Down syndrome biomarker project

Date Added
June 25th, 2020
PRO Number
Pro00090922
Researcher
Eric Hamlett

List of Studies

Keywords
Alzheimers, Blood Disorders, Brain, Children's Health, Dementia, Inflammation, Vascular
Summary

Alzheimer's disease and Epilepsy may affect over 80% of individuals that have Down syndrome by the age of 60. Biomarkers found in the blood can enhance our understanding of the earliest changes linked to disease and may enhance clinical detection and healthy aging for individuals with Down syndrome.

The purpose of this study is to discover early neurobiological processes underlying the transition from healthy aging to disease. Our research team has developed technology that allows detection of small changes in the brain that get transferred to the blood.

We are recruiting individuals that either have or do not have Down syndrome for this biomarker study. Participants should be between the ages of 6 months and 85 years old and may include mothers and siblings of a child with Down syndrome. Infants and children will require consent form a parental or legal guardian.

Each participant will provide a blood sample for research purposes. We will also gather some basic health information about senses, habits, exercise level and smoking/vaping exposures.

Institution
MUSC
Recruitment Contact
Eric Hamlett
919 357 7543
hamlette@musc.edu

Influenza and Other Emerging Respiratory Pathogens Surveillance Registry

Date Added
May 21st, 2020
PRO Number
Pro00099865
Researcher
Elizabeth Mack

List of Studies

Keywords
Children's Health, Coronavirus
Summary

The largest published COVID-19 pediatric series to date included only 13 patients considered to be critically ill and only described the Chinese outbreak. There are essentially no data outside of this and nothing to begin to understand the prevalence of severe/critical pediatric COVID-19, the risk factors associated with this illness, outcomes from COVID-19, and factors (patient or treatment) that may be associated with an improved or worsened outcome. This study will identify all children admitted to an inpatient unit with a diagnosis of COVID-19. Clinical data will be collected through medical record review to describe in detail the demographics and clinical characteristics, including clinical course and treatment, of infected children who require hospitalization.

Institution
MUSC
Recruitment Contact
Andrew Atz
843-876-1698
atzam@musc.edu

ATHN 9: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment for People With Severe Von Willebrand Disease (VWD)

Date Added
January 27th, 2020
PRO Number
Pro00092790
Researcher
Stephanie Ambrose

List of Studies

Keywords
Adolescents, Blood Disorders, Children's Health, Circulation, Dental, Genetics, Infant, Joint, Men's Health, Minorities, Muscle, Non-interventional, Nose, Obstetrics and Gynecology, Pain, Pediatrics, Periodontal Disease, Rare Diseases, Rheumatoid, Surgery, Women's Health
Summary

ATHN 9 is a natural history study to assess the safety of various Von Willebrand Factor (VWF) regimens for different indications (on-demand, surgery and prophylaxis) in adult and pediatric participants with clinically severe congenital VWD.

Institution
Palmetto
Recruitment Contact
Shannon Cearley
803-434-4088
shannon.cearley@prismahealth.org

A Phase 2b, Multicenter, Randomized, Open-label, Controlled, 3-Arm Study to Evaluate the Clinical Efficacy and Safety of SHP607 in Preventing Chronic Lung Disease Through 12 Months Corrected Age Compared to Standard Neonatal Care in Extremely Premature Infants

Date Added
December 10th, 2019
PRO Number
Pro00091762
Researcher
Carol Wagner

List of Studies

Keywords
Children's Health, Infant, Pediatrics
Summary

Babies that are born extremely prematurely are at higher risk of developing chronic (long term) lung disease (CLD) and other complications (problems). The purpose of this study is to test the safety and effectiveness of an investigational drug called mecasermin rinfabate (rhIGF-1/rhIGTBP-3) or SHP607. The researchers want to find out if SHP607 can help reduce the risk of chronic lung disease in babies born prematurely and if it can help reduce the risk of other complications.

Institution
MUSC
Recruitment Contact
Della MacNicholas
843-792-8385
macnichd@musc.edu

Assessing Mental Health Resources in U.S. Trauma Centers for Families Affected by Pediatric Traumatic Injury

Date Added
September 27th, 2019
PRO Number
Pro00091869
Researcher
Leigh Ridings

List of Studies

Keywords
Children's Health, Depression, Mental Health, Pediatrics, Surgery
Summary

Pediatric traumatic injury (PTI) – defined as unintentional injury requiring hospitalization and, often, extended periods of physical and emotional recovery – is experienced by 300,000 children in the U.S. annually. Roughly 20-40% of children and caregivers develop posttraumatic stress disorder (PTSD) and/or depression following PTI, yet most U.S. trauma centers fail to provide even basic mental health screening post-injury. It is critical to advance our knowledge of available mental health services in trauma centers for this frequently overlooked population to accelerate their physical and emotional recovery. In this project, trauma center providers across the U.S. will complete a survey and a qualitative interview to assess their current protocols and resources available to screen and treat children and families' mental health in the aftermath of PTI, as well as their opinions regarding feasibility of implementing protocols to better address the emotional health recovery within this population.

Institution
MUSC
Recruitment Contact
Leigh Ridings
843-792-5146
ridingle@musc.edu

Managing AsThma AnD Obesity Related Symptoms (MATADORS) study: An mHealth intervention to facilitate symptom self-management among youth

Date Added
August 8th, 2019
PRO Number
Pro00090560
Researcher
Michelle Nichols

List of Studies

Keywords
Adolescents, Asthma, Children's Health, Depression, Obesity, Pain
Summary

Youth with one or more chronic diseases are at increased risk of further complications, disease, or even early death as they enter their adult years. Recent increases in both asthma and obesity among youth have led to high health care utilization, increased health-related complications, and expanded risks of subsequent cardiovascular disease burden. The research team will develop educational content in core areas (e.g., fatigue, physical activity) for Managing AsThma AnD Obesity Related Symptoms (MATADORS), an mHealth technology-enhanced nurse-guided intervention. Youth with asthma and obesity and their primary caregivers will participate in interviews to explore their perspectives on barriers, facilitators, needs, and preferences toward adopting health behaviors, medication adherence, disease awareness, symptom self-management behaviors, and utilization of a mobile smartphone platform. Additional details on content availability, delivery approaches, system needs, and functionality will be explored through semi-structured interview questions. Health care providers (physicians, nurses, nurse practitioners, dietitians, and respiratory and exercise therapists) will be invited to participate in interviews to seek their input on patient-caregiver needs, priority clinical focal areas, recommendations for symptom self-management, and preferences for intervention delivery. Interview findings will be used to inform intervention and app design. Providing youth with strategies to enhance symptom self-management may result in decreased symptom prevalence, improved quality of life, and long-term reduction of cardiovascular morbidity and mortality as they move into adulthood.

Institution
MUSC
Recruitment Contact
Margaret Prentice
843-792-4771
prenticm@musc.edu

eACT (epilepsy: Adherence in children and technology)

Date Added
May 4th, 2019
PRO Number
Pro00087259
Researcher
Janelle Wagner

List of Studies

Keywords
Children's Health, Epilepsy, Pediatrics
Summary

The aim of this multi-site study is to evaluate the effectiveness of mHealth intervention strategies for improving anti-epileptic drug adherence in caregivers of young children with epilepsy. A 2-month baseline period will be followed by two stages. In Stage 1 (3-months), caregivers will received either 1) a mHealth education module and automated digital reminders or 2) the mHealth education module, automated digital reminders, and individualized adherence feedback based. In Stage 2 (2-months), caregivers will either receive 1) continued individualized adherence feedback or 2) individualized adherence feedback and a mHealth problem-solving module. The primary outcome is electronically-monitored adherence. Secondary outcomes include seizure severity/frequency, quality of life and healthcare utilization.

Institution
MUSC
Recruitment Contact
Millie Griffin
843-792-4653
grifm@musc.edu

AN OPEN-LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY AND EFFICACY OF DUPILUMAB IN PATIENTS ≥6 MONTHS TO <18 YEARS OF AGE WITH ATOPIC DERMATITIS

Date Added
November 13th, 2018
PRO Number
Pro00076016
Researcher
Lara Wine Lee

List of Studies

Keywords
Children's Health, Skin
Summary

This is a clinical research trial that will evaluate whether an investigational drug called dupilumab (given by injection) is safe and effective in children with severe atopic dermatitis.

Institution
MUSC
Recruitment Contact
Natalie Naylon
843-792-5824
naylon@musc.edu

Detecting the Pathophysiology that Drives Fontan-associated Liver Disease

Date Added
October 5th, 2018
PRO Number
Pro00077466
Researcher
Shahryar Chowdhury

List of Studies

Keywords
Adolescents, Cardiovascular, Children's Health
Summary

The purpose of this study is to evaluate causes and risk factors for liver disease in those whom have 1) undergone the Fontan procedure or 2) whom have dilated cardiomyopathy.

Participants in this study will have a blood sample collected, undergo cardiac magnetic resonance imaging (CMR), a liver magnetic resonance imaging (MRI), shear wave ultrasound elastography (SWE), echocardiography, liver Doppler ultrasound, and an exercise stress test. Participants medical records will be reviewed to collect information on previous medical procedures. Participation is complete once all imaging studies and blood sample have been collected.

This is not a treatment study; if one chooses not to participate, s/he will continue to undergo regularly scheduled clinical procedures.

Institution
MUSC
Recruitment Contact
Joshua Kurtz
843-834-0972
kurtzj@musc.edu

A PHASE 2/3 STUDY INVESTIGATING THE PHARMACOKINETICS, SAFETY, AND EFFICACY OF DUPILUMAB IN PATIENTS AGED ≥6 MONTHS TO <6 YEARS WITH MODERATE-TO-SEVERE ATOPIC DERMATITIS

Date Added
May 8th, 2018
PRO Number
Pro00074957
Researcher
Lara Wine Lee

List of Studies

Keywords
Children's Health, Skin
Summary

This study is being conducted to determine how safe and effective an investigational drug called dupilumab (REGN668) is in reducing the signs and symptoms of eczema. This drug is investigational in that it is not yet approved by government agencies, such as the US Food and Drug Administration (FDA) for the treatment of children. Dupilumab is, however, approved by the FDA for the treatment of AD in adults and adolescents (≥12 years).

Your child's participation in this study will require 9 visits to the study center and 10 phone visits over 4 months.

As part of this study, your child will have a physical exam, blood testing and an electrocardiogram or electrical testing of the heart performed. They will also be given the study drug (dupilumab).

Institution
MUSC
Recruitment Contact
Natalie Naylon
843-792-5824
naylon@musc.edu



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