Other Rare Disease Initiatives

The Orphan Disease Center (ODC) at the University of Pennsylvania is announcing the 2016 Pilot Grant Program for Improved Therapies of MPS I. The ODC presents this request for applications (RFA) to support research on the development of improved therapies for patients with syndromes due to MPS I including Hurler, Hurler-Scheie and Scheie. All individuals holding a faculty-level appointment at an academic or non-profit institution are eligible to respond to this RFA. Grants will be awarded for an initial period of 1 to 2 years at $150,000 direct costs per year (up to 10% indirect costs allowable); funding for a second year is predicated by adequate progress during year 1 and availability of funding.

All applicants must first submit a letter of Interest (LOI) to be reviewed for consideration of a full application submission.  LOIs are due no later than Monday, February 29, 2016 at 5pm (EST).   

  • LOIs can be uploaded via this form, also found on our website
  • Full application guidelines can be found here.

Research topics relevant to this RFA include the following:

  1. Repurposing of existing small molecule drugs for the treatment of MPS diseases.
    1. Identification of existing pharmaceuticals for treatment in MPS diseases and demonstration of efficacy in cell and animal models of MPS. We will consider applications that propose methods to identify existing drugs that may be useful in MPS diseases using one of many possible experimental approaches, such as in vitro screens of drug libraries, and/or in silico drug identification. We envision this to be a two-year project in which the repurposed drug candidate is identified in the first year and tested in vitro and in vivo in the second year. The ODC will help the applicant to identify collaborators to conduct the MPS-specific animal studies if they are not experienced in this area.
    2. Clinical evaluation of therapeutics that are either approved for, or in clinical trials for, other indications. Support will be considered for re-purposing of these drugs if pre-clinical studies support safety and potential efficacy in models of MPS. The grant should support aspects of translation that will accelerate the path to the clinic. Other sources of funding will likely be necessary to support this bench-to-bedside effort. The applicant should describe and have access to all resources necessary to complete the proposed clinical trial.
  2. Studies on pathogenic mechanisms of MPS diseases that:
    1. Are directed toward the identification of novel therapeutic targets; or
    2. Inform more effective development of molecular, gene or cell therapies.
  3. Discovery and evaluation of potential patient biomarkers that can be used to evaluate the short-term and long-term impact of therapeutics in clinical trials. There is especially the need to find biomarkers that will be responsive to therapies that are given in combination with enzyme replacement therapies.
  4. Novel therapeutic approaches such as gene replacement therapy, genome editing, stem cells, and mRNA transfer. Evaluation of these novel therapies must be conducted in animal models of MPS diseases.

Please visit our website for further details.


The 10th annual Rare Disease Day took place on February 27, 2017 to raise public awareness of rare diseases and the importance of research on these diseases. This event was free and open to the public.

For more information or to watch the webcast of the event, please visit the Rare Disease Day at NIH webpage.

Dr. Peter Merkel (Consortium Principal Investigator of the RDCRN's Vasculitis Clinical Research Consortium) and Ms. Michele Manion (member of the RDCRN's Coalition of Patient Advocacy Groups) presented during the January 2015 NCATS Council/CAN Review Board Meeting.

To access the meeting materials or watch the webcast, please visit the NCATS January 2015 Council webpage.