Clinical Trials

The purpose of this study is to evaluate the contribution of C. albicans to dysbiotic microbial communities of mucosal tissues in pediatric populations. Prospective sampling across multiples tissue sites in a pediatric cohort will be used to assess which tissues are colonized by C. albicans and associated with microbial dysbiosis seen in atopic dermitis.

We hypothesize presence of C. albicans in the microbial communities in early life is associated with atopy. We will assess the presence of C. albicans in the microbial communities of a population of children at-risk for atopic dermatitis compared to healthy controls who do not have an underlying risk for atopy based off family history. In tandem with the collection of human samples, we will utilize mouse models to validate the influence of C. albicans exposure during early life on the systemic immune populations.

Legg-Calvé-Perthes disease is a childhood hip disorder which is common enough to be a significant public health problem (affects 1 in 740 boys between ages 0-14), but uncommon enough to have a sufficient number of patients from a single institution to perform a definitive prospective study comparing the results of current treatments. The present study will establish a database of prospectively identified patients with Legg-Calvé-Perthes (LCP) Disease and collect information regarding their presentation, treatment, and outcomes in the course of receiving currently available treatments. This study seeks to compare the outcomes of current treatments in the management of different age groups (ages 1-6, 6-8, 8-11, >11) of patients with Perthes disease at two- and five-year followup and at skeletal maturity. For each age group, two to three common treatment regimens currently used by practicing pediatric orthopaedic surgeons will be compared. The intervention a patient receives is determined through physician treatment expertise, and is not pre-determined by the study.

The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.

The postnatal diagnosis of Long QT Syndrome (LQTS) is suggested by a prolonged QT interval on 12 lead electrocardiogram (ECG),a positive family history and/or characteristic arrhythmias and confirmed by genetic testing.  LQTS testing cannot be performed successfully before birth as   fetal ECG is not possible and direct measure of the fetal QT interval by magnetocardiography is limited. Genetic testing can be performed in utero, but there is risk to the pregnancy and the fetus. Although some fetuses present with arrhythmias easily recognized as LQTS (torsade des pointes (TdP) and/or 2° atrioventricular (AV) block, this is uncommon, occurring in <25% of fetal LQTS cases. Rather, the most common presentation of fetal LQTS is sinus bradycardia, a subtle rhythm disturbance that often is unappreciated to be abnormal. Consequently, the majority of LQTS cases are unsuspected and undiagnosed during fetal life, with dire consequences. For example, maternal medications commonly used during pregnancy can prolong the fetal QT interval and may provoke lethal fetal ventricular arrhythmias. But the most significant consequence is the missed opportunity for primary prevention of life threatening ventricular arrhythmias after birth because the infant is not suspected to have LQTS before birth. The over-arching goal of the study is to overcome the barriers to prenatal detection of LQTS. The investigators plan to do so by developing an algorithm using fetal heart rate (FHR) which will discriminate fetuses with or without LQTS. Immediate Goal: The investigators propose a multicenter pre-birth observational cohort study to develop a Fetal Heart Rate (FHR)/Gestational Age (GA) algorithm from a cohort of fetuses recruited from 13 national and international centers where one parent is known by prior genetic testing to have a mutation in one of the common LQTS genes: potassium voltage-gated channel subfamily Q member 1 (KCNQ1), potassium voltage-gated channel subfamily H member 2 (KCNH2), or sodium voltage-gated channel alpha subunit 5 (SCN5A). The investigators have chosen this population because 1) These mutations are the most common genetic causes of LQTS, and 2) Offspring will have high risk of LQTS as inheritance of these LQTS gene mutations is autosomal dominant. Thus, progeny of parents with a known mutation are at high (50%) risk of having the same parental LQTS mutation. The algorithm will be developed using FHR measured serially throughout pregnancy. All offspring will undergo postnatal genetic testing for the parental mutation as the gold standard for diagnosing the presence or absence of LQTS.

The purpose of this trial is to identify cancer survivors who are at increased risk of developing late-occurring complications after undergoing treatment for childhood cancer. A patient's genes may affect the risk of developing complications, such as congestive heart failure, heart attack, stroke, and second cancer, years after undergoing cancer treatment. Genetic studies may help doctors identify survivors of childhood cancer who are more likely to develop late complications.

The purpose of this study is to compare the difference in the ability to detect blood flow abnormalities between invasive assessments performed at rest versus exercise.

The first aim of this study is to verify that the TCR beta sequencing and curation platforms we will be using are able to identify patients with severe COVID-19 based on the TCR repertoires. This may be accomplished by testing and analyzing results between two cohorts: patients presenting acutely to MCF with mild COVID-19 and patients presenting with severe COVID-19. This will be accomplished by utilizing the the immunoSEQ Human T-cell Receptor Beta (hsTCB) Assay (Adaptive Biothechnologies) and the publicly available ImmuneCODE Open Access Database to confirm previously published data (PMID: 34253751). Both procedures will be performed by the company that created both platforms, Adaptive Biothechnologies.

The second aim of this study is to sequence the TCR receptors of participating patients and identify TCR motifs that may indicate a predisposition to (or protection from) severe SARS-CoV-2, leading to possible risk stratification of such patients, and whether or not age, gender or ethnicity has any contribution to said risk. This may require that we examine all three cohorts listed in the Subject Information section.

The third aim is to measure SARS-CoV-2 anti-spike and anti-nucleocapsid antibodies to distinguish patients that have not been exposed to SARS-CoV-2 to those that have been exposed.

The purpose of this study is to study the length of the QTc interval in patients receiving the standard of care dose of intravenous droperidol for headache or migraine, nausea, pain, and indications other than agitation over 30 minutes.

The aim of this study is to examine the role of mast cell mediators in children with allergic disorders in a two part study. Part 1 of the study will prospectively obtain the values of mast cell mediators, including 2,3 dinor 11β-PGF2α, n-MH, and LTE4 in the urine of a healthy pediatric reference population. Part 2 of the study will prospectively evaluate the urine concentrations of mast cell mediators in a cohort of pediatric allergic disorder patients including asthma, allergic rhinoconjunctivitis, eczema, urticaria, systemic anaphylaxis, and mast cell disorders, as well as POTS (postural orthostatic tachycardia syndrome). Comparisons of these values in the disease cohort will be made utilizing the pediatric expected reference intervals established in Part 1. Further analysis will determine if one or several urine mast cell mediators are elevated in a particular allergic disorder.

The primary purpose of this study is determine the frequency of positive visual symptoms including visual snow in pediatric patients seen for general pediatric care as well as for neurologic care.  

The secondary purpose is to determine if positive visual symptoms are more common in pediatric patients who also have a self-reported history of headache or migraine.