52 Clinical Trials for Various Conditions
Cardiac telerehabilitation is a much-needed pediatric therapy; however, a lack of randomized controlled trials has limited the development of and reimbursement for this valuable service. Through this prospective, randomized controlled trial, the investigators aim to demonstrate the safety and efficacy of PCTR in a clinically diverse population of children and adolescents with heart disease.
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling. Patients with VACTERL association and their parents and siblings may be eligible for this study. Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures: * Physical examination, medical history, electrocardiogram (EKG), blood and urine tests * Eye examination * Imaging studies (echocardiogram, x-rays and ultrasound tests) * Other specialized tests or consultations as indicated * Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes * Optional return visit after 2 years for repeat testing and to look for changes over time Parents of patients have the following procedures: * Physical examination, medical history, blood tests and x-rays, if needed * Specialty consultations as indicated * Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes * Questionnaires about their child s medical history, growth, behavior and development, therapy and medication Siblings of patients have the following procedures: * Physical examination, medical history and blood tests
This study will evaluate the safety and performance of the Medtronic Hugo™ RAS System when used for urologic RAS procedures.
This is a placebo-controlled clinical trial to assess whether Guanfacine Extended Release (GXR) reduces aggression and self injurious behavior in individuals with Prader Willi Syndrome (PWS). In addition, the study will establish the safety of GXR with a specific focus on metabolic effects.
This will be a prospective study over a 14-month duration with clinical evaluations throughout. Limitless Solutions will provide prosthetics and training system for study subjects that qualify for enrollment.
Evaluation of the safety and efficacy of the reSept ASD Occluder to treat patients with clinically significant secundum atrial septal defect
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
The purpose of this investigation is to evaluate maternal and fetal outcomes following fetoscopic repair of fetal spina bifida at the Johns Hopkins Hospital. The hypothesis of this study is that fetoscopic spina bifida repair is feasible and has the same effectiveness as open repair of fetal spina bifida, but with the benefit of significantly lower maternal and fetal complication rates. The fetal benefit of the procedure will be the prenatal repair of spina bifida. The maternal benefit of fetoscopic spina bifida repair will be the avoidance of a large uterine incision. This type of incision increases the risk of uterine rupture and requires that all future deliveries are by cesarean section. The use of the minimally invasive fetoscopic surgical technique may also lower the risk of preterm premature rupture of membranes and preterm birth compared to open fetal surgery. Finally, successful fetoscopic spina bifida repair also makes vaginal delivery possible.
This study will confirm the safety and effectiveness of the Edwards Lifesciences SAPIEN XT Transcatheter Heart Valve (THV) System in patients with a dysfunctional right ventricular outflow tract (RVOT) conduit with a clinical indication for intervention in a post-market setting.
This trial will test whether temporary fetoscopic endoluminal tracheal occlusion (FETO) rather than expectant management during pregnancy, followed by standardized postnatal management, increases survival at discharge and decreases oxygen need at 6 months in case of survival till discharge.
The focus of this research is to create a repository of ultrasonographic images and their corresponding medical data from pregnant women (the mothers of the fetuses that are imaged), focusing on fetal anomalies. These women will visit the obstetrical clinics at Regional One Health and the Le Bonheur Fetal Center.
The purpose of this study is to identify the issues that have greatest impact on QOL for patients with Charcot Marie Tooth (CMT) Disease. Patients who have -registered in the Inherited Neuropathies Consortium Contact Registry will be invited to participate.
Prospective, non-randomized, multicenter post-approval study to collect long term clinical and echographic data on Mitroflow DL patients.
This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. This sub-project is investigating benefits and harms of providing WES diagnostic and different types of incidental findings to adult patients and parents of pediatric patients who undergo WES because they have symptoms suggesting genetic disease.
The purpose of this study is to determine if inadvertent receipt of the BioThrax vaccine during pregnancy is independently associated with adverse maternal, pregnancy, or infant health outcomes.
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.
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.
The purpose of this study is to evaluate the safety and efficacy of extended dosing of mipomersen in patients with familial hypercholesterolemia on lipid-lowering therapy who have completed either the 301012-CS8 (NCT00280995) or 301012-CS9 (NCT00281008) clinical drug trials.
Feeding difficulties and airway related consequences contribute significantly to the infant mortality and morbidity. Some of these problems may be dependent on neural control and muscular function. Prematurity, congenital anomalies and perinatal depression represent three important conditions in infants, that may have feeding and airway difficulties.Development of motility of the foregut and the adaptation during normal and disease in developing infants is unclear.
The goal of this clinical trial is to learn whether a journaling intervention can reduce stress and anxiety in parents of children with urogenital conditions (such as differences of sex development and hypospadias). The main questions it aims to answer are: * Does guided journaling help to reduce anxiety levels in parents of children with urogenital conditions? * What are parents' perspectives on group-based writing interventions for future support programs? Participants will: * Complete a short anxiety questionnaire (the General Anxiety Disorder-7 scale) at the beginning of the study * Receive a physical journal with 5 writing prompts designed to help process emotions related to their child's condition * Complete 5 journal entries over several weeks, writing about their experiences and feelings * Complete the same anxiety questionnaire again after finishing the journal entries * Participate in a 45-minute interview to discuss how the journaling affected their stress levels and gather feedback on potential group-based writing programs
The goal of this clinical trial is to test an animated video delivered by text message in patients whose pregnancies are complicated with fetal anomalies. The main question it aims to answer is: Does the video intervention prepare parents to talk to the doctors during prenatal appointments? Participants will be randomized to receive either the video intervention or links to the clinic's webpages. They will complete an enrollment survey before their appointment and a follow up survey after their appointment. The researchers will compare the video and webpage groups to see which group reports engaging in more of the identified best-practices of communication.
In this study, an artificial intelligence model to detect squamous cell carcinomas (SCC) on photos of recessive dystrophic epidermolysis bullosa (RDEB) skin is developed. The ultimate goal is to integrate this model into an app for patients and physicians, to help detect SCCs in RDEB early. SCCs which rapidly metastasize are the main cause of death in adults with RDEB. The earlier an SCC is recognized, the easier it can be removed and the better the outcome. AI leverages computer science to perform tasks that typically require human intelligence and has recently been used to identify skin cancers based on images. We are currently developing an AI approach for early detection of SCC and distinction of malignancy from chronic wounds and other RDEB skin findings. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SCC present/ no SCC. This will be especially valuable for patients with difficult access to medical expertise and those who are hesitant to allow full skin examination at each visit, often because of fear of biopsies. Thus, this project will directly benefit patients by allowing early recognition of SCCs and will empower patients and their families by providing a home use tool. So far, the study team has mainly used professional images (photographs taken in hospital settings by physicians, nurses, and clinical photographers) of both SCCs in RDEB and images of RDEB skin without SCC to develop and train the AI model. The images that are expected in a real-life setting will mostly be pictures taken by patients or family members with their phones or digital cameras. These images have different properties regarding resolution, focus, lighting, and backgrounds. Incorporating such images will be crucial in the upcoming phases of model development-testing and validation-for the web application be a success for patients.
A study to evaluate the efficacy and safety of maralixibat in infants with Biliary Atresia (BA) after Hepatoportoenterostomy (HPE, also known as the Kasai procedure).
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A\>G in intron 26 of the CEP290 gene ("LCA10-IVS26").
The aim of this clinical trial is to investigate the efficacy (by monitoring overall improvement of EB symptoms) and safety (by monitoring adverse events) of three doses of allo-APZ2-EB administered intravenously to patients with recessive dystrophic epidermolysis bullosa (RDEB).
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three visits to the study site in a 4-month period for a series of tests. The primary objectives are to assess safety, tolerability, and efficacy of metformin in the treatment of language deficits, behavior problems, and obesity/excessive appetite in individuals with fragile X syndrome.
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
The purpose of this study is to learn about pregnancy outcomes in osteogenesis imperfecta (OI). Patients enrolled in the Brittle Bone Disorders (BBD) Contact Registry (CR) will be invited via email to participate in this study.
The purpose of this study is to explore the patient perspective of disease burden in Osteogenesis Imperfecta (OI). Participants will complete a web-based survey of questions which are usually administered within the Patient-Reported Outcome Measurement Information System (PROMIS) and provide feedback regarding the appropriateness of the questions for someone with OI.
The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.