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Fragile X Once Again Visible in US Budget Plans

Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Fragile X.—The Committee is encouraged by the CDC’s progress in establishing a Fragile X public health program to expand surveillance and epidemiological research of Fragile X, as well as provide
patient and provider outreach on Fragile X and other developmental disabilities. The Committee has provided sufficient resources to continue these activities.

Health Resources and Services Administration
Bureau of Maternal and Child Health
The Committee again provides $2,000,000 within the SPRANS amount for the heritable disorders program authorized in title XXVI of the Children’s Health Act. This program is designed to strengthen States’ newborn screening programs and improve States’ ability to develop, evaluate, and acquire innovative testing technologies, and establish and improve programs to provide screening, counseling, testing and special services for newborns and children at risk for heritable disorders. The Committee urges HRSA to include additional conditions, such as biliary atresia, Fragile X, and abnormally elevated levels of bilirubin, in this evaluation of testing programs with the goal of implementing cost-effective public health screening programs for these and other disorders.
The Committee requests a report by July 15, 2006 on the steps taken to validate a screening tool for Fragile X and to launch a screening program across the country. Given the potential of
Fragile X screening as a viable prototype for newborn and infant screening, the Committee encourages HRSA to allocate funding from the heritable disorders screening program toward screening and epidemiological research activities related to Fragile X.

National Institutes of Health
NIDDK
Fragile X.—Fragile X mental retardation is a single-gene disorder that results from an unusual kind of mutation. Study of the chain of events set in motion by this mutation may lead to the identification of points in the process at which interventions may ameliorate symptoms. The Committee urges NIDDK to expand its research activities on Fragile X and to coordinate these efforts with other Institutes working on related activities, including NIMH and NICHD.

Fogarty Center
Fragile X.—The Committee encourages the Fogarty International Center to consider Fragile X syndrome through all appropriate programs, such as the Fogarty International Research Collaboration Award and the FIC Brain Disorders in the Developing World Program.

NINDS
Fragile X.—The Committee urges the NINDS to intensify its research into these issues as they relate to Fragile X, and to coordinate this research with other Institutes working on Fragile X, including
but not limited to NIMH and NICHD.
Fragile X-associated Tremor/Ataxia Syndrome [FXTAS].— FXTAS is a newly discovered, progressive neurological disorder that affects older men who are carriers of a premutation in the same gene that causes Fragile X syndrome. Identification of older male carriers will lead to a better understanding of the true incidence of Fragile X syndrome and afford at-risk families of child- bearing age the opportunity to pursue genetic counseling. NINDS, in collaboration with the National Institute on Aging, is urged to commit additional resources and expand research into FXTAS, including working with the other NIH institutes as well as the Centers
for Disease Control and Prevention in the development of genetic counseling protocols for families affected by both Fragile X and FXTAS.

NICHD
Fragile X.—Title II of the Children’s Health Act of 2000 authorized the establishment of at least three Fragile X research centers. The Committee is pleased that the NICHD has funded three Centers, and urges the NICHD to increase the funding for existing centers of excellence by the end of fiscal year 2006, with the goal of enhancing the Centers and recruiting new researchers to the Fragile X field. The Committee also encourages the NICHD to coordinate its Fragile X research efforts internally, by partnering with others, and by relating Fragile X research with that in other developmental disorders, such as autism research.

NIMH
Fragile X.—Fragile X is the most common single-gene neuropsychiatric disease known. It causes cognitive impairment, mental disorders such as obsessive-compulsive disorder, and extreme anxiety. The Committee commends NIMH for spearheading three focused research meetings devoted to identifying critical research needs, in November 2001, January 2003, and July 2004. The Committee urges NIMH to pursue the most critical needs identified by the meeting panels. These include controlled studies of existing and new pharmacological treatments for Fragile X and identification of the key molecular targets which are likely candidates for designing drug treatments for Fragile X and related disorders such as autism. The Committee also urges NIMH to include Fragile X in its studies of related neuropsychiatric disorders and to work with other Institutes such as NICHD and NINDS to develop cooperative research support mechanisms in this area. In addition, the Committee urges the NIMH to work with industry and academia to test available medications and bring new treatments to market.

Office of the Director
Fragile X.—The Committee notes the impressive progress made by Fragile X researchers in understanding the basic neural defects that cause this developmental disorder. NIH Institutes, units, and its National Center for Research Resources provided 75 grants in fiscal year 2004 to find a treatment and cure for Fragile X. The success of these translational research efforts has made treatment of Fragile X a near-term possibility. However, further efforts are required to translate these basic science findings into viable treatments. Specifically, collaborative efforts between industry, academia and NIH Institutes are likely to be necessary to develop promising therapeutic options for this orphan indication. The Committee further notes that while Fragile X is a relatively common genetic disease, the treatments being developed for Fragile X may also be effective for a much larger number of people with related autism spectrum disorders. Research has shown many possible treatment strategies which merit human Fragile X clinical trials, including—but not limited to—mGluR5 antagonists, Ampakines, aripiprazole, and lithium. The Committee strongly urges the Director to facilitate and fund public/private partnerships which will enable these vital studies to proceed. In addition, privately-funded Fragile X research is rapidly expanding, often in partnership with NIH grants. The Committee commends the growing breadth and diversity of this research but strongly urges the Director to establish a coordinating mechanism to direct and coordinate these efforts in regularly-scheduled meetings. To achieve this mandate, the
NIH is urged to convene a yearly workshop with the research community to develop priorities for basic, clinical and translational research as they relate to Fragile X. The Committee also encourages the Director to increase the number and size of institutional training grants to institutions supporting pediatric training and the number of grants for career development clinical research as they relate to Fragile X.