Identification of Molecular and Genetic Variations Underlying Skin Diseases

Date Added
November 3rd, 2020
PRO Number
Pro00096209
Researcher
Colleen Cotton

List of Studies

Keywords
Cancer, Genetics, Infectious Diseases, Inflammation, Rare Diseases, Skin
Summary

Genetic changes to human skin contribute to a wide variety of conditions and diseases that affect over 20% of the population. However, the genes and molecules that are responsible for human skin development and disease are not fully understood, preventing the development of treatment options. This proposal seeks to better understand one disease in particular, linear morphea, a form of Sclerederma that can affect the skin, muscle, and bone. This study will recruit subjects to collect and use skin tissue for the purpose of identifying the genetic causes of linear morphea.

Institution
MUSC
Recruitment Contact
Alexandra Ritter
757-777-6673
ritteral@musc.edu

Racial/ethnic disparities in systemic lupus erythematosus (SLE) among women: examination of clinical factors and genetics

Date Added
August 11th, 2020
PRO Number
Pro00098592
Researcher
Mara Lennard Richard

List of Studies


Keywords
Autoimmune disease, Ethnicity and Disease, Genetics, Kidney, Lupus, Women's Health
Summary

Systemic lupus erythematosus (SLE) also known as lupus is a complex autoimmune disorder where the immune system attacks itself instead of external pathogens that can cause disease like bacteria or viruses. The large majority of SLE patients are women. The purpose of this study is to better understand how SLE affects overall patient health in women and expression of genes linked to the development of SLE. Part of this study involves collection of a blood sample at a single visit to test expression of genes linked to SLE. This study will compare demographic and clinical characteristics and genetic differences among women with SLE from three racial/ethnic groups. Better understanding of racial/ethnic differences in health and genetic expression of SLE could help reduce poor disease outcomes such as kidney or heart disease. Results will help us learn more about differences in SLE health across different racial/ethnic backgrounds and will guide medical care.

Institution
MUSC
Recruitment Contact
Jonathan Flume
843-792-3926
jof63@musc.edu

A Phase 2a, Open-label, Single-arm, 2-Part Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX‐147 in Adults with APOL1-mediated Focal Segmental Glomerulosclerosis

Date Added
July 21st, 2020
PRO Number
Pro00099956
Researcher
Roberto Pisoni

List of Studies


Keywords
Drug Studies, Genetics, Kidney, Minorities, Rare Diseases
Summary

The study is an open-label study to determine the safety and efficacy of VX-147-101 in subjects who have APOLI dependent FSGS. The study comprises three periods: screening, treatment, and follow-up. The study includes a screening visit to determine if you have the APOLI gene. Participation in this study will last approximately 17 weeks. Participants may choose to participate in an off-treatment observation for up to 12 additional weeks.

Institution
MUSC
Recruitment Contact
Linda Walker
843-792-6109
walkerlp@musc.edu

Molecular links between Alzheimer's Disease and Cardiomyopathy

Date Added
June 16th, 2020
PRO Number
Pro00071077
Researcher
Federica del Monte

List of Studies


Keywords
Alzheimers, Dementia, Genetics, Heart
Summary

Patients with Alzheimer Disease and patients with Heart failure (and a control group free from both the previous mentioned conditions) will be evaluated with cardiac and neuropsychological assessments, in order to investigate the relationship between the two conditions. 8 follow up visits will be repeated yearly, for 8 years.

Institution
MUSC
Recruitment Contact
Gianlorenzo Daniele
843-442-6981
daniele@musc.edu

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

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

List of Studies


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 EITHER MYH7 OR TTN VARIANTS

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

List of Studies


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±1 days) follow-up visit.

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

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

List of Studies


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

Fragile X Online Registry With Accessible Research Database (FORWARD)

Date Added
March 30th, 2020
PRO Number
Pro00097724
Researcher
Caroline Buchanan

List of Studies

Keywords
Genetics, Non-interventional, Rare Diseases
Summary

FORWARD, the Fragile X Registry and Database, is the largest resource of clinical and demographic data of the Fragile X syndrome (FXS) population in the United States. FORWARD was created to improve the care and quality of life for those living with FXS. By collecting and monitoring changing data, researchers and healthcare professionals can better understand the experiences of individuals with FXS and their families. Information collected from families like yours will be used to develop best practice guidelines for the care of individuals with FXS around the world.

Institution
Self Regional
Recruitment Contact
Jennifer Stallworth
8642507944
jstallworth@ggc.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)

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

List of Studies


Keywords
Genetics, Lung, Pulmonary, Shortness of Breath
Summary

The primary purpose of this study is to see if the Targeted Lung Denervation (TLD) therapy (Active Treatment) is more effective than a sham procedure (Sham Control/no TLD therapy) at decreasing moderate or severe exacerbations in patients with COPD on optimal medical care. In addition, the study seeks to compare long-term safety, and other efficacy assessments, between the Active Treatment arm and the Sham Control arm.

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 radio frequency (or RF) energy to the nerves located on the outside of the airways. As with many bronchoscopic procedures, this is done while under anesthesia.

Participants will be randomly assigned (like flipping a coin) to receive one of two different treatments, either TLD Therapy in addition to optimal medical care (Active Treatment) or optimal medical care only (Sham Control). No matter which treatment you receive, you will undergo the same type of procedure, testing and follow-up while remaining on optimal medical care for COPD. You will have an equal chance of being assigned to either Active Treatment or the Sham Control group (1:1 randomization). Neither you or your study doctor will know which treatment you have received until after your 12-month follow-up visit. At the 12-month visit you will find out whether you received the active or sham procedure. If you received the sham procedure you have the option of crossing over into the treatment group and receiving TLD therapy.

Participation in the study will last for approximately 62 months. Depending on which group you are randomized to and if you decide to crossover to the treatment group, there will be 1-2 visits for TLD Therapy or sham control (non-active) procedure, 9-12 in-person clinic visits, and 13-23 phone visits.

Institution
MUSC
Recruitment Contact
Rachel Millan
843-792-0260
millanr@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)

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

List of Studies


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



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