The International Fragile X Premutation Registry — Recruitment Request

The premutation registry is a HIPAA- and GDPR-compliant registry created to aid researchers in the Fragile X premutation field. It was created by an international advisory committee of dedicated Fragile X professionals from some of the world’s most respected institutions and patient advocacy organizations.

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    How It Works

    Researchers are invited and encouraged to request and utilize the International Fragile X Premutation Registry (IFXPR) for recruitment purposes.

    You will not receive participant data. Instead, the IFXPR team will share your IRB-approved materials with the registrants and they will contact you directly if they are interested in the research opportunity. You must have IRB approval for your project before requesting recruitment support from the registry.

    You will need the following to complete the IFXPR recruitment application:

    • Your contact information
    • Affiliations
    • CV (upload)
    • Project title
    • Project abstract
    • Detailed project description (upload)
    • Project inclusion and exclusion criteria
    • Project timeline
    • Current IRB or Ethics Committee approval letter (upload)
    • Brief description of scientific review
    • Project funding source

    If you have questions, please do not hesitate to reach out to the IFXPR leadership team via Anna De Sonia at anna@fragilex.org.

    Apply  Now
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    Who Are the Registrants?

    Registrants are asked to provide contact, demographic, and basic medical information related to the premutation so they can be invited to participate in future research projects. Additional health questions may be asked of them, but are optional.

    Male and female participants are 18 and older and fall into one of two groups:

    • Fragile X premutation carriers — Includes those diagnosed with or have symptoms of FXTAS or FXPOI.
    • Non-carriers related to someone affected by Fragile X — This group is considered a “family member control” and are important as a comparison group to understand potential effects on health that are specific to the premutation. Examples of family members include spouses, in-laws, siblings, and children.
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    The Registry Team

    The advisory committee is comprised of international Fragile X professionals who have come together to champion the International Fragile X Premutation Registry.

    Read the original article from the Journal of Medical Genetics.

    Registry efforts are led by David Hessl of the UC Davis MIND Institute, and Robert Miller and Anna De Sonia from NFXF.

    • David Hessl, PhD, UC Davis MIND Institute
    • Robert Miller, Director of Clinical & International Relations, National Fragile X Foundation
    • Peter Todd, MD, PhD, University of Michigan
    • Deborah Hall, MD, PhD, Rush University
    • Stephanie Sherman, PhD, Emory University
    • Anne Wheeler, PhD, RTI International
    • Melissa Raspa, PhD, RTI International
    • Jayne Dixon-Weber, Former Director of Education & Support Services, National Fragile X Foundation
    • Sundus Alusi, MBChB, MD, FRCP, The Walton Centre
    • Karen Lipworth, Fragile X Association of Australia
    • Jim Grigsby, PhD, University of Colorado
    • Maureen Leehey, MD, University of Colorado
    • Trevor Hawkins, MD, University of Colorado
    • Ana María Cabal Herrera, MD, Congenital Malformations and Dysmorphology (MACOS), Universidad Del Valle
    • Jonathan Cohen, Fragile X Alliance Inc.
    • Tamaro S. Hudson, PhD, MPH, Howard University
    • Sonya K. Sobrian, PhD, Howard University
    • Hilary Rosselot, Executive Director, National Fragile X Foundation

    You can also read each members’ full bio.

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    The IFXPR Recruitment Application

    Please complete the form below to submit your application to utilize the International Fragile X Premutation Registry (IFXPR) for recruitment purposes. Note that you must have IRB approval for your project before requesting recruitment support from the registry.

    Questions?

    If you have questions, please do not hesitate to reach out to the IFXPR leadership team via Anna De Sonia at anna@fragilex.org or (202) 747-6203. Other contacts:

    David Hessl, Registry Lead, UC Davis MIND Institute
    (916) 703-0249
    drhessl@ucdavis.edu

    Glenda M Espinal, UC Davis
    (916) 703-0470
    hs-ifxpr@ucdavis.edu

    Robert Miller, National Fragile X Foundation
    (202) 747-6207
    robby@fragilex.org

    International Fragile X Premutation Registry — Institutional Review Board
    2921 Stockton Blvd., Suite 1400, Room 1429
    Sacramento, CA 95817

    (916) 703-9151
    hs-irbadmin@ucdavis.edu

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    Related Resources

    NFXF Data Repository