and a complete eye examination every 6 months to 1 year to evaluate disease progression.
This research is being done to determine if investigators can change skin from one type to another. Specifically, investigators are interested in making normal skin into the thicker skin found on our palms and soles.
Fibroblasts can be cultured from human skin biopsies using fetal bovine serum and artificial growth medium. Fibroblasts cultured in this way retain the genetic characteristics of their donor but can be used for experiments where study conditions are much more precisely controlled than they can be in in vivo studies. We plan to culture fibroblasts from Pima Indians for two purposes. Firstly, to look for an in vitro system to measure insulin resistance, the underlying abnormality in Pima diabetics. Secondly, to look for biochemical markers of diabetes or obesity in Pimas employing two dimensional electrophoresis techniques.
Background: * National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick. * To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future. Objectives: * To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes. Eligibility: * Patients between the ages of 2 and 85 who have immune system disorders. * Healthy volunteers between the ages of 18 and 85. * Both groups will be selected from the eligible participants of existing NIH studies into immune system disorders. Design: * Researchers may take up to two biopsies from participants arms, legs, abdomen, or back. * The biopsy site will be numbed with local anesthetic and cleaned before the sample is taken. * The punch skin biopsy needle will be inserted into the skin and rotated to remove a small circle of skin (approximately 1/4 to 3/8 of an inch across). The area will be closed with bandages or stitches, and then covered with a dressing. Any stitches will be removed in 7 to 10 days. * Tissue samples collected in the study will be stored for future research.
The purpose of the study is to investigate the impact of the injection of dermal filler on the quality of the skin dermal extracellular matrix in persons between the ages of 30-50 years. The quality of the dermal extracellular matrix will be assessed following injection of dermal filler compared to injection of saline vehicle.
This study is a clinical trial testing the safety and efficacy of volar fibroblast (skin cells from the palm or sole) injections for thickening the epidermal (skin) layer at the stump site in people with below the knee amputations. The study will enroll adults seen at Johns Hopkins.
This Phase 1 study will evaluate the safety and tolerability of \[Ga-68\]-PNT6555 and \[Lu-177\]-PNT6555 in subjects with select solid tumors that have FAP over-expression, in order to determine a recommended Phase 2 dose.