The HEALthy Brain and Child Development Study (HBCD)
This multi-site consortium research study, entitled the HEALthy Brain and Child Development (HBCD) study, will prospectively examine human brain, cognitive, behavioral, social, and emotional development beginning prenatally through age 10 years. The study will determine the short- and long-term impacts of a variety of potentially harmful as well as protective environmental factors. These include prenatal substance use, mental health, stress, sociodemographics, biological and genetic factors, and parent/child interaction. The overall goal of this study is to understand the neurodevelopmental trajectories of children growing up in diverse environments. A sample of ~7,500 pregnant women will be recruited from 25 sites across the U.S. and they and their liveborn children will be followed for 10 years.
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The Hirschsprung Disease Research Collaborative
Hirschsprung disease (HSCR) is a neurodevelopmental defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. The disorder has a population incidence of 1/5,000 live births and most often occurs as an isolated phenotype. However, approximately 30% of HSCR cases are associated with other birth defects such as Down syndrome, deafness, hypopigmentation, and Congenital Central Hypoventilation syndrome (CCHS, aka Ondine’s curse). Hirschsprung disease is a genetic condition sometimes recognized with autosomal dominant and autosomal recessive inheritance, but is generally multifactorial. While several genes associated with HSCR have been identified, it is expected that additional genes play important roles in the disorder. Furthermore, much remains to be understood about the mechanisms of genetic variants involved in the disease and how variants in multiple genes interact to lead to the diverse forms of HSCR. The objective of the Hirschsprung Disease Research Collaborative (HDRC) is to build a large collection of data and biological samples of individuals with HSCR by which genetic data can be linked to detailed and accurate phenotypic information. HDRC members (surgeon champions at diverse medical centers) will collect samples and data through a multi-site study where Dr. Aravinda Chakravarti’s laboratory at NYU School of Medicine serves as the coordinating center. The data and samples collected by HDRC members will not only be available for genetic studies, but will form a biobank from which HDRC members can request access to de-identified samples and data for use in their own IRB-approved studies. The goal of the genetic studies carried out with HDRC samples is to complete the identification of HSCR susceptibility genes and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies. We also intend to ascertain the frequency with which HSCR gene variants, individually and together, lead to the diverse forms of HSCR. Finally, we use these results together with the clinical information we collect to investigate possible genotype-phenotype correlations and their relationship with medical, surgical and pathological data on participants.
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The impact of postoperative Voice use on vibratory measures in a collaborative observational cohort Study who undergo phonosurgery.
The purpose of this research study is to find the ideal time of voice rest after vocal fold surgery and improve the vocal rehabilitation guidelines.
The IRIS trial: A clinical trial for people living with active lupus nephritis (LN)
IRIS is looking to see if a new FDA-approved therapy called SAPHNELO® may be effective in treating people with active LN. SAPHNELO® is the brand name for the medication anifrolumab. This medication is a monoclonal antibody. It binds to the type I interferon receptor, blocking the activity of type I interferons such as interferon-a and interferon-B.
The natural history of partial ligamentous tears in the wrist: a single-center observational study
Partial tears of the scapholunate ligament (SLL) and triangular fibrocartilage complex (TFCC) are common, but their natural history is poorly understood. The majority of these injuries are treated conservatively early and only considered for surgical treatment if symptoms persist beyond 3-6 months. The purpose of this study is to examine patients with SLL and/or TFCC injuries prospectively over the course of 12 months, using both clinical exam and radiologic findings. Patients seen in the office with suspected tears on clinical exam will have wrist MRIs without intra-articular contrast after the initial diagnostic visit, within four weeks from the injury, as well as at 6 months and 12 months following initial evaluation. We hope to shed light on the morphologic changes in these tears over time, in the absence of surgical intervention.
The New York City Study of Fertility and Environmental Exposures (NYC FREE): A single-center observational study of environmental and lifestyle influences on health and reproduction
NYC FREE is a reproductive health study that will enroll people of reproductive age who have the potential to become pregnant in the near future and partners of these individuals. The overall aim of this project is to create a biobank that will facilitate future studies on the relation of environmental and lifestyle factors with reproductive health and human fecundity.
THE NEW YORK MOVEMENT DISORDER STUDY
Movement disorders represent a major public health crisis. Large longitudinal clinicopathological studies form the basis for studying the symptomatology, epidemiology, progression and pathogenesis of these diseases. In addition, by studying blood and brain tissue for biomarker and genetic studies has the potential to pave the way towards new diagnostics and uncover underlying pathogenic mechanisms that can be targeted for therapeutic development. The goal of this project is to perform a clinicopathological study of a large cohort of patients with movement and related disorders drawn from the patients at the Robert and John M. Bendheim (RJB) Parkinson and Movement Disorders Center and at The NYU Langone Health The Marlene and Paolo Fresco Institute for Parkinson’s and Movement Disorders (Fresco Institute). Movement disorders represent a large group of related diseases that include Parkinson’s disease, dystonia, essential tremor, myoclonus, chorea, and others. Here, volunteers will be assessed for clinical and neuroradiological features in an ongoing way during their disease course. Blood will be collected for genetic and biomarker studies. In addition, we will recruit healthy adult volunteers who will serve as controls to test the specificity of our findings. Finally, patients will be offered the opportunity to serve as brain tissue donors. These clinical and neuropathological variables will stored using the secure Research Electronic Data Capture (REDCap) web-based software and correlative studies will be performed.
The Parkinson s Progression Markers Initiative (PPMI) 2.0 Clinical - Establishing a Deeply Phenotyped PD Cohort
The Parkinson Progression Marker Initiative 2.0 (PPMI 2.0) is a longitudinal, observational, multi-center natural history study to assess progression of clinical features, digital outcomes, and imaging, biologic and genetic markers of Parkinson’s disease (PD) progression in study participants with manifest PD, prodromal PD, and healthy controls. The overall goal of PPMI 2.0 is to identify markers of disease progression for use in clinical trials of therapies to reduce progression of PD disability.