Request for Information (RFI): Future Directions in Research on Fragile X Syndrome and FMR1-Related Conditions

Notice Number: NOT-HD-17-033

Key Dates
Release Date: January 29, 2018

Related Announcements

Issued by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute of Mental Health (NIMH)
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Sciences (NCATS)


This Notice is a time-sensitive Request for Information (RFI) as part of a trans-NIH effort to update the NIH Research Plan on Fragile X Syndrome and FMR1-related conditions.


Fragile X syndrome (FXS), which results from mutations in the FMR1 gene on the X-chromosome, is the most commonly inherited form of intellectual and developmental disability. The NIH supports and conducts research on the causes, mechanisms, diagnosis, treatment and management of Fragile X Syndrome and FMR1-related conditions: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and other conditions associated with mutations in the FMR1 gene. NIH also supports and conducts research on concomitant symptoms/conditions seen in individuals with these conditions.

With input from experts in the field, NIH issued a Research Plan on Fragile X Syndrome and Associated Disorders in 2009, which outlined a series of specific research goals and objectives. Goal areas in this research plan included:

  • Pathophysiology and pathogenic mechanisms
  • Risk factors for condition onset and progression
  • Screening and diagnosis
  • Treatments and therapeutic interventions
  • Quality of life issues
  • Impact on families
  • Research infrastructure

More detail about goals for specific FMR1-related conditions, as well as objectives within each goal, can be found in the full report:

Information Requested

This Request for Information (RFI) invites researchers in academia and industry, health care professionals, patient advocates, representatives of health advocacy organizations, members of scientific or professional organizations, and other interested members of the public to provide comments and suggestions.

We welcome input that includes, but is not limited to, the following topics:

  1. Gaps/Challenges: Describe the most critical existing gaps in basic, translational, and/or clinical research on Fragile X syndrome and FMR1-related conditions. We are seeking input on the conceptual, practical, or technical challenges currently impeding progress in these research areas, and potential solutions to these challenges. Comments might include the gaps that are most practical to pursue, and/or more high-risk approaches that could give the highest potential short-term and long-term payoffs. We also welcome feedback regarding specific challenges to forming or maintaining effective partnerships to facilitate research progress. Comments could also address approaches which have been less fruitful or should perhaps be lower priorities in future efforts.
  2. Priorities/New Directions: Describe the most important priority areas and new directions the field should pursue over the next 5-10 years to make meaningful advances in understanding and treating FXS and FMR1-related conditions. We are soliciting input regarding which areas are most important for patients, families, clinicians, researchers, and/or funding agencies. We also welcome suggestions for metrics/benchmarks could be used for measuring progress in these priority areas, as well as identification of new resources or tools that could have a potentially transformative impact on research and clinical care. We are also interested in suggestions for specific new partnerships or collaborations that respondents feel are likely to accelerate progress in these areas.
  3. Significant Advances: Identify the most significant recent scientific and clinical advances related to Fragile X syndrome and FMR1-related conditions. These may include advances that address goals and objectives in the 2009 plan, as well as new perspectives not captured in the 2009 plan.

How to Submit a Response

To ensure consideration, responses should be submitted by email to no later than Friday, March 2, 2018. Responses to this RFI are voluntary. Proprietary, classified, confidential, or sensitive information should not be included in your response. You will see an electronic confirmation acknowledging receipt of your response, but may not receive individual feedback.

The NICHD will use the information submitted in response to this RFI at its discretion and will not provide comments to any responder's submission. The Government reserves the right to use any non-proprietary technical information in any resultant solicitation(s). This RFI is for planning purposes only and is not a solicitation for applications or an obligation on the part of the United States (U.S.) Government to provide support for any ideas identified in response to it. No basis for claims against the U.S. Government shall arise as a result of a response to this request for information or from the Government’s use of such information.


Please direct all inquiries to:

Tracy King, MD, MPH
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Telephone: 301-402-1822
Email: (for issues specifically related to this Request for Information)
Email: (for other questions/information)