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Sent: Friday, October 26, 2012 11:11
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Subject: NIH ESTABLISHES DOWN SYNDROME PATIENT REGISTRY

U.S. Department of Health and Human Services NATIONAL INSTITUTES OF HEALTH
NIH News Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD) <http://www.nichd.nih.gov/> For Immediate Release:
Friday, October 26, 2012

CONTACT: Robert Bock or Marianne Glass Miller, 301-496-5133,
<e-mail:[log in to unmask]>

NIH ESTABLISHES DOWN SYNDROME PATIENT REGISTRY Registry connects individuals
with Down syndrome with researchers

A new Down syndrome patient registry will facilitate contacts and
information sharing among families, patients, researchers and parent groups.
The National Institutes of Health has awarded a contract to
PatientCrossroads to operate the registry. The company has created
patient-centric registries for muscular dystrophy and many rare disorders. 

People with Down syndrome or their family members will be able to enter
contact information and health history in an online, secure, confidential
database.  Registry participants will be able to customize their profile,
update it online, and choose which information they would like to display,
including reminders about their own medical care and general information
about Down syndrome.  They also will be able to compare their own medical
information to that of other registrants in a confidential and anonymous
manner.  

If a participant gives permission to be contacted, clinicians and
researchers who are authorized to access the database will be able to
contact these individuals to see if they are interested in participating in
a research study. 

Ultimately, the registry will be able to link to biorepositories of tissue
samples and other resources, with the goal of making it easier for patients
to take part in clinical studies for new medications and other treatments
for Down syndrome.

The contract, which will support the creation of the registry through
September 2013, received $300,000 in funding for its first year.

"The new registry provides an important resource to individuals with Down
syndrome and their families," said Yvonne T. Maddox, deputy director of the
NIH's Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD), which is funding the registry.  "The registry links
those seeking volunteers for their research studies with those who most
stand to benefit from the research."

Down syndrome <http://health.nih.gov/topic/DownSyndrome> most frequently
results from an extra copy of chromosome 21 in the body's cells.  Infants
with Down syndrome are likely to have certain physical characteristics, such
as short stature and distinctive facial features, as well as health
conditions like hearing loss, heart malformations, digestive problems, and
vision disorders.  Although Down syndrome most commonly results in mild to
moderate intellectual disability, the condition occasionally involves severe
intellectual disability.  In addition, some individuals with Down syndrome
age prematurely and may experience dementia, memory loss, or impaired
judgment similar to that experienced by individuals with Alzheimer disease. 

"Down syndrome is complex," Dr. Maddox said.  "A wide array of scientific
expertise is required to address all its aspects in a comprehensive manner."

Development of a patient registry was a leading recommendation in the 2007
NIH Down Syndrome Research Plan
<http://www.nichd.nih.gov/news/releases/down_syndrome_research_012208.cfm>,
which sets goals and objectives for the Down syndrome research field.
Together with the Global Down Syndrome Foundation, the NICHD sponsored the
Down syndrome National Conference on Patient Registries, Research Databases,
and Biobanks <http://www.ncbi.nlm.nih.gov/pubmed/21835664) to solicit the
advice of a number of experts from the advocacy community, federal agencies,
industry, and the clinical and research communities on how best to establish
a Down syndrome registry.

The plan for the registry was supported by the public-private Down Syndrome
Consortium
<http://www.nichd.nih.gov/news/releases/092911-down-syndrome-consortium.cfm>
, which was established by the NIH in 2011 to foster the exchange of
information on Down syndrome research, and to implement and update the
Research Plan.  Membership on the Consortium includes individuals with Down
syndrome and family members, representatives from prominent Down syndrome
and pediatric organizations, and members of the NIH Down Syndrome Working
group, an internal NIH group that coordinates NIH-supported Down syndrome
research. 

"We're grateful to those who provided us with the advice that allowed us to
establish a national registry," Dr. Maddox said.  "We are happy that this
important step in furthering research on Down syndrome has been accomplished
and hope that many families will take advantage of the opportunity to sign
up as soon as the registry goes online."  

About the Eunice Kennedy Shriver National Institute of Child Health and
Human Development (NICHD): The NICHD sponsors research on development,
before and after birth; maternal, child, and family health; reproductive
biology and population issues; intellectual and developmental disabilities;
and medical rehabilitation. For more information, visit the Institute's
website at <http://www.nichd.nih.gov/>.  

About the National Institutes of Health (NIH): NIH, the nation's medical
research agency, includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. NIH is the primary federal
agency conducting and supporting basic, clinical, and translational medical
research, and is investigating the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and its programs,
visit <www.nih.gov>.

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This NIH News Release is available online at:
<http://www.nih.gov/news/health/oct2012/nichd-26.htm>.

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