This grant application requests support for the 10th International Pachyonychia Congenita Consortium (IPCC) symposium entitled "Implementing Research-Based Clinical Studies for Pachyonychia Congenita (PC)." This meeting is organized and co-sponsored by PC Project (a 501(c)(3) public charity) and will be held February 14-17, 2013 at the Yarrow Hotel in Park City, Utah (a handicapped accessible facility). Every effort will be made to include underrepresented scientists/physicians, including women, minorities and trainees as well as those with expertise in children's health. Pachyonychia Congenita (PC) is an ultra rare disorder with only a few patients available in any one research center. The IPCC is a group of over 75 US and international scientists and physicians who have agreed to work together in the development and translation of therapeutics to treat PC. Advances in research and clinical studies for PC through collaborative efforts set a pattern for other rare disorders an have a direct benefit to efforts for many other related skin diseases. By bringing experts from around the world together, the 2013 symposium will create a powerful environment to evaluate completed studies, inspire new research and formulate a path forward for cooperative clinical studies based on completed research. In addition to reports of progress from IPCC members, the 2013 forum will be strengthened by input from experts in diverse fields including cancer specialists, experts conducting research and clinical studies for other skin disorders, as well as pain specialists. Involving pain specialists in the IPCC will facilitate progress in this area thatis of highest importance to PC patients. Widespread support for this symposium has been received from many experts including E. Birgitte Lane, Pierre Coulombe, Roger Kaspar, W. H. Irwin McLean, John McGrath, Leonard Milstone, Dennis Roop, Eli Sprecher and others who feel this meeting is essential to translate research discoveries into beneficial treatments for patients As no effective PC treatment is currently available, clinical studies are urgently needed by patients suffering from this debilitating disorder.

Public Health Relevance

There is currently no effective treatment for Pachyonychia Congenita, an ultra rare blistering skin disorder. A group of scientists and physicians from diverse backgrounds have joined together in the International Pachyonychia Congenita Consortium (IPCC) to identify and develop effective PC treatments. Members of the IPCC have effectively collaborated in a number of small off-label studies, in research to identify effective agents and improve delivery methods and worked together in a Phase 1b FDA-approved clinical trial. The 2013 IPCC meeting will result in a unified collaborative plan to move the most effective research discoveries forward to clinical studies to benefit patients with PC as well as patients with other related disorders of the skin.

National Institute of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Conference (R13)
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Arthritis and Musculoskeletal and Skin Diseases Special Grants Review Committee (AMS)
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Baker, Carl
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Pachyonychia Congenita Project
Salt Lake City
United States
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van Steensel, Maurice A M; Coulombe, Pierre A; Kaspar, Roger L et al. (2014) Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. J Invest Dermatol 134:588-91