On April 9, 2019, the National Fragile X Foundation provided testimony to support Fragile X research funding at the Centers for Disease Control and the National Institutes of Health. Below is Linda Sorensen’s written testimony.

To learn more about our Fragile X advocacy efforts, visit our advocacy page. To learn more about all we do to facilitate research, visit our research page.


Written Testimony for Linda Sorensen, Executive Director, National Fragile X Foundation

U.S. House Committee on Appropriations, Subcommittee on Labor-HHS-Education-Related Agencies

Tuesday, April 9, 2019

Thank you for the opportunity to provide testimony on the Fiscal Year 2020 Labor-HHS-Education-Related Agencies Appropriations bill. Today I am focusing my testimony on two programs within your jurisdiction: the Fragile X research funding at the National Institutes of Health, in particular for FY2020 the Fragile X research centers at the Eunice Kennedy Shriver National Institute on Child Health and Human Development (NICHD), and the Fragile X program, funded at $2 million, at the CDC’s National Center for Birth Defects and Developmental Disorders.

I am the executive director of the National Fragile X Foundation. We are the patient advocacy group representing the estimated 100,000 individuals in the U.S. with Fragile X syndrome (FXS), 1.5 million carriers of the gene premutation, and the countless parents, grandparents, caregivers, clinicians, doctors, and researchers who care for individuals with Fragile X every day.

Mutations of the Fragile X gene result in behavioral, developmental, cognitive, reproductive, and potentially life-ending neurodegenerative conditions across generations in families and impact affected individuals from cradle to grave. FXS and associated disorders result from a single-gene mutation, which is the most common, known single-gene cause of intellectual disabilities and autism. In fact, research has shown that the Fragile X protein regulates nearly one half of the genes suspected of causing autism. The known premutation issues are Fragile X-associated tremor/ataxia syndrome, a condition similar to Parkinson’s, and Fragile X-associated primary ovarian insufficiency, which causes infertility and early menopause. Research is just now documenting other associated neurological disorders.

National Institutes of Health

The National Institutes of Health are a premier partner in Fragile X research across several of the institutes. One part of that investment are the three Fragile X research centers, authorized by the Children’s Health Act of 2000, and funded through the NICHD. The Centers are funded on 5-year cycles, with current funding expiring at the end of FY2019. The NICHD has not yet issued RFAs for the next round of funding, presumably because the NICHD Strategic Plan, and the associated Fragile X Strategic Plan, are not complete. It makes strategic sense to set your strategic goals before committing to another 5-year funding cycle. However, I don’t want the delay in planning to hamper the work at the Centers. I encourage the Committee to monitor the situation and encourage the NICHD to ensure there is no lapse in funding.

Additionally, in the FY2019 Report, Congress directed the NICHD to ensure they consider proposals for the Centers that allow for basic science, translational research, and clinical trials. Basic science is an important component, but we also need to move forward with translating the science to treatments and a cure. Because the NICHD hasn’t funded the Centers for FY2020-2025, we ask that the Committee include similar language for FY2020.

Centers for Disease Control

The National Center for Birth Defects and Developmental Disorders is another important partner in Fragile X research and awareness. They provide the funding for the FORWARD (Fragile X Online Registry with Accessible Research Database) program. FORWARD collects important follow-up information from those enrolled in their longitudinal database. It captures the natural history of FXS across the human life span and characterizes the impact of interventions and/or treatments. This propels us to reach more positive health outcomes and improved quality of life for those with FXS.

FORWARD also facilitates FXS research by connecting interested researchers to Fragile X clinics. In so doing, the researcher might find potential patient matches for their particular study. This service is not only expeditious for the researcher, but can also help clinics and participants become aware of available FXS studies. This benefits both researchers and the patient community.

Once again, the President’s Budget not only dramatically reduces funding for the NCBDDD, but does not fund the Fragile X program, or any of the other specific programs. I ask the Committee to, once again, support the $2 million in annual funding for Fragile X programs at the CDC.

Additionally, in FY2019, the Committee included report language directing the CDC to explore pilot programs like Early Check in North Carolina that utilize the same newborn screening blood draw to voluntarily screen for disorders not on the newborn screening panel, such as Fragile X. The Early Check program in North Carolina (earlycheck.org) launched in late 2018 and is showing promise as a program that could be implemented in other states or nationally to help parents diagnose Fragile X syndrome early, for earlier interventions, and to diagnose undiagnosed Fragile X-related disorders in family members who also carry the gene mutation. I ask the Committee to, once again, include report language directing the NCBDDD to explore this type of screening program for Fragile X.

I thank you for your time.