The translation of hypothesis-driven basic research into clinically useful tests and therapies for patients is challenging, particularly for individuals with rare diseases, because of limited numbers of patients who are geographically widely distributed throughout the US and the world, physicians who rarely see more than one or two patients with rare diseases and have limited training in basic science research and clinical research, and basic science researchers have limited access to patient samples and clinical data. Additionally, the early development of methods and techniques to understand the disease pathogenesis, evaluate potential therapeutic targets, and advance clinical techniques to improve outcome measures for patients are not well-funded by traditional grant mechanisms available to academic medicine. Pilot/demonstration programs are the ideal opportunity to integrate patients and patient foundations, physicians, and scientists to make scientific advancements for individuals with rare diseases. Research in the rare lung diseases, Lymphangioleiomyomatosis (LAM) and Pulmonary Alveolar Proteinosis (PAP), has significantly benefitted from pilot program opportunities at Cincinnati Children's Hospital Medical Center (CCHMC), University of Cincinnati Medical Center (UCMC) and previously via the creation of the Rare Lung Disease Consortium (RLDC), part of the Rare Disease Clinical Research Network from 2003 through 2008. The new RLDC Pilot Program plans to build on these successes with LAM and PAP to continue to fund pilot/demonstration projects in LAM and PAP, as well as fund studies in Familial Interstitial Pneumonia (FIP), Pulmonary Alveolar Microlithiasis (PAM), Hermansky-Pudlak Syndrome (HPS), Alpha-1 anti-trypsin deficiency (A1AT) and additional rare lung diseases. We have solicited pilot proposals in the areas of FIP, PAM, PAP, that propose to perform a cross-sectional study of TERT mutation carriers in a cohort of patients with PIP, proof of concept treatment study with Etidronate for PAM, and a quantitative CT densitometry study to evaluate therapeutic efficacy for PAP. Additional preliminary concept are also included as potential projects for future years.

Public Health Relevance

We will create a pilot clinical research program to support the early development of novel diagnostic tests, therapies and outcome measures for individuals with rare lung diseases. This program will provide opportunities for patients to be engaged and participate in research and training opportunities for researchers and doctors in rare disease clinical research.

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZTR1-CI-8 (01))
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Eu, Jerry Pc
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Cincinnati Children's Hospital Medical Center
United States
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Vicary, Glenn W; Vergne, Yeidyly; Santiago-Cornier, Alberto et al. (2016) Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc 13:1839-1846
Sahin, Mustafa; Henske, Elizabeth P; Manning, Brendan D et al. (2016) Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol 60:1-12
O'Brien, Kevin J; Lozier, Jay; Cullinane, Andrew R et al. (2016) Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. Mol Genet Metab 119:284-287
El-Chemaly, Souheil; Young, Lisa R (2016) Hermansky-Pudlak Syndrome. Clin Chest Med 37:505-11
Fan, Leland L; Dishop, Megan K; Galambos, Csaba et al. (2015) Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme. Ann Am Thorac Soc 12:1498-505
Saito, Atsushi; Nikolaidis, Nikolaos M; Amlal, Hassane et al. (2015) Modeling pulmonary alveolar microlithiasis by epithelial deletion of the Npt2b sodium phosphate cotransporter reveals putative biomarkers and strategies for treatment. Sci Transl Med 7:313ra181
Trapnell, Bruce C (2015) A lymphocyte-mediated cause of secondary PAP. Blood 125:215-6
Suzuki, Takuji; Arumugam, Paritha; Sakagami, Takuro et al. (2014) Pulmonary macrophage transplantation therapy. Nature 514:450-4