The purpose of this funding opportunity announcement (FOA) is to advance translational research for rare musculoskeletal, rheumatic or skin diseases by supporting preclinical projects conducted by small business concerns (SBCs) to develop biomarkers and/or therapies. The 2010 Institute of Medicine Report “Rare Diseases and Orphan Products: Accelerating Research and Development” (https://www.nap.edu/read/12953/chapter/1) called for active involvement and collaboration by the public and private sectors, and emphasized the role of NIH in integrating various stake holders into a comprehensive strategy for supporting all phases of rare diseases research. NIAMS supports research on rare diseases and orphan drugs through various grant mechanisms including research project grants, center awards and training/career development awards. SBCs play an important role in disease research by developing innovative technologies and increasing the commercial application of federally supported research results. However, it can be more challenging for SBCs to achieve profitability in rare diseases research and development due to inherent scientific risks and market limitations caused by the small number of individuals affected by each disease. With this FOA, NIAMS intends to support and enhance research and development conducted by SBCs that may lead to important biomarkers and/or treatments for rare musculoskeletal, rheumatic or skin diseases.
Specific Areas of Research Interest
There are many rare diseases and conditions (defined for the purposes of this FOA as having a prevalence of fewer than 200,000 affected individuals in the United States) within the NIAMS mission, including, but not limited to chondrodysplasias, cutaneous lupus erythematosus, cutis laxa, epidermolysis bullosa, familial Mediterranean fever, fibrodysplasia ossificans progressiva, genetic rickets, hypophosphatasia, ichthyosis, inflammatory myopathies, muscular dystrophies, nemaline myopathies, osteogenesis imperfecta, osteopetrosis, pachyonychia congenita, pediatric rheumatic diseases, pemphigus, pseudoxanthoma elasticum, scleroderma, and vasculititis, as well as conditions such as chronic wounds unique to a rare disease(s), etc. The NIH Office of Rare Diseases Research provides a listing of many other rare diseases (https://rarediseases.info.nih.gov/diseases/browse-by-first-letter/), but only those within the NIAMS mission should be the focus of research projects supported by this FOA. The NIAMS Long-Range Plan (https://www.niams.nih.gov/About_Us/Mission_and_Purpose/long_range.asp) provides a more complete description of NIAMS research interests. If the proposed project focuses on FDA-designated orphan products for a disease/condition in the NIAMS mission with a prevalence of more than 200,000 persons (i.e., not a rare disease), the application can also be considered responsive to this FOA. One of the considerations in funding applications in response to this FOA will be the potential of the project to decrease the burden of disease on patients or families affected by that disease/condition. Because the intent of this FOA is mainly to overcome the inherent scientific risks and market limitations caused by the small number of individuals affected by a rare disease, approaches that are also likely to find applications in the large markets associated with common diseases may receive a lower funding priority.
Research topics that would be responsive to this FOA include, but are not limited to:
- Development of therapies such as drugs, biologics, devices, cells, genes or behavioral interventions
- Development of innovative strategies for the delivery of existing or new drugs
- Biomarker studies focusing on changes in disease-associated biochemistry, imaging, physiology or other measures that would facilitate screening, diagnosis or outcome measures
- Development of outcome measures and methodologies that are tailored for a rare disease and would enhance future observational studies and clinical trials
- Development of FDA-designated orphan products
- Development of 3D human tissue models for rare diseases that can be used to study pathogenesis and test new therapeutics.
This FOA is designed to stimulate translational research on rare diseases and is therefore limited to Phase I SBIR awards. Applications for this FOA may include human subjects research; however, clinical trials are excluded. Applicants could propose to analyze samples from affected subjects and controls, conduct subject interviews or other procedures of clinical research; however, applications that propose to conduct intervention studies will not be considered responsive to the FOA and will not be reviewed.
Applicants are strongly encouraged to develop partnerships with the appropriate patient advocacy groups and/or foundations. These groups are a valuable source of scientific and medical expertise that can help guide product development and provide access to research subjects for future clinical testing.
NIH supports several “innovation platforms” that can facilitate and accelerate therapy development, including the Assay Development and Screening Technology (ADST,https://ncats.nih.gov/adst), the Bridging Interventional Development Gaps (BrIDGs,https://ncats.nih.gov/bridgs/about), the Therapeutics for Rare and Neglected Diseases program (TRND,https://ncats.nih.gov/trnd/about), and the Rare Diseases Clinical Research Network (RDCRN,https://www.rarediseasesnetwork.org/). Small business concerns should consider utilizing these resources to enhance their efforts in developing and testing biomarkers and treatments for rare diseases. This FOA encourages applications for studies that will better position the applicants to leverage these innovation platforms now or at a later phase of development.
See Section VIII. Other Information for award authorities and regulations.