13 Clinical Trials for Various Conditions
This is a prospective study that will examine psychosocial improvements among CF adolescents and caregivers going through the Stress Management and Resiliency Training - Relaxation Response Resiliency Program (SMART-3RP).
The purpose of this study is to find out if there are any genetic differences between people with and without disorders of the head, face, and eye. We will create a biorepository of samples from people with and without these types of birth defects. A biorepository is a collection or "bank" of human tissue materials (such as blood or saliva) for research purposes. These samples will then be available to investigators studying these disorders.
This study will use stereo photogrammetry to: 1) characterize facial features of genetic and congenital malformations; 2) define facial features associated with normal growth and development; and 3) determine if stereo photogrammetry soft tissue imaging can be used to help diagnose head and facial malformations. These abnormalities currently are diagnosed using 2- or 3-dimensional skeletal images obtained with x-rays. Stereo photogrammetry uses a camera and computer to generate 3-dimensional images of the soft tissues of the face. Because the method does not use any radiation, images can be taken repeatedly to evaluate patients over a long term. Using stereo photogrammetry, images of people who belong to a defined group, for example, 17-year-old Caucasian males, can be combined (or morphed) into one image, allowing measurement of the facial features of the group. Comparing the morphed images of a normal control group with those of people with specific genetic conditions may reveal distinctions that could be used in diagnosing conditions that are currently diagnosed using x-rays. Healthy normal volunteers and patients with craniofacial dysmorphologies may be eligible for this study. Patients are recruited from current NIH studies of various genetic diseases. People who have previously had head and neck surgeries, including cosmetic surgery, may not participate. Participants give a medical and dental history, including any orthodontic work or facial surgeries. They are then positioned in front of a photogrammetry camera, a headband is placed on their head, and their picture is taken. A coded patient number is entered into the computer, where the image is stored until further analysis. Most participants are evaluated one time, but some patients and control subjects may be asked to return yearly for repeat images.
The purpose of this study is to confirm the safety, performance and effectiveness of Stryker's PEEK Customized Implants when used for the augmentation and/or restoration of bony and/or soft tissue deformities in the cranial and craniofacial skeleton. The study is designed as a prospective, multi-center trial with a long-term follow-up (24 months) of study participants.
This study will use a 3D scanner to print a 3D model or mold for each patient's prosthesis. The goal of this study to provide patients with a new, faster method of imaging and creating prostheses that preserves the quality of the current method while reducing time spent by both the patient and providers. Patients that are eligible will have a non-invasive 3D scanner (Artec Space Spider) to image the indicated areas of their head and face to help create their new prosthesis. Patients will come in for visits as needed to fit and adjust their prosthetic. Additionally, patients will be asked to complete questionnaires and have follow-up visits at certain time -points pre and post prosthetic completion.
The purpose of this study is to determine whether patient-specific computer-aided design (CAD) and three-dimensional (3D) printing can be utilized to produce personalized, effective continuous positive airway pressure (CPAP) masks for children with severe obstructive sleep apnea (OSA) and craniofacial anomalies who encounter significant difficulty using CPAP because of poorly fitting masks despite exhausting available commercial mask options.
Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities. The hypotheses in the present study of FSS and related conditions are: (1) FSS and related conditions are associated with higher rates of posttraumatic stress symptoms (PTSS), depression, and reduced quality of life than is observed in the general population; (2) persons close to an individual with FSS or related condition suffer similarly; and (3) current measures, which are single-disease specific (i.e., PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual. There have been no studies looking at quality of life associated with FSS. Some authors have looked at quality of life in persons with facial differences; other authors have looked at bone and joint problems. Many other authors have looked at PTSS and depression caused by health problems and bad medical experiences. No authors have looked at these problems when they happen together, as they do in FSS. Because of the above, there may be differences in patients that have FSS versus patients in previous quality of life studies. The study will also develop and validate an outcomes-based quality of life survey for FSS and related conditions.
The hypotheses of the present study of Freeman-Sheldon syndrome (FSS) and related conditions are: (1) that exercise capacity is lower in FSS patients versus normal controls, and the lower exercise capacity is due to changes in the muscles' normal structure and an inability of sufficient quantity of the energy molecule to bind to muscle; (2) this muscle problem reduces amount of air that can get in the lung and amount of oxygen carried in the blood, which then has the effect of increasing heart and respiration rates, blood pressure, and deep body temperature, and produces muscle rigidity; (3) the events noted above, when they occur during cardiac stress testing, are related to a problem similar to malignant hyperthermia (MH) reported in some muscle disorders without use of drugs known to cause MH. MH (a life-threatening metabolic reaction that classically is triggered when susceptible persons receive certain drugs used in anaesthesia.
Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet. This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy. This study will cover all types of treatment \[medical (non-surgical), including psychiatric, and surgical treatments\], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.
Deficient or inappropriate healing of bone impacts clinical decision-making and treatment options in orthopedics, oral and maxillofacial surgery, plastic surgery and periodontics. While a number of auto- and allografting techniques have been used to regenerate craniofacial defects caused by infective, neoplastic or trauma-induced bone loss, each method has significant limitations. Our research group in the Craniofacial and Skeletal Diseases Branch of NIDCR has developed methods to culture and expand cell populations derived from mouse bone marrow stroma. We believe that an important next step is to apply the information gained in animal studies to treat osseous defects in humans. We propose to examine the potential of cultured human bone marrow stromal cells to serve as an abundant source of osteoblastic progenitor cells. These cells will ultimately be used to graft craniofacial osseous defects. In the course of this study we will: (1) develop methods for the propagation and enrichment of osteoblastic progenitor cells from bone marrow stroma; (2) test various vehicles for the transfer of bone marrow stromal cells to osseous defects in recipient animals; (3) determine optimal culturing and transplantation conditions for the eventual transplantation of bone marrow stromal cells into human recipients. These studies will define the parameters of bone marrow stromal cell transplantation and will generate models for future therapeutic strategies.
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1. The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview. The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.
This study will screen patients for eligibility in studies sponsored by the Craniofacial Genetics Section (HCGS), the Clinical Research Core (CRC), and other branches located within the National Institute of Dental and Craniofacial Research (NIDCR). It will also evaluate patients with diseases or abnormalities of the oral cavity or craniofacial complex, or both, for future protocol development. HCGS and CRC study the natural history of oral diseases and systemic diseases that are manifested in the maxillofacial region-the upper jaw and face. Among the diseases are lichen planus, systemic lupus erythematosus, and premalignant oral leukoplakia. Researchers also study certain acquired diseases and genetic diseases. Because many of the diseases of the maxillofacial region are poorly defined, the evaluation and characterization of patients with such diseases are goals of investigation. Patients of any age, gender, and racial and ethnic group who have oral diseases or systemic diseases of the upper jaw and face may be eligible for the study. Women of childbearing potential, or who are pregnant or lactating, may be eligible; they would undergo procedures and tests or receive medications posing a minimal risk to the fetus or child. Participants will undergo the following procedures: * Complete medical history and physical examination, including a thorough examination of the head and neck; detailed examination of the teeth and gums may or may not be necessary. * Tests of blood, urine, stool; tests for pregnancy and HIV when needed; and tests for cultures, fungi, bacteria, and parasites. * Sampling of blood and oral tissues for diagnosis, treatment response, and disease progression. * Electrocardiogram, x-ray, and imaging procedures, including imaging of the face. Biopsies may be performed as needed for diagnosis and to guide therapy. The type, number, location, and frequency of biopsies depend on several factors, including the nature of the disease being evaluated. Local anesthesia is typically used unless there are contraindications. Some biopsies are done with disposable, 2 to 3 mm, round, sharp metal punches. Larger excisions with the use of an appropriate blade may be necessary for proper evaluation of a patient's condition or complete removal of something that is abnormal. The risks and discomfort associated with any of the interventions include mild pain, bleeding, and infection; there may be temporary facial paralysis, bruising, and allergic reactions. Supportive care will be given as needed, according to the patient's diagnosis, treatment, and clinical information. Disease-related or drug-related complications, or both, will be managed through collaboration with the patient's referring physician.
Craniofacial reconstruction surgery involves a surgical approach to the craniofacial region to repair cranial vault and facial deformities. The surgery is extensive, often requiring wide scalp dissections and multiple osteotomies and has been associated with significant morbidity. Some of the most severe and commonly seen problems are associated with the rate and extent of blood loss. Efforts to minimize surgical bleeding may translate to reduced transfusion requirements and a lessening of associated risks Epsilon-aminocaproic acid (EACA), an inhibitor of fibrinolysis, reduces transfusion requirements in children undergoing procedures on cardiopulmonary bypass (CPB), as well as in older children undergoing spinal surgery for scoliosis (1-6). Before controlled studies to assess efficacy of EACA in a craniofacial surgical population can be done, appropriate pharmacokinetic (PK) data are needed to determine the optimal dosing strategy. PK data exist for EACA in children undergoing operations on CPB and hypothermia. The aim of this study is to determine the pharmacokinetics of EACA in infants and children undergoing craniofacial reconstruction procedures.