View clinical trials related to Congenital Abnormalities.
Filter by:This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies. Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient: - Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG) - X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat - Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males) - Meal tests, food diaries and food preference tests - Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury - Neuropsychological tests - Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance - Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test - Eye and hearing tests - Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain - Computer photography - Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results
Develop and evaluate a peer navigator intervention to assist Korean women with a potential breast abnormality, who have missed their first follow-up appointment, to complete all diagnostic follow-up tests.
The study evaluates two materials used for duraplasty of the posterior cranial fossa in treatment of Chiari malformation. One material (DuraGen) is a non-suturable collagen matrix that is applied over the defect if brain coverings (dura); the other (DuraGuard) is made out of bovine pericardium and has to be sutured during application. The study compares these two materials used for duraplasty of patients undergoing Chiari surgery in a prospective randomized fashion to check the rate of surgical complications associated with each material, patient's outcomes, length of surgery and the hospital stay, etc.
The primary purpose of this study is to collect data on the incidence of congenital malformations in infants of women with an ongoing pregnancy after controlled ovarian stimulation with recombinant follicle stimulating hormone /ganirelix followed by in vitro fertilization (IVF) or intra cytoplasmatic sperm injection (ICSI), and to compare this incidence with that of a group of women who used a long protocol with a gonadotropin releasing hormone agonist as historical controls.
The purpose of this study is to compare 3D mammography with digital mammography in women with dense breasts for the detection and evaluation of masses and/or breast cancer.
To evaluate the safety and efficacy of extended dosing with mipomersen (ISIS 301012) in participants with familial hypercholesterolemia or severe hypercholesterolemia on lipid-lowering therapy who had completed either the 301012-CS5 (NCT00607373), 301012-CS7 (NCT00706849), 301012-CS17 (NCT00477594) or MIPO3500108 (NCT00794664) clinical drug trials.
This is a study looking at advanced imaging such as PET/CT and MRI to see if they can provide a more accurate assessment of the patient with dense breasts or difficult to interpret mammograms. In addition, the ability to determine whether one or the other is more accurate or whether both together would be appropriate in this clinical situation, may be able to be measured. The MRI studies are very sensitive for detection of breast histopathology but less specific in differentiating between small low grade malignancies are more benign pathologies. Multifocal pathology can be challenging in determining site(s) for biopsy. PET scanning is specific in the measurement of metabolic glucose activity of various histopathologies and is accurate in differentiating aggressive from benign pathology in multifocal breast disease. A further drawback of PET is the lack of ability to observe lesions less than 3-4mm in diameter. In select cases the combination of MR and PET/CT is able to come to a more conclusive diagnosis - specifically with bilateral or multifocal breast disease.
The study looks at a new treatment for wrist and finger contractures -- a condition where the affected hand is in a "closed" position, with the wrist and fingers stiff and difficult to move from that position. We want to study if stimulation of wrist and finger muscles using an implanted neuromuscular stimulator (BION) will be more or less effective than doing passive exercises of the affected hand to improve the range of movement at wrist and finger joints. Subjects of this study will be randomized into one of three groups: one doing passive movement therapy; one receiving surface stimulation (electrical stimulation with electrodes on the skin of the arm) and one doing BION® therapy. The passive movement group will do therapy for 12 weeks. Subjects in either stimulation group will receive stimulation for 6 weeks and then only passive therapy for 6 weeks.
A post-marketing study evaluating the transplantation of autologous fat augmented with Adipose Derived Regenerative Cells (ADRCs), in patients with functional and cosmetic breast deformities post segmental mastectomy or quadrantectomy (lumpectomy).
The purpose of this study is to evaluate the safety and efficacy of mipomersen (ISIS 301012) in subjects with homozygous familial hypercholesterolemia on lipid-lowering therapy. This study consisted of a 26-week treatment period and a 24-week post-treatment follow-up period. Following treatment and Week 28 evaluations, participants could elect to enroll in an open-label extension study (301012-CS6; NCT00694109). Participants who were not eligible or elected not to enroll in the open-label extension study or who discontinued during the 28-week treatment period were followed in this study for 24 weeks from administration of the last dose of study drug.