Request Information RFI): Future Directions Research Fragile X Syndrome FMR1-Related Conditions Notice Number: NOT-HD-17-033 Key Dates Release Date: January 29, 2018 Related Announcements NOT-HD-20-009 Issued Eunice Kennedy Shriver National Institute Child Health Human Development NICHD) National Institute Mental Health NIMH) National Institute Neurological Disorders Stroke NINDS) National Center Advancing Translational Sciences NCATS) Purpose Notice a time-sensitive Request Information RFI) part a trans-NIH effort update NIH Research Plan Fragile X Syndrome FMR1-related conditions. Background Fragile X syndrome FXS), results mutations the FMR1 gene the X-chromosome, the most commonly inherited form intellectual developmental disability. NIH supports conducts research the causes, mechanisms, diagnosis, treatment management Fragile X Syndrome FMR1-related conditions: Fragile X-Associated Tremor/Ataxia Syndrome FXTAS), Fragile X-Associated Primary Ovarian Insufficiency FXPOI) other conditions associated mutations the FMR1 gene. NIH also supports conducts research concomitant symptoms/conditions seen individuals these conditions. input experts the field, NIH issued Research Plan Fragile X Syndrome Associated Disorders 2009, outlined series specific research goals objectives. Goal areas this research plan included: Pathophysiology pathogenic mechanisms Risk factors condition onset progression Screening diagnosis Treatments therapeutic interventions Quality life issues Impact families Research infrastructure detail goals specific FMR1-related conditions, well objectives within goal, be found the full report:
https://www.nichd.nih.gov/publications/pages/pubs_details.aspx?from=&pu… Information Requested Request Information RFI) invites researchers academia industry, health care professionals, patient advocates, representatives health advocacy organizations, members scientific professional organizations, other interested members the public provide comments suggestions. welcome input includes, is limited to, following topics: Gaps/Challenges: Describe most critical existing gaps basic, translational, and/or clinical research Fragile X syndrome FMR1-related conditions. are seeking input the conceptual, practical, technical challenges currently impeding progress these research areas, potential solutions these challenges. Comments might include gaps are most practical pursue, and/or high-risk approaches could give highest potential short-term long-term payoffs. also welcome feedback regarding specific challenges forming maintaining effective partnerships facilitate research progress. Comments also address approaches have less fruitful should perhaps lower priorities future efforts. Priorities/New Directions: Describe most important priority areas new directions field should pursue over next 5-10 years make meaningful advances understanding treating FXS FMR1-related conditions. are soliciting input regarding areas most important patients, families, clinicians, researchers, and/or funding agencies. also welcome suggestions metrics/benchmarks be used measuring progress these priority areas, well identification new resources tools could a potentially transformative impact research clinical care. are also interested suggestions specific new partnerships collaborations respondents feel likely accelerate progress these areas. Significant Advances: Identify most significant recent scientific clinical advances related Fragile X syndrome FMR1-related conditions. may include advances address goals objectives the 2009 plan, well new perspectives captured the 2009 plan. to Submit Response ensure consideration, responses should submitted email
fragilexplan@mail.nih.gov later Friday, March 2, 2018. Responses this RFI voluntary. Proprietary, classified, confidential, sensitive information should be included your response. will an electronic confirmation acknowledging receipt your response, may receive individual feedback. NICHD use information submitted response this RFI its discretion will provide comments any responder's submission. Government reserves right use any non-proprietary technical information any resultant solicitation(s). RFI for planning purposes only is a solicitation applications an obligation the part the United States U.S.) Government provide support any ideas identified response it. basis claims against U.S. Government shall arise a result a response this request information from Governments of such information. Inquiries Please direct inquiries to: Tracy King, MD, MPH Eunice Kennedy Shriver National Institute Child Health Human Development NICHD) Telephone: 301-402-1822 Email:
fragilexplan@mail.nih.gov issues specifically related this Request Information) Email:
tracy.king@nih.gov other questions/information)