Clinical Trial Readiness for Rare Diseases, Disorders and Syndromes

Clinical trials are critical to developing and evaluating new treatments for rare diseases. Scientists, however, often do not have enough information about the symptoms and biology of rare diseases to design clinical trials. NCATS, working with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, created the Clinical Trial Readiness for Rare Diseases, Disorders and Syndromes grants to address some of the obstacles scientists face. These obstacles include, among other issues, gaps in our understanding of a rare disease’s natural history and a lack of suitable biomarkers or clinical outcome measures.

Through these grants, NCATS seeks to facilitate rare disease research by enabling efficient and effective movement of candidate therapies or diagnostics toward clinical trials and to increase their likelihood of success. These grants are modeled after a grant program at the National Institute of Neurological Disorders and Stroke.

Contact: Alice Chen Grady, M.D.

Current Funding Opportunities

Funded Research

Principal Investigators Institutions Project Titles
Arnold, Steven E. Massachusetts General Hospital

Biomarkers to Enable ASO Prevention Trials in Genetic Prion Disease Carriers

Bickers, David Rinsey Columbia University Health Sciences Tumor Immune Profiling to Optimize Clinical Trial Readiness in Basal Cell Nevus Syndrome
Byiers, Breanne J. University of Minnesota Evaluating the Psychometric Properties of Three Clinical Trial Outcome Measures for Rett Syndrome
Caldovic, Ljubica; Ah Mew, Nicholas Children’s Research Institute Systemic Biomarkers of Brain Injury from Hyperammonemia
Dwyer, Andrew Alois Boston College Identifying Predictors of Reversible Congenital Hypogonadotropic Hypogonadism
Ghayee, Hans K. University of Florida Preclinical Evaluation of the Efficacy and Mechanism of Action for an Alkylated Polyamine Analogue Diethylnorspermine in Treating Pheochromocytoma/Paraganglioma
Grange, Dorothy Katherine; Nichols, Colin G. Washington University Clinical Trial Readiness for K Channel Inhibitors in Cantu Syndrome
Harris, Peter C.; Lieske, John C. Mayo Clinic Rochester Facilitating Personalized Medicine of Monogenic Stone Patients by Genetic Characterization
Johnson, Nicholas Elwood; Statland, Jeffrey Virginia Commonwealth University Development and Validation of Clinical Outcome Assessments in LGMD2A
Lederman, Howard M.; Lefton-Greif, Maureen A.; Natale, Valerie Johns Hopkins University Methods to Improve Clinical Trials for A-T
Li, Dong Children’s Hospital of Philadelphia Characterization of Rasopathy Mutations Underlying Lymphatic Anomalies and Preparation for Clinical Development
Lynch, David Robinson Children’s Hospital of Philadelphia Frataxin Measurement for Clinical Trial Readiness in Friedreich Ataxia
Muir, Amanda Brooke; Menard-Katcher, Calies D. Children’s Hospital of Philadelphia Distensibility and Remodeling as Markers of Therapeutic Response in Eosinophilic Esophagitis
Neul, Jeffrey L. Vanderbilt University Medical Center Development of a Reliable, Valid and Sensitive Outcome Measure in Rett Syndrome
Nihalani, Deepak Medical University of South Carolina Clinical Assessment of a Novel Non-Invasive Array for Diagnosing Recurrent Focal and Segmental Glomerulosclerosis
Palmer, Scott M. Duke University Proof of Concept Treatment Interventions in a Rodent Model of the Rare Disease Bronchiolitis Obliterans
Shy, Michael E. University of Iowa Clinical Trial Readiness for Rare Diseases, Disorders and Syndromes
Sneag, Darryl Hospital for Special Surgery Magnetic Resonance and Ultrasound Imaging as Biomarkers for Detection and Monitoring of Parsonage-Turner Syndrome (PTS)

Related Information

Read more about the goals of the CTR grants program.

Learn about related programs: