View clinical trials related to Connective Tissue 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.
Diffuse systemic sclerosis (SSc), or scleroderma, is a connective tissue disease causing damage to skin and other organs. The purpose of this study is to determine if taking oral bovine type I collagen (CI) will improve the condition of SSc patients.
Juvenile dermatomyositis (JDM) is a connective tissue disease that causes skin rash and weak muscles in children. The purpose of this study is to measure the absorption of oral prednisolone and intravenous (IV) methylprednisolone and to determine levels of disease activity indicators in the blood. These levels will be compared to see if there are patterns specific to active and less active JDM.
Much more about kidney disorders can be learned by determining kidney function. This research proposes to study the kidneys function by several parameters known as glomerular filtration rate (GFR), Renal Plasma Flow (RPF), and Glomerular Capillary Wall Permselectivity. The study will select patients suffering from different types of kidney diseases. These patients will be selected based on the presence of significant amounts of protein in their urine (proteinuria). Standard blood and urine tests are often unable to provide completely accurate information about the kidney. In order for researchers to have a more accurate idea of kidney function, they will use alternative tests. Test materials (para aminohippurate and inulin) will be injected into patients veins that provides information based on their filtration through the kidneys....
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include: - Echocardiogram (ultrasound of the heart) - X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans - Lung function studies - Urine tests - Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination) - Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed - Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.
This study will examine the possible relationship between silicone implants or injections and the connective tissue diseases scleroderma and myositis. It will explore whether certain factors in the blood or the immune system or other factors are involved in the development of these diseases following silicone implantation or injection. Men and women 18 years of age and older who meet the following criteria may be eligible for this study: Group 1-Patients who have had silicone implants or injections and who later developed scleroderma or myositis Group 2-Patients with scleroderma or myositis who have not had silicone implants or injections Group 3-Healthy volunteers who have had silicone implants or injections and did not develop symptoms or other medical features of connective tissue disorders. Participants will have a thorough history and physical examination, blood and urine tests, chest X-ray and lung function tests. In addition, patients will complete a questionnaire about their procedure (including information such as the types of implanted devices and injections, reason for the procedure, post-operative complications, other illnesses or medical conditions present before and after the procedure, etc.).