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
Keywords
Autism, Genetics
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 five 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
Anna Rhea
(843)876-0504
rheaa@musc.edu

Human Samples Bio Repository Save

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

Expanded Access Program for Inotersen (ISIS 420915) in Patients with Hereditary Transthyretin Amyloidosis (hATTR) Save

Date Added
May 22nd, 2018
PRO Number
Pro00078144
Researcher
Katherine Ruzhansky
Keywords
Genetics
Summary

This is an expanded access program, and the primary objective is to provide access to inotersen for patient with hATTR.

Institution
MUSC
Recruitment Contact
Katrina Madden
843-792-9186
maddenka@musc.edu

A Phase 3, Multinational, Randomized, Placebo-controlled Study of ARRY-371797 in Patients with Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation Save

Date Added
April 10th, 2018
PRO Number
Pro00075889
Researcher
Daniel Judge
Keywords
Cardiovascular, Drug Studies, Genetics
Summary

The purpose of this research study is to test if ARRY-371797 is safe and effective in treating dilated cardiomyopathy caused by a genetic mutation to the LMNA gene. This will be demonstrated by the functional capacity of patients in their 6-minute walk tests and quality of life questionnaires.

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

A 5-year Longitudinal Observational Study of the Natural History and Management of Patients with Hepatocellular Carcinoma Save

Date Added
February 28th, 2017
PRO Number
Pro00062918
Researcher
David Koch
Keywords
Cancer, Cancer/Gastrointestinal, Cancer/Other, Digestive System, Genetics, Liver, Obesity, Weight Control
Summary

TARGET-HCC is a 5-year, longitudinal, observational study of the natural history and management of patients with HCC. The study will address important clinical questions that remain unanswered in the management of HCC with a unique research registry of participants with HCC from academic and community real-world practices. TARGET-HCC is disease focused, not drug specific, which allows for continuous acquisition of real-world evidence regarding the natural history, management, and outcomes of treatment with current therapies and new treatments that may be utilized in usual clinical practice.

Institution
MUSC
Recruitment Contact
Francis Beylotte
843-876-4273
beylott@musc.edu

Phase 1/2 Study of Intravenous or Intrapleural Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Alpha-1 Antitrypsin cDNA to Individuals with Alpha-1 Antitrypsin Deficiency Save

Date Added
October 25th, 2016
PRO Number
Pro00059083
Researcher
Charlie Strange
Keywords
Genetics, Lung, Pulmonary, Rare Diseases
Summary

Alpha-1 antitrypsin (Alpha-1, AAT) deficiency is an inherited disease which results from a defect in the alpha-1 gene. Severe AAT deficiency causes emphysema predominant chronic obstructive pulmonary disease (COPD). This is a first in man study of gene therapy to insert a normal Alpha-1 gene into the cells of the body and attempt to make a normal Alpha-1 antitrypsin protein. The purpose of this Phase I/II study is to test the safety of a new gene therapy called AAVrh.10h ?1AT. This gene therapy uses a viral vector called Adeno-Associated Virus to insert the normal Alpha-1 gene into the cells of the body when the vector is placed into the bloodstream or pleural space.

Institution
MUSC
Recruitment Contact
Danielle Woodford
843-792-6280
woodfordd@musc.edu

Alcohol Research Center. Shared clinical assessment core for the Alcohol Research Center clinical projects. Save

Date Added
December 1st, 2015
PRO Number
Pro00050179
Researcher
Konstantin Voronin
Keywords
Alcohol, Drug Studies, Genetics
Summary

This research protocol will be using for initial screening and assessment potential study subjects for their farther participation in the other specific research protocols/components. These research components are part of larger research protocol - Alcohol Center Grant.

Institution
MUSC
Recruitment Contact
Mark Ghent
843-792-1222
ghent@musc.edu

Enroll-HD: A Prospective Study in a Global Huntington's Disease Cohort Save

Date Added
September 10th, 2015
PRO Number
Pro00048038
Researcher
Miroslav Cuturic
Keywords
Genetics, Movement Disorders
Summary

The primary objective of Enroll-HD is to develop a comprehensive repository of prospective and systematically collected clinical research data (demography, clinical features, family history, genetic characteristics) and biological specimens (blood) from individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g., spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation). Enroll-HD is conceived as a broad-based and long-term project to maximize the efficiencies of non-clinical research and participation in clinical research while ensuring privacy and protections for consenting research participants.

Institution
USC
Recruitment Contact
Alyson Grant
803-545-6104
alyson.grant@uscmed.sc.edu

Alcohol Use and Neural Connectivity Save

Date Added
August 4th, 2015
PRO Number
Pro00046264
Researcher
Joseph Schacht
Keywords
Alcohol, Brain, Genetics
Summary

This study uses magnetic resonance imaging (MRI) to compare differences in brain connectivity between people with different levels of alcohol use. The study requires two visits: a clinical interview and assessment, and a 1-hour MRI scan. Subjects must be between the ages of 21 and 35. Compensation is available for eligible subjects.

Institution
MUSC
Recruitment Contact
Lindsay Meredith
843-792-1017
meredith@musc.edu

Analysis of genetic variant and treatment based variations in infants at risk for retinopathy of prematurity (ROP) Save

Date Added
July 31st, 2015
PRO Number
Pro00041164
Researcher
Lakshmi Katikaneni
Keywords
Children's Health, Genetics, Infant, Vision/ Eye
Summary

Infants born early who are in the neonatal intensive care unit will be included if they meet national guidelines for retinopathy of prematurity (ROP) screening exams. Informed consent will be given to the parent(s) or legal guardians. 1.5-2 ml of blood will be drawn from a vein when the child is enrolled in the study and may be drawn again if the child requires treatment of eye disease. A cheek swab will also be obtained. These biologic samples will be shipped overnight to the University of Utah for genetic analysis. Analysis will determine if a change in gene expression causes retinopathy of prematurity. Infants enrolled in the study will be followed clinically per established ROP screening guidelines. They will not require additional study exams.

Institution
MUSC
Recruitment Contact
Kinsey Shirer
843-792-2799
evanssa@musc.edu

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