A Study of the Prevalence of Apolipoprotein L1(APOL1) Alleles Among Individuals With Proteinuric Kidney Disease Who Are of Recent African Ancestry or Geographic Origin Save

Date Added
June 9th, 2020
PRO Number
Pro00098923
Researcher
Roberto Pisoni

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Keywords
Genetics, Kidney, Minorities, Rare Diseases
Summary

The purpose of the study is to test to see if people with Focal Segmental Glomerulosclerosis (FSGS) have a genetic mutation (changes in DNA) so we can learn more about this disease. FSGS is a disease in which scar tissue develops on the parts of the kidneys that filter waste out of the blood. The FSGS in potential participants will be identified through previous kidney biopsy results in medical records and previous urine sample analysis results. The study will also help find people with a genetic mutation who may be interested in participating in future research studies.

Institution
MUSC
Recruitment Contact
Marcie Pregulman
843-792-8166
pregulma@musc.edu

Open-Label Exploratory Study of Oral MYK-491 in Stable Ambulatory Patients with Primary Dilated Cardiomyopathy due to MYH7 Mutation. Save

Date Added
April 14th, 2020
PRO Number
Pro00095947
Researcher
Daniel Judge

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Keywords
Cardiovascular, Genetics
Summary

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (the levels of drug in the blood) and pharmacodynamics (the effect of the drug on your body) of the study drug, MYK-491, when administered orally twice a day for about one to two weeks.The study will recruit patients with an enlarged heart and weakened heart muscle not caused by heart damage from a heart attack or heart valve problem. Eligible patients must also have a specific genetic mutation called MHY7. All subjects that qualify will receive MYK-491 (no placebo, or inactive pill will be dispensed during the study). The study medication is designed to improve cardiac contractility or the ability of the heart to squeeze.

This study has two treatment periods during which multiple doses of MYK-491 (the study drug) will be administered. Once Treatment Period 1 is completed, participants will return to the clinical site for study assessments and to obtain a dose for Treatment Period 2. The investigator will review the results of the study assessments and participants will learn if they will receive a lower or higher dose of MYK-491 for Treatment Period 2 than they received in Treatment Period 1. The expected study duration ranges from about 4 weeks to 11 weeks, including about 1-8 weeks for screening, 9 to 15 days for IMP dosing and an approximately 1 week (7

Institution
MUSC
Recruitment Contact
Deborah Everidge
843-792-2944
adamsde@musc.edu

Topical treatment for superficial disseminated actinic porokeratosis: A Single-Blinded Comparison Between Lovastatin/Cholesterol and Lovastatin Save

Date Added
April 7th, 2020
PRO Number
Pro00096259
Researcher
Dirk Elston

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Keywords
Drug Studies, Genetics, Inflammation, Pain, Rare Diseases, Skin
Summary

The purpose of this research is to treat disseminated actinic porokeratosis (DSAP) with cholesterol/lovastatin or lovastatin alone. The goal of treatment is to decrease (DSAP) lesions after 12 weeks of treatment and compare which treatment is best.

The study is single-blinded and randomized, meaning the patients will not be told of which treatment they will receive, and the decision of which treatment they will receive will be completely random. The patient will also agree to close up photographs and clinical photographs taken of their disseminated actinic porokeratosis at the initial visit. At weeks 4, 8, and 12, the patients will complete a virtual visit. The subject will take a picture (phone camera/digital camera) of their lesions/skin markings with a measuring instrument. These photos will be shared with the investigators. Physical exam, photographs, and a review of of the subjects medical records will occur in the study. Changes in size, appearance, and pain will be monitored throughout the study.

The possible benefit of joining this study is that the treatment received may be more effective than the other study treatment or than other available treatments for DSAP, although this cannot be guaranteed.

Institution
MUSC
Recruitment Contact
Alan Snyder
9106195832
snydeala@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) Save

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 Multicenter, Randomized, Sham-controlled Study to Evaluate Safety and Efficacy After Treatment with the Nuvaira™ Lung Denervation System in Subjects with Chronic Obstructive Pulmonary Disease (COPD) (AIRFLOW-3) Save

Date Added
August 27th, 2019
PRO Number
Pro00087312
Researcher
Charlie Strange

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Profiles_link
Keywords
Genetics, Lung, Pulmonary, Shortness of Breath
Summary

The primary purpose of conducting this study is to see if TLD (Targeted Lung Denervation) Therapy in addition to standard optimal medical care is better at reducing a moderate or severe exacerbation (also known as a COPD flare-ups or worsening of symptoms) and related hospitalizations than optimal medical care alone. TLD Therapy is done by passing a bronchoscope, with a special device (catheter) inserted through it, into the lungs. This special catheter delivers a type of electrical energy called radiofrequency (or RF) energy to the nerves located on the outside of the airways. As with many bronchoscopic procedures, this is done while under anesthesia. TLD Therapy does cause a permanent change to a person's lungs. To test this, participating patients will be randomly assigned (in a 1:1 ratio) to receive one of two different treatments, either TLD Therapy in addition to optimal medical care or optimal medical care alone.
Some sites, including MUSC, will also be collecting 3 airway brushes to look at inflammatory biomarkers in the lungs. A biomarker is anything that can be used as an indicator of a particular disease state.
If you choose to participate in this study, it is estimated that you will be involved in this study for approximately 62 months. Participation will take around 11 clinical site visits and 9 follow up phones calls over a period of 5 years. The participant and person obtaining consent will sign the informed consent form and the participant will receive a copy before any study procedures occure.

Institution
MUSC
Recruitment Contact
Eryn Varano
843-792-1219
varanoe@musc.edu

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects with Symptomatic Transthyretin Amyloid Cardiomyopathy (ATTRIBUTE-CM Trial) Save

Date Added
March 4th, 2019
PRO Number
Pro00086011
Researcher
Daniel Judge

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Keywords
Cardiovascular, Genetics, Heart
Summary

Amyloidosis (ATTR) Cardiomyopathy (CM) is a progressive, fatal disease in which amyloid deposits build up slowly, over the course of many years to cause organ damage. This study is evaluating the safety and tolerability of a new drug called AG10 administered to adult patients with symptomatic transthyretin amyloid cardiomyopathy. The participant will be randomized to the study drug or placebo and take the study drug two times per day for 30 months.

Institution
MUSC
Recruitment Contact
Anita Smalls
(843) 876-5011
smaani@musc.edu

Identifying functional regulatory marks underlying monocyte dysfunction in scleroderma Save

Date Added
February 19th, 2019
PRO Number
Pro00085936
Researcher
Paula Ramos

List of Studies


Profiles_link
Keywords
Autoimmune disease, Ethnicity and Disease, Genetics, Healthy Volunteer Studies, Immune System, Inflammation, Minorities, Scleroderma, Women's Health
Summary

Scleroderma (systemic sclerosis) is a chronic autoimmune disease, characterized by dysregulation of immune cells in the blood and subsequent fibrosis and vascular dysfunction, associated with significant mortality and morbidity, disproportionately affecting women and African Americans, and without satisfactory treatments. Monocytes, a type of blood immune cells, are critically involved, but the mechanisms responsible for their deregulation in scleroderma remain largely unknown. The goal of this project is to understand how the regulation of monocytes differs between scleroderma and healthy individuals. Volunteers will be asked to provide a blood sample, for which modest compensation will be provided. This is not a drug study.

Institution
MUSC
Recruitment Contact
Tyler Malone
843-792-5935
malonety@musc.edu

Neurobiological Correlates of Fear in Veterans with Military Sexual Trauma Save

Date Added
December 4th, 2018
PRO Number
Pro00083967
Researcher
Bethany Wangelin

List of Studies

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Keywords
Anxiety, Genetics, Mental Health, Military, Psychiatry
Summary

The purpose of this study is to better understand the different ways that female Veterans are affected by their experience with military sexual trauma (MST) and to look at the role of several factors that cause some people, but not others, to develop posttraumatic stress disorder (PTSD) or PTSD symptoms. This study is being conducted at the Charleston VA Medical Center, Tuscaloosa VA Medical Center and Atlanta VA Healthcare System. It will involve approximately 150 female Veterans who have experienced MST.

Institution
MUSC
Recruitment Contact
Stephanie Hart
843-789-6519
zeigls@musc.edu

DEVELOPMENT OF AN AUTISM SPECTRUM DISORDER SCREENING TEST BASED UPON METABOLIC PROFILING OF FRESH BLOOD SAMPLES Save

Date Added
October 2nd, 2018
PRO Number
Pro00080964
Researcher
Laura Carpenter

List of Studies


Profiles_link
Keywords
Autism, Genetics, Pediatrics
Summary

No laboratory based diagnostic test for Autism Spectrum Disorder (ASD) currently exists. The goal of this study is to develop blood test for ASD using metabolic profiling, and to then evaluate this test using a large sample of three to six year old children with and without ASD. Having a reliable blood test for ASD will allow for rapid identification of young children who may have ASD, and will allow these children to get expedited access to treatments.

Institution
MUSC
Recruitment Contact
Jessie Montezuma
(843)876-7050
montezum@musc.edu

Human Samples Biorepository Save

Date Added
August 21st, 2018
PRO Number
Pro00072807
Researcher
Federica Del monte

List of Studies

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Keywords
Aging, Cardiovascular, Coronary Artery Disease, Genetics, Heart, Military, Sarcoidosis, Scleroderma, Transplant, Vascular
Summary

The purpose of the study is to generate a bio bank of specimens for research. We will tissue that would otherwise be discarded from clinical or surgical procedure and information from medical records. We will also collect discarded blood, urines and sputum. Collecting samples will help to better understanding the mechanisms of cardiovascular diseases, identify biomarkers for early diagnosis and to predict safety and efficacy of new therapies.

Institution
MUSC
Recruitment Contact
Federica del Monte
843-792-8397
delmonte@musc.edu

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