Funded Research Projects

Magnetic Resonance Spectroscopy Imaging as a Biomarker for FSHD
Principal Investigator: Wagner, Kathryn
Sponsored by the American Academy of Neurology -- 2011 AAN Clinical Research Training Fellowship. Recent advances in the study of heritable neuromuscular disorders have led to multiple promising...
A Novel Xenograft Mouse Model of Facioscapulohumeral Muscular Dystrophy
Principal Investigator: Wagner, Kathryn
The goal of this study is to construct and validate an animal model of FSHD derived from human muscle. Despite being one of the most prevalent neuromuscular disorders worldwide, there have...
Biomarkers of Facioscapulohumeral Muscular Dystrophy (FSHD)
Principal Investigator: Wagner, Kathryn
This NIH-funded study is established to identify biomarkers for facioscapulohumeral muscular dystrophy (FSHD). FSHD patients and their unaffected first degree relative will undergo open muscle biopsy...
Duchenne Muscular Dystrophy: Double-Blind Randomized Trial to Find The Optimum Steroid Regimen (FOR-DMD)
Principal Investigator: Wagner, Kathryn
This Phase III multi-center, double-blind, parallel group, 36 - 60 month study funded by the NIH will compare three corticosteroid regimens in wide use in DMD: 1) daily prednisone (0.75 mg/kg/day); 2...
Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Principal Investigator: Wagner, Kathryn
This study, supported by the FSH Society, will utilize magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) to develop non-invasive, quantitative imaging biomarkers for...
HALO-DMD-01: A Phase 1b Open Label, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) of HT-100 in Patients with Duchenne Muscular Dystrophy
Principal Investigator: Wagner, Kathryn
The study, sponsored by HALO Therapeutics, is designed to provide initial safety, tolerability, and PK data of halofuginone hydrobromide, HT-100, in young boys ages 6-20 years with DMD.  HT-100...
HALO-DMD-02: An Open Label Extension Study of HT-100 in Patients with Duchenne Muscular Dystrophy who have Completed Protocol HALO-DMD-01
Principal Investigator: Wagner, Kathryn
This open-label, multiple dose extension study is designed to evaluate the safety, tolerability, pharmacodynamic signals, and population PK of HT-100, a delayed-release, orally-delivered agent in...
CHAR0312: Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
Principal Investigator: Wagner, Kathryn
The purpose of this research is to collect blood and skin samples from Duchenne Muscular Dystrophy (DMD) patients ages 4 years and above with specific genetic mutations within the dystrophin gene...
Myostatin regulates fate of satellite cells in dystrophic muscle
Principal Investigator: Wagner, Kathryn
The goal of this proposal is to determine whether myostatin, expressed in both skeletal muscle and fibroblasts, regulates the conversion of satellite cells to fibroblasts and whether this conversion...
Partnering to treat an Orphan Disease Duchenne Muscular Dystrophy
Principal Investigator: Wagner, Kathryn
The goal of this program is to develop an investigational drug by Sanofi for a new indication, Duchenne Muscular Dystrophy.  The program includes preclinical toxicology and efficacy studies as...
Biomarkers for Therapy of FSHD
Principal Investigator: Wagner, Kathryn
The goal of this Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center is to define modifying genes of FSHD and to determine, through novel animal models of FSHD, whether these are...
A Three Dimensional Environment for Skeletal Muscle Stem Cell Transplantation
Principal Investigator: Wagner, Kathryn
The purpose of this collaborative project is to develop and test and injectable scaffold embedded with muscle stem cells and a Pfizer drug to facilitate muscle regeneration. Cell based therapies...
Acupressure and Acupuncture as an Intervention with Children with Autism II
Principal Investigator: Warren, Lana
The purpose of this feasibility study is to see if children with autism spectrum disorder (ASD) will tolerate an acupressure and acupuncture intervention twice weekly over a 3 month period of time...
Acyl-CoA Synthetase ACSVL3 in Malignant Glioma: Metabolism and Oncogenic Cellular
Principal Investigator: Watkins, Paul
Malignant glioma accounts for a significant percentage of brain tumors. As these tumors are typically refractory to treatment, there is a need for new and novel therapeutic approaches. Levels of...
Modeling Aggressive Medulloblastoma Using Human Induced Pluripotent Stem Cells
Principal Investigator: Ying, Mingyao
Brain tumors are the most common cause of childhood oncological death, and medulloblastoma (MB) is the most common malignant pediatric brain tumor. Group 3 MB is characterized by amplification and...
Understanding Mechanisms of Lower Extremity Strengthening in Women Heterozygous for X-ALD
Principal Investigator: Zackowski, Kathleen
Sponsored by the ELA Foundation. X-linked adrenoleukodystrophy (X-ALD), a sex-linked progressive neurodegenerative disease, is caused by a defect in the ABCD1 gene. The disease is expressed in...
Predicting Intervention Responsiveness to Improve Rehabilitation in People with Multiple Sclerosis
Principal Investigator: Zackowski, Kathleen
Sponsored by the National Multiple Sclerosis Society -- RG 4668-A-1. Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) distinguished pathologically by...