1,018 Clinical Trials for Various Conditions
There is a robust body of research suggesting that the use of pre-surgical orthopedic devices prior to definitive cleft lip/nose repair results in significant improvement of facial aesthetics with long term follow up. However, in recent surveys of the cleft centers in the US, only 30% of cleft centers offer PSIOs, and only 13% routinely report its use. Accordingly, thirty percent of centers utilize a two-stage cleft lip/nose repair in the centers' algorithm (1st: lip adhesion; 2nd: final lip repair). The major drawback to a two-stage cleft procedure is the administration of two general anesthetics to an infant before the age of one year. There is a growing amount of evidence that multiple anesthetic experiences before a certain age could affect brain development. It is difficult to make inferences as to why clinicians are not utilizing surgical aids to decrease the size of the cleft width, but even when PSIO is offered, caregivers experience additional, potentially prohibitive challenges. In one study, caregivers traveled an average of 70 miles to visit the nearest cleft center offering pre-surgical orthopedic devices. As these devices are created by hand every 1-2 weeks after seeing the child in clinic, parents are required to travel to clinic multiple times per month. Not surprisingly, infants who were first-born and those who did not have other siblings were more likely to receive pre-surgical orthopedic treatment than infants who were residing with other siblings. Given the benefits of PSIOs and the barriers both to healthcare systems and patients' families associated with PSIOs in its current form, a new form of pre-surgical clinical management is needed. Objectives: 1. Evaluate JHH's current clinical performance in addressing unilateral cleft lip and nasal deformity. 2. Elucidate the difference in preoperative cleft size and in surgical management/outcomes for patients who received PSIOs through 3D-printed devices. 3. Using the above maxillofacial growth data with and without PSIOs, the investigators aim to create an algorithm to predict maxillofacial growth for each individual patient to design pre-sequenced custom PSIO devices.
The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.
1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum. 2. A research study is currently being conducted at the Medical College of Wisconsin (MCW) to investigate if there is an inherited cause of PHACE syndrome. 3. We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.
Chiari Malformation (CM) is a chronic health condition characterized by brain and spinal malformations and displacements that cause obstruction of cerebrospinal fluid (CSF; Hadley, 2002) circulation. The most common type of CM, CM1, is characterized by the displacement of the cerebellar tonsils more than five millimeters into the foramen magnum (Hadley, 2002). Approximately 215,000 Americans may have CM1, over six times the prevalence of multiple sclerosis (Dilokthornsakul et al., 2016; Speer et al., 2003). Chronic pain is a major problem for patients with CM; (Curone et al., 2017; Garcia et al., 2019). Craniovertebral decompression is the most common surgical intervention for CM1, but it may not be effective in relieving long-term pain and is not recommended for all CM1 patients (Arnautovic et al., 2015; Imperato et al., 2011). In addition to chronic pain, patients with CM also have high levels of depression, anxiety, and sleep dysfunction (Garcia et al., 2019; Lázaro et al., 2018; Watson et al., 2010). Psychological interventions, specifically Acceptance and Commitment Therapy (ACT), have been effective at treating chronic pain when administered online (van de Graaf et al., 2021). We previously found an online self-administered version of ACT to be effective at improving psychological flexibility and chronic pain acceptance in participants with CM (Garcia et al., 2021). In our pilot study (Garcia et al., 2021), participants in the intervention group received phone coaching to improve intervention adherence and use of skills; however, we found that duration of phone coaching did not impact treatment outcomes. We also had excellent retention in the control group. It is unclear whether phone coaching is necessary for treatment engagement or efficacy in groups particularly motivated to seek treatment. If it is not necessary, online ACT can be offered more efficiently and cost-effectively. The proposed study will randomize participants to either ACT+ phone coaching, ACT without coaching, or wait-list control conditions to determine if coaching impacts treatment adherence and outcomes in this population. Based on power analyses, the sample size will be 111. The sample will be recruited online and randomized to one of the three treatment groups. The intervention will consist of eight modules that are administered weekly over 8 weeks. Follow up assessments will be administered after completion of the intervention, and at one and three months after completion.
This is a two-part, multi-center, randomized, double-blind, placebo-controlled study to investigate the safety, efficacy and pharmacokinetics of REC-994 (200 mg and 400 mg) compared to placebo in subjects with symptomatic cerebral cavernous malformation (CCM).
One of the strongest risk factors for cancer in children and adolescents is being born with a congenital anomaly. In fact, data from registry linkage studies imply that 10-15% of childhood cancer risk could be attributable to having a congenital anomaly. As an estimated 10 million children worldwide are born with a congenital anomaly per year, the public health implications of identifying why some of these children develop cancer are thus substantial. While these studies have been informative, registry data alone offers no possibility of molecular or sequencing studies to identify the specific genetic basis underlying the co-occurrence of anomalies and cancer susceptibility. Therefore, the investigators developed the first phase of the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study to address these limitations. Using data from birth defects and cancer registries from four states, the investigators identified numerous novel specific anomaly-cancer associations. In the GOBACK Study the investigators identified an increase in cancer risk among children with any chromosomal abnormality and any non-chromosomal birth defect. Additionally, children with congenital anomalies developed a variety of cancers, therefore the investigators propose to evaluate a range of cancers among children with congenital anomalies. By pooling registry data across four states in the GOBACK Study, the investigators found that children with non-chromosomal birth defects have a significantly elevated risk of several childhood cancers. Notably several of these congenital anomalies are not characteristic of known cancer predisposition syndromes. Therefore, our preliminary studies lay the framework for this application. The objectives of the current study are to (1) interrogate the genomes of children with co-occurring non-chromosomal congenital anomalies and cancer enrolled in Project:EveryChild to identify genetic features associated with these combined phenotypes, and (2) verify congenital anomalies and determine the phenotypic spectrum among children with cancer enrolled in Project:EveryChild with self-reported congenital anomalies ("deep phenotyping"). For this study the investigators will utilize Project:EveryChild to identify, contact, and enroll case-parent trios for children with co-occurring non-chromosomal congenital anomalies and cancers. From each enrolled family the investigators e will collect DNA from the affected case and one or both biological parents to comprise each case-parent trio. The investigators will include siblings if available. The investigators will also characterize case-parent trios based on demographic and clinical characteristics utilizing information collected via self-administered questionnaires and medical records. Ultimately the findings from this study could lead to 1) determining the potential genetic mechanisms that underlie these co-occurring conditions; 2) improving cancer risk-management strategies among children with birth defects; and 3) identifying the role congenital anomalies play in outcomes and survivorship among children diagnosed with cancer.
The purpose of this research is to gather information on the safety and effectiveness of core biopsy of vascular anomalies for clinical pathology and clinical genomics studies.
Beyond EV-B, there are clinical observations to implicate other viruses in birth defects, including CHD. Since the Rubella epidemic of 1960s', however, viruses have received little attention and certainly no comprehensive study, especially using next generation sequencing (NGS), has been undertaken in this context. The current pandemic as well as those caused by Zika, influenza, Ebola and Lassa Fever (among many) have shown pregnant women and their baby are at high risk. Therefore, an open-minded approach is warranted when considering the role of maternal viral infections in CHD. Even less is known about maternal immune response, such as antibody production, to these viruses. The investigator's goal is to answer the above gaps in knowledge. The investigators propose to do that using two different approaches; one retrospective (analysis of samples in two existing, large biorepositories) and the other prospective. The investigator's have created a multi-disciplinary team to bring together the needed expertise from individuals who have overlapping and vested interest in this project. The investigator's specific aim is to examine the diversity of the gut virome in non-pregnant and pregnant women with and without diabetes, with special emphasis on known cardiotropic viruses (those with tropism for cardiac tissues). This study is seen by the investigator's as the first step prior to a larger prospective multi-institutional study to specifically assess the linkage between the maternal virome and CHD pathogenesis.
The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females with CUAs. The investigator will also investigate any environmental and genetic factors that may be responsible for causing CUAs.
Infants with congenital gastrointestinal anomalies (CGIA) experience multiple physiologic stressors, including neonatal surgery, early in life during an essential time of growth and development. Early physiologic stressors such as inadequate nutrition have been linked to altered growth patterns and neurodevelopmental delays later in life. In other groups of at-risk infants, early body composition measurements can be used as predictors of long-term health outcomes more so than weight and length alone. The primary objective of this study is to determine if body composition changes in early life are predictive of neurodevelopmental outcomes among infants with CGIA. The secondary objective is to determine if infants with CGIA have altered body composition over time when compared with healthy infants. The investigators propose a prospective, observational study of infants with CGIA, including detailed chart review, body composition measurements, and neurodevelopmental testing at follow-up. If a correlation between body composition measurements and neurodevelopmental outcomes is established in this population, the addition of body composition measurement to standard of care in the neonatal intensive care unit and in follow-up care could allow for further optimization of overall health and development of this vulnerable pediatric population through earlier detection of growth alterations and informed interventions.
Arteriovenous malformation (AVM) is a congenital vascular anomaly that progresses throughout life and causes complications including tissue destruction due to rapid overgrowth, bleeding, functional deficits, severe deformity and cardiac failure. Unfortunately, traditional managements have transient benefits with more than 90 recurrence rate within a year. Therefore, there is a significant unmet medical need. The purpose of this study is to assess the safety and efficacy of Trametinib in children and adults with Extracranial Arteriovenous Malformation (AVM).
A phase 1, open-label safety, tolerability and early efficacy study of a Renal Autologous Cell Therapy (REACT) in patients with Chronic Kidney Disease from Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) (REGEN-004)
Twenty percent of US adults report chronic pain symptoms. Both psychological symptoms and sleep issues commonly co-occur with chronic pain. Chronic pain is a frequently reported symptoms of Chiari Malformation (CM); however, the cause of pain symptoms is not fully understood, and pain is not associated with the extent of neural abnormality in CM. ACT is not a set of techniques, but rather a way of thinking. ACT encourages acceptance, as opposed to avoidance of unwanted feelings, all in the context of mindfulness (i.e., being aware of one's present environment and in tune with internal thoughts and emotions). ACT has been found to be successful at reducing pain perceptions and targeting multiple symptoms at one time. However, ACT has not been examined in CM and it is unknown whether ACT will improve sleep as well as pain-related symptoms. The purpose of the current study is to assess the efficacy of an online ACT intervention at reducing pain interference and sleep dysfunction symptoms in a sample with CM. It is hypothesized that CM patients may benefit from Acceptance and Commitment Therapy (ACT). More specifically it is hypothesized that the treatment group will report significantly less pain interference and psychological flexibility compared to the control group. It is also hypothesize that ACT will mediate the relationship between sleep dysfunction and pain interference. Based on power analyses the sample size will be 56. The sample will be recruited online and randomized to the treatment or control group. The intervention will consist of eight modules that are administered weekly over eight weeks. Additionally, a 7-day sleep diary will be administered the week prior to the intervention and the week after the intervention. Follow up assessments will be administered upon completion of the 8-week intervention (at the beginning of week 9), 1-month after, and 3 months after the completion of the intervention.
Each year world-wide, 2.5 million fetuses die unexpectedly in the last half of pregnancy, 25,000 in the United States, making fetal demise ten-times more common than Sudden Infant Death Syndrome. This study will apply a novel type of non-invasive monitoring, called fetal magnetocardiography (fMCG) used thus far to successfully evaluate fetal arrhythmias, in order to discover potential hidden electrophysiologic abnormalities that could lead to fetal demise in five high-risk pregnancy conditions associated with fetal demise.
Evaluate whether a treatment plan based on CT angiography can accurately and precisely identify the target nidus as compared to standard cerebral arteriography fused to MRI.
This is a single center, randomized, trial that will enroll twenty (n=20) patients with a diagnosis of symptomatic cavernous malformations who are planned candidates for surgical resection by one of the investigators, and who meet all of the inclusion and exclusion criteria. Patients will be randomized into two groups: A Treatment group of ten (n=10) patients that will receive oral propranolol at a dose of 60mg per day (one 60mg ER capsule per day) for 7- to 10-days prior to surgery plus their usual medications, and a Control group of 10 (n=10) patients will receive only their routine medications. Currently, the only active treatment alternative for symptomatic cerebral cavernous malformations is surgery. A control group is required to allow for a semi-quantitative comparison with mRNA and miRNA levels in the treatment group.
The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.
The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.
The purpose of this study is to determine whether a posterior fossa decompression or a posterior fossa decompression with duraplasty results in better patient outcomes with fewer complications and improved quality of life in those who have Chiari malformation type I and syringomyelia.
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.
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.
Bevacizumab Therapy for brain arteriovenous malformation that is not amenable to surgical intervention.
The purpose of this study is to examine the treatment, both surgical and non-surgical, of patients with any form of early onset scoliosis. Such treatment may include the use of growth friendly devices that are surgically or magnetically lengthened; or the use of serial body casting or bracing, or observation. Outcomes examined will be what can be seen physically on the patient and on x-ray, as well as parent perception of how the treatment effects their child with the use of a health-related quality of life (HRQOL) questionnaire.
To take part in this study you/your child have a vascular malformation, a type of blood vessel disorder whose cause is unknown. The investigators will do this by looking at changes in the genes and proteins in the cells of the malformation as well as normal cells. The investigators are doing this research because currently there is no known cause of vascular malformations and no way to know whether or not other health problems will occur in addition to the malformation. Through this research we hope to create standard methods for doctors to examine and treat people with vascular anomalies.
Duke University Medical Center is investigating the hereditary basis of Chiari type I malformations with or without syringomyelia (CM1/S). Our research is aimed at learning if CM1/S is indeed caused by factors inherited through the family and, if so, which genes are involved.
The purpose of this study is to determine if the use of sirolimus in the treatment of children and young adults with complicated vascular anomalies will prove to be safe and provide objective response resulting in improved clinical status and quality of life. Funding Source - FDA OOPD (Food and Drug Administration - Office of Orphan Products Development)
Primary Objective: To evaluate the use of unilateral or bilateral VEPTR devices, with or without expansion thoracoplasty, for preventing further progression of the Cobb angle, allowing for spinal growth and improving pulmonary function in the treatment of children with progressive scoliosis without rib abnormalities.
PURPOSE The purpose of this study is to learn more about multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT). MLT is a rare vascular disorder characterized by multiple congenital skin and visceral lesions, profound thrombocytopenia, and gastrointestinal bleeding. The skin lesions may appear red, brown or blue, often misdiagnosed as hemangiomas. The gastrointestinal tract, liver, and lungs are the most common internal organs involved. The severe thrombocytopenia (low platelets) is believed to be the result of platelet trapping within the skin and visceral vascular lesions. Severe and chronic gastrointestinal bleeding is common during infancy and early childhood. Although a relatively newly described entity, MLT was likely previously reported as hemangiomas, blue rubber bleb nevus syndrome, diffuse hemangiomatosis, Kasabach-Merritt phenomenon, and hereditary hemorrhagic telangiectasia. The term cutaneovisceral angiomatosis with thrombocytopenia is also a term used for this same disease. This study is a longitudinal cohort study of MLT to collect detailed clinical data on the distribution of disease, disease severity, and complications. This data will be used to create diagnostic criteria and an evaluation protocol for infants with this disease
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures: * Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight. * Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container. * Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek. * Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest. * Echocardiogram: Heart function is assessed using ultrasound.
The purpose of this six site multi-center study is to determine if BTX-A can alleviate the post-operative pain and improve the functional and quality of life outcomes of children with limb length discrepancy or angular deformity undergoing limb lengthening or deformity correction.