[Congressional Record Volume 145, Number 77 (Wednesday, May 26, 1999)]
[Senate]
[Pages S6058-S6060]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]

      By Mr. EDWARDS (for himself and Mr. Hagel):
  S. 1131. A bill to promote research into, and the development of an 
ultimate cure for, the disease known as Fragile X; to the Committee on 
Health, Education, Labor, and Pensions.


              fragile x research breakthrough act of 1999

  Mr. EDWARDS. Mr. President, I rise today with my colleague, Senator 
Hagel, to introduce the Fragile X Research Breakthrough Act of 1999.
  Most of my colleagues have probably never heard of Fragile X. But it 
is the leading known cause of mental retardation. And the measure we 
introduce today could help put us on the path to treat and ultimately, 
we hope, cure the disorder. This measure will launch a concerted and 
aggressive federal effort to deal with Fragile X.
  Fragile X--which is a genetic defect that results in mental 
retardation--was only recently discovered. Given its prevalence, it's 
surprising that it took us so long to discover this problem.
  One in 2,000 males and one in 4,000 females have the gene defect. One 
in every 260 women is a carrier. Current studies estimate that as many 
as 90,000 Americans suffer from Fragile X. Yet up to 80 to 90 percent 
of them are undiagnosed. It does not affect one racial or ethnic group 
more than another.
  Scientists have only known exactly what causes Fragile X since 1991. 
Fragile X occurs when a specific gene, which should hold a string of 
molecules that repeat six to fifty times, over-expands. It causes the 
gene to hold anywhere from 200 to 1,000 copies of the same sequence, 
repeating over and over, much like a record skipping out of control. 
The result of this error is that instructions needed for the creation 
of a specific protein in the brain are lost. Consequently, the Fragile 
X protein is either low or absent in the affected person. The lower the 
level of the protein, the more severe the resulting disabilities.

  People with Fragile X have effects ranging from mild learning 
disabilities to severe mental retardation. Behavioral problems 
associated with Fragile X include aggression, anxiety, and seizures. 
The effects on both the victims of the disorder and their families are 
profound, taking a huge emotional and financial toll. People with 
Fragile X have a normal life expectancy but usually incur special costs 
that add up to over $2 million on average over their lifetime. Because 
it is inherited, many families have more than one child with Fragile X.
  But although Fragile X is now known in the scientific community, it 
is still neither widely studied by scientists nor known by the public 
at large.
  That's shocking, considering its devastating effect. Let me give you 
an example. In 1989 Katie Clapp gave birth to her first child, Andy. 
She and her husband, Dr. Michael Tranfaglia were thrilled. There were 
some concerns initially because Andy was missing one kidney and had 
some other medical problems. But they were quickly remedied, and 
Michael knew from his training as a medical doctor that Andy could do 
fine with one kidney. Testing did not reveal any other problems, so the 
couple breathed easy.
  But soon Andy started showing other signs of problems. He had 
difficulty feeding and was inconsolable except when held by his mother. 
He was not as responsive as other children his age, except to scream 
when put down. Over the first year of life, he began to miss 
achievement milestones, such as sitting up and walking. Michael was in 
his residency training at the University of North Carolina hospital, so 
a

[[Page S6059]]

wealth of medical resources were within his reach. Andy was seen by 
neurologists and geneticists, but there were no answers.
  When Andy was two years old, Katie became pregnant with a second 
child. She wanted to be sure that her next baby would be born free of 
Andy's problems. So Andy was tested some more for genetics 
abnormalities, but nothing showed up. Yet Andy's problems were becoming 
more and more apparent, and causing greater difficulties for the 
family.
  Finally, when he was three and a half years old, Andy went to a new 
physician, a developmental pediatrician. During the initial visit with 
the doctor, Michael and Katie got their first indication that there 
might be a name for the problem they had been living with. The doctor 
suggested that Andy be tested for something called Fragile X. The test 
was performed, and came back positive. Katie Clapp and Michael 
Tranfaglia soon learned that not only did Andy have this inherited 
genetic disorder, but that their baby daughter Laura was also 
afflicted.
  Recent advances in Fragile X research now make it possible to test 
definitively for the disorder through DNA analysis. Yet many doctors 
are still not familiar with Fragile X, and subtle symptoms in early 
childhood can make it difficult to detect.
  But there is good news. Because scientists have identified the 
missing protein that causes the disorder, there is hope for a cure. And 
because Fragile X is the only single-gene disease known to directly 
impact human intelligence, understanding the disease can give us 
insight into human intelligence and learning and into dealing with 
other single gene defects. Understanding Fragile X may also unlock some 
of the mysteries of autism, schizophrenia, and other neurological 
disorders. But we need to fund research efforts into this devastating 
disease.
  Mr. President, my proposal seeks to capitalize on the good news. It 
would:
  Expand and coordinate research into Fragile X under the direction of 
the National Institute of Child Health and Human Development--a 
division of the National Institutes of Health;
  Establish at least three Fragile X centers, which would receive 
grants for research and development aimed at improving the diagnosis 
and treatment of, and finding a cure for, Fragile X;
  Allow patients with Fragile X to participate in clinical trials;
  Coordinate activities and exchange of information between the centers 
for better understanding of the disorder, and
  Encourage wide scale research into Fragile X by allowing qualified 
health professionals who conduct research into the disorder to be 
repaid for principal and interest on educational loans under the 
National Health Service Corps Loan Repayment Program.
  Today, in our country, thousands of children have Fragile X, but 
their parent have never heard of the disease. These parents know 
something is wrong, but they cannot give the problem a name, and 
neither can any doctor they have consulted. Like Katie and Michael, 
they may know their child has a disability, but they do not know why. 
They do not know that if they have more children, those children may 
also be at risk. They do not know there are treatments for the problem.
  They do not know that someone is working on a cure.
  The same holds true for many adults in our society. They are living 
in group homes and in institutions around the country. They have been 
cared for during entire lifetimes by devoted family members. Yet they 
have never had a diagnosis beyond ``mental retardation.''
  This summer in North Carolina, we are hosting a very special 
gathering of very special people. The Special Olympics World games will 
begin with an opening ceremony in Raleigh on June 26th, and the Games 
will run through July 4th. Among the participants will be many athletes 
who have Fragile X. Some of them know it, but many others, along with 
their families, do not even know that their particular disorder has a 
name. And with a name comes knowledge, and with knowledge comes hope 
for a better future--even for a cure.
  The job of these extraordinary athletes this summer is to make the 
most of their abilities and to achieve personal goals and triumphs. Our 
role in the games is to support their efforts, and to cheer them on. 
But our responsibility does not end there. It is our responsibility to 
make the most of the knowledge we now have, to expand that knowledge, 
and to give these folks the best chance possible. I ask all of my 
colleagues to join me in supporting this important research. Thank you.
  Mr. President, I ask unanimous consent that a copy of the legislation 
be printed in the Record.
  There being no objection, the bill was ordered to be printed in the 
Record, as follows:

                                S. 1131

       Be it enacted by the Senate and House of Representatives of 
     the United States of America in Congress assembled,

     SECTION 1. SHORT TITLE.

       This Act may be cited as the ``Fragile X Research 
     Breakthrough Act of 1999''.

     SEC. 2. FINDINGS.

       Congress makes the following findings:
       (1) Fragile X is the most common inherited cause of mental 
     retardation. It affects 1 in every 2,000 boys and 1 in every 
     4,000 girls. One in 260 women is a carrier.
       (2) Most children with Fragile X require a lifetime of 
     special care at a cost of over $2,000,000 per child.
       (3) Relatively newly-discovered and relatively unknown, 
     even in the medical profession, Fragile X is caused by the 
     absence of a single protein that can be produced 
     synthetically but that cannot yet be effectively assimilated.
       (4) Fragile X research, both basic and applied, is vastly 
     underfunded in view of its prevalence, the potential for the 
     development of a cure, the established benefits of currently 
     available interventions, and the significance that Fragile X 
     research has for related disorders.
       (5) Fragile X is a powerful research model for other forms 
     of X-linked mental retardation, as well as neuropsychiatric 
     disorders, including autism, schizophrenia, mood disorders, 
     and pervasive developmental disorder. Individuals with 
     Fragile X are a homogeneous study population for advancing 
     understanding of these disorders.

     SEC. 3. NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN 
                   DEVELOPMENT; RESEARCH ON FRAGILE X.

       Subpart 7 of part C of title IV of the Public Health 
     Service Act (42 U.S.C. 285g et seq.) is amended by adding at 
     the end the following:

     ``SEC. 452E. FRAGILE X.

       ``(a) Expansion and Coordination of Research Activities.--
     The Director of the Institute, after consultation with the 
     advisory council for the Institute, shall expand, intensify, 
     and coordinate the activities of the Institute with respect 
     to research on the disease known as Fragile X.
       ``(b) Research Centers.--
       ``(1) In general.--The Director of the Institute, after 
     consultation with the advisory council for the Institute, 
     shall make grants to, or enter into contracts with, public or 
     nonprofit private entities for the development and operation 
     of centers to conduct research for the purposes of improving 
     the diagnosis and treatment of, and finding the cure for, 
     Fragile X.
       ``(2) Number of centers.--In carrying out paragraph (1), 
     the Director of the Institute shall, to the extent that 
     amounts are appropriated, provide for the establishment of at 
     least 3 Fragile X research centers.
       ``(3) Activities.--
       ``(A) In general.--Each center assisted under paragraph (1) 
     shall, with respect to Fragile X--
       ``(i) conduct basic and clinical research, which may 
     include clinical trials of--

       ``(I) new or improved diagnostic methods; and
       ``(II) drugs or other treatment approaches; and

       ``(ii) conduct research to find a cure.
       ``(B) Fees.--A center may use funds provided under 
     paragraph (1) to provide fees to individuals serving as 
     subjects in clinical trials conducted under subparagraph (A).
       ``(4) Coordination among centers.--The Director of the 
     Institute shall, as appropriate, provide for the coordination 
     of the activities of the centers assisted under this section, 
     including providing for the exchange of information among the 
     centers.
       ``(5) Certain administrative requirements.--Each center 
     assisted under paragraph (1) shall use the facilities of a 
     single institution, or be formed from a consortium of 
     cooperating institutions, meeting such requirements as may be 
     prescribed by the Director of the Institute.
       ``(6) Duration of support.--Support may be provided to a 
     center under paragraph (1) for a period of not to exceed 5 
     years. Such period may be extended for 1 or more additional 
     periods, each of which may not exceed 5 years, if the 
     operations of such center have been reviewed by an 
     appropriate technical and scientific peer review group 
     established by the Director and if such group has recommended 
     to the Director that such period be extended.
       ``(7) Authorization of appropriations.--For the purpose of 
     carrying out this subsection, there are authorized to be 
     appropriated $10,000,000 for fiscal year 2000, and such sums 
     as may be necessary for each subsequent fiscal year.''.

[[Page S6060]]

     SEC. 4. NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN 
                   DEVELOPMENT; LOAN REPAYMENT PROGRAM REGARDING 
                   RESEARCH ON FRAGILE X.

       Part G of title IV of the Public Health Service Act (42 
     U.S.C. 288 et seq.) is amended by inserting after section 
     487E the following:

     ``SEC. 487F. LOAN REPAYMENT PROGRAM REGARDING RESEARCH ON 
                   FRAGILE X.

       ``(a) In General.--The Secretary, in consultation with the 
     Director of the National Institute of Child Health and Human 
     Development, shall establish a program under which the 
     Federal Government enters into contracts with qualified 
     health professionals (including graduate students) who agree 
     to conduct research regarding Fragile X in consideration of 
     the Federal Government's agreement to repay, for each year of 
     such service, not more than $35,000 of the principal and 
     interest of the educational loans owed by such health 
     professionals.
       ``(b) Applicability of Certain Provisions.--With respect to 
     the National Health Service Corps Loan Repayment Program 
     established in subpart III of part D of title III, the 
     provisions of such subpart (including section 338B(g)(3)) 
     shall, except as inconsistent with subsection (a) of this 
     section, apply to the program established in such subsection 
     in the same manner and to the same extent as such provisions 
     apply to the National Health Service Corps Loan Repayment 
     Program established in such subpart.
       ``(c) Authorization of Appropriations.--For the purpose of 
     carrying out this section, there are authorized to be 
     appropriated $2,000,000 for fiscal year 2000, and such sums 
     as may be necessary for each subsequent fiscal year. Amounts 
     appropriated for a fiscal year under the preceding sentence 
     shall remain available until the expiration of the second 
     fiscal year beginning after the fiscal year for which the 
     amounts were appropriated.''.

  Mr. HAGEL. Mr. President, I rise this morning to join my colleague 
and friend, the distinguished junior Senator from North Carolina, 
Senator Edwards, in introducing the Fragile X Breakthrough Act of 1999.
  Although many of you may not have heard of Fragile X, it is the 
leading cause of inherited mental retardation. It affects tens of 
thousands of children in this country every year. Fragile X is caused 
by a defective gene that fails to product specific protein necessary 
for proper brain function. Those afflicted with this condition often 
suffer mild to severe mental retardation, anxiety, seizures, and a 
variety of learning disorders. Most children with Fragile X will 
require a lifetime of specialized care at a cost of over $2 million 
each.
  For those afflicted and their families--like John and Megan Massey 
from Scottsbluff, Nebraska, whose two sons Jack and Jacob suffer from 
this disease--it is a frustrating, life-crippling, and heart-wrenching 
condition. But there is hope. In 1991, medical researchers were able to 
identify the specific gene that fails to produce the necessary protein 
and is responsible for Fragile X. Since then, researchers have been 
able to develop a synthetic version of this protein, and are now 
working on a way to deliver it to the brain's flawed cells.
  Congress has an unprecedented opportunity to play a key role in 
solving the mystery of this disease, and encouraging the development of 
a treatment and eventual cure. The Fragile X Breakthrough Act is a 
practical, pro-active, and cost-effective vehicle by which Congress can 
accomplish these goals.
  The National Institute of Child and Human Development (NICHD) is 
required by law to establish research centers in order to conduct 
clinical and scientific research aimed at helping infants and children. 
In accordance with that charge, the Fragile X Breakthrough Act 
authorizes $10 million for the NICHD, to make grants or enter into 
contracts with public or private entities to develop and operate three 
Fragile X research centers. It also provides $2 million for a program 
that encourages physicians to conduct Fragile X research, by offering 
to repay a portion of their educational loans. These proposals closely 
follow the recommendations that emerged from an international 
scientific conference held by the NICHD and the Fragile X Foundation 
(FRAXA) in December of 1998.
  We are closing in on one of the principal genetic causes of mental 
retardation. Let's give the NICHD the authority and funding to 
accelerate Fragile X research, so that the final, critical 
breakthroughs can be made. Let's give these children the chance to lead 
normal, productive lives. If not for Jacob and Jack Massey, then for 
those children who will inevitably follow.
                                 ______