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

Clinical Trial Readiness for Rare Diseases, Disorders, and Syndromes (R03 Clinical Trial Not Allowed)
PAR-23-160 · Posted Date: 04/13/2023

Clinical Trial Readiness for Rare Diseases, Disorders, and Syndromes (R21 Clinical Trial Not Allowed)
PAR-23-159 · Posted Date: 04/13/2023

Funded Research

Clinical Trial Readiness for Rare Diseases, Disorders, and Syndromes (R03 Clinical Trial Not Allowed)

Principal Investigator(s) Year Awarded Institution Title
Weese-Mayer, Debra Ellyn 2022 Lurie Children's Hospital of Chicago PHOX2B Congenital Central Hypoventilation Syndrome (CCHS) Physiologic Signatures in Readiness for Future Clinical Trials
Erkan, Elif 2021 Cincinnati Children's Hospital Medical Center Urinary Lipidomic Profile in FSGS: A Novel Biomarker
Wheeler, Anne Caroline; Sadhwani, Anjali 2021 Research Triangle Institute Determining Minimal Clinically Important Differences for Neurodevelopmental Outcome Measures in Angelman Syndrome
Dwyer, Andrew Alois 2020 Boston College Identifying Predictors of Reversible Congenital Hypogonadotropic Hypogonadism
Nihalani, Deepak 2019 Medical University of South Carolina Clinical Assessment of a Novel Non-Invasive Array for Diagnosing Recurrent Focal and Segmental Glomerulosclerosis

Clinical Trial Readiness for Rare Diseases, Disorders, and Syndromes (R21 Clinical Trial Not Allowed)

Principal Investigator(s) Year Awarded Institution Title
Ahrens-Nicklas, Rebecca Clare 2022 Children's Hospital Of Philadelphia Disease Severity Stratification in Multiple Sulfatase Deficiency
Bettegowda, Chetan; Holdhoff, Matthias 2022 Johns Hopkins University Cell-free DNA-Based Analysis for Diagnosis, Monitoring and Optimization of Therapy for Patients with Primary Central Nervous System Lymphomas
Ferkol, Thomas W.; Storch, Gregory A. 2022 Washington University Characterizing Respiratory Exacerbations in Primary Ciliary Dyskinesia
Gupta, Nishant 2022 University of Cincinnati Menstrual Cycle-Related Symptom Variability as a Prognostic Indicator in Lymphangioleiomyomatosis
Ou, Yangming; Comi, Anne M.; Pinto, Anna Lecticia 2022 Boston Children's Hospital Brain MRI to Pre-Symptomatically Predict Seizure Onset for Sturge-Weber Syndrome
Rosenfeld, Margaret 2022 Seattle Children's Hospital Clinical Trial Readiness - Primary Ciliary Dyskinesia (CTR-PCD)
Saba, Julie D. 2022 University of California, San Francisco Validating Absolute Lymphocyte Count and Plasma Sphingosine-1-Phosphate as Disease Biomarkers of Sphingosine Phosphate Lyase Insufficiency Syndrome in Anticipation of a Pyridoxine Clinical Trial
Sisley, Stephanie Renee; Elsea, Sarah H. 2022 Baylor College of Medicine Refining Metrics of Food Behavior in Smith-Magenis Syndrome
Spurney, Robert 2022 Duke University A Novel Therapeutic Approach to Treat Focal Segmental Glomerulosclerosis (FSGS)
Wilkins, Heather M. 2022 University of Kansas Medical Center Functional Biomarkers for ALS
Gartel, Andrei L. 2021 University of Illinois at Chicago Targeting FOXM1 in Chemo-Resistant Monocytic AML
Holinstat, Michael Allan 2021 University of Michigan at Ann Arbor Biomarkers for 12-Lipoxygenase Inhibition as a Therapeutic Intervention for Heparin-Induced Thrombocytopenia and Thrombosis (HIT/T)
Kartha, Reena V. 2021 University of Minnesota Dose Optimization of Nervonic Acid - a Potential Therapy to Alleviate Disease Progression in Adrenoleukodystrophy
Kim, Sarah 2021 University of Florida Optimizing Muscular Dystrophy Clinical Trial Designs Using Modeling and Simulation
Li, Jun; Dortch, Richard 2021 Wayne State University MRI Biomarkers of Disease Progression in Inherited Neuropathies
Peters, Sarika U. 2021 Vanderbilt University Medical Center Clinical Validation of At-Home Methods of Sleep Assessment in Rett Syndrome
Rizzo, William B. 2021 University of Nebraska Medical Center Defining Ichthyosis in Sjogren-Larsson Syndrome for Clinical Trial Preparedness
Thangarajh, Mathula 2021 Virginia Commonwealth University PAR-18-953 (ASCOT-DMD)
Bickers, David Rinsey 2020 Columbia University Health Sciences Tumor Immune Profiling to Optimize Clinical Trial Readiness in Basal Cell Nevus Syndrome
Ghayee, Hans K. 2020 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. 2020 Washington University

Clinical Trial Readiness for K Channel Inhibitors in Cantu Syndrome

Harris, Peter C.; Lieske, John C. 2020 Mayo Clinic Rochester Facilitating Personalized Medicine of Monogenic Stone Patients by Genetic Characterization
Johnson, Nicholas Elwood; Statland, Jeffrey 2020 Virginia Commonwealth University Development and Validation of Clinical Outcome Assessments in LGMD2A
Lederman, Howard M.; Lefton-Greif, Maureen A.; Natale, Valerie 2020 Children’s Hospital of Philadelphia Methods to Improve Clinical Trials for A-T
Li, Dong 2020 Children’s Hospital of Philadelphia Characterization of Rasopathy Mutations Underlying Lymphatic Anomalies and Preparation for Clinical Development
Neul, Jeffrey L. 2020 Vanderbilt University Medical Center Development of a Reliable, Valid and Sensitive Outcome Measure in Rett Syndrome
Palmer, Scott M. 2020 Duke University Proof of Concept Treatment Interventions in a Rodent Model of the Rare Disease Bronchiolitis Obliterans
Sneag, Darryl 2020 Hospital for Special Surgery Magnetic Resonance and Ultrasound Imaging as Biomarkers for Detection and Monitoring of Parsonage-Turner Syndrome (PTS)
Arnold, Steven E. 2019 Massachusetts General Hospital Biomarkers to Enable ASO Prevention Trials in Genetic Prion Disease Carriers
Byiers, Breanne J. 2019 University of Minnesota Evaluating the Psychometric Properties of Three Clinical Trial Outcome Measures for Rett Syndrome
Caldovic, Ljubica; Ah Mew, Nicholas 2019 Children’s Research Institute Systemic Biomarkers of Brain Injury from Hyperammonemia
Lynch, David Robinson 2019 Children’s Hospital of Philadelphia Frataxin Measurement for Clinical Trial Readiness in Friedreich Ataxia
Muir, Amanda Brooke; Menard-Katcher, Calies D. 2019 Children’s Hospital of Philadelphia Distensibility and Remodeling as Markers of Therapeutic Response in Eosinophilic Esophagitis
Shy, Michael E. 2019 University of Iowa Clinical Trial Readiness for Rare Diseases, Disorders and Syndromes

Related Information

Read more about the goals of the CTR grants program.

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