2013 International Pachyonychia Congenita Consortium (IPCC) Symposium

描述（由申请人提供）：本资助申请要求支持第10届国际先天性甲肥厚联盟（IPCC）专题讨论会，题为“实施基于研究的先天性甲肥厚临床研究（PC）。“这次会议是由PC项目（一个501（c）（3）公共慈善机构）组织和共同赞助的，将于2013年2月14日至17日在犹他州帕克城的亚罗酒店（一个残疾人无障碍设施）举行。将尽力 应包括代表性不足的科学家/医生，包括妇女、少数民族和受训人员以及具有儿童健康专门知识的人。 先天性甲肥厚（PC）是一种非常罕见的疾病，在任何一个研究中心只有少数患者。IPCC是一个由超过75名美国和国际科学家和医生组成的小组，他们同意共同开发和翻译治疗PC的疗法。通过合作努力，PC研究和临床研究的进展为其他罕见疾病树立了模式，并对许多其他相关皮肤病的努力有直接的好处。 2013年的研讨会将汇集来自世界各地的专家，为评估已完成的研究、激励新的研究和制定基于已完成研究的合作临床研究的前进道路创造一个强有力的环境。除了IPCC成员的进展报告外，2013年论坛还将得到不同领域专家的投入，包括癌症专家、对其他皮肤病进行研究和临床研究的专家以及疼痛专家。IPCC中疼痛专家的参与将促进对PC患者最重要的这一领域的进展。 这次研讨会得到了许多专家的广泛支持，包括E。 放大图片创作者：Pierre Coulombe，Roger Kaspar，W. H.欧文姆克林，约翰麦格拉思，伦纳德米尔斯通，丹尼斯鲁普，伊莱斯普雷彻和其他人谁觉得这次会议是必不可少的转化为有益的治疗研究发现为患者作为目前没有有效的PC治疗，临床研究是迫切需要的患者患有这种衰弱的疾病。 公共卫生相关性：目前还没有有效的治疗先天性厚甲，一种非常罕见的起泡皮肤病。一群来自不同背景的科学家和医生加入了国际先天性厚甲病联盟（IPCC），以确定和开发有效的PC治疗方法。IPCC的成员在许多小型标签外研究中进行了有效的合作，以确定有效的药物和改进给药方法，并在FDA批准的1b期临床试验中进行了合作。 2013年IPCC会议将制定一项统一的合作计划，将最有效的研究发现推向临床研究，使PC患者以及其他相关皮肤疾病患者受益。

DESCRIPTION (provided by applicant): 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.