NIH Expansion of Rare Diseases Clinical Research Network to Include Kennedy Krieger Institute

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October 08, 2009
Sturge-Weber syndrome researchers at Kennedy Krieger to take part in one of nineteen consortia

Baltimore, MD-The National Institutes of Health announced this week funding for 19 research consortia as part of an expansion of the Rare Diseases Clinical Research Network (RDCRN), including a Brain Vascular Malformation Consortium. Dr. Anne Comi and her colleagues in the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute have been funded to contribute to this consortium, which will be led by Dr. William Young at the University of California, San Francisco.

As a co-primary investigator on the project to study Sturge-Weber syndrome, Dr. Comi will help guide the consortium's efforts to create a national database of patients with Sturge-Weber syndrome (SWS); study urine angiogenesis markers as biomarkers to predict neurologic outcome in SWS; and use DNA arrays to search for the hypothesized somatic mutation causing SWS.

The Brain Vascular Malformation Consortium will bring together researchers and clinicians from the University of California, San Francisco; Kennedy Krieger Institute; Emory University; Barrow Neurological Institute; Wayne State University; Laser and Skin Surgery Center; Nationwide Children's Hospital; Baylor College of Medicine; Duke University; and Boston Children's Hospital. The consortium will receive their funding and scientific oversight from the NIH Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke.

This effort will create new research partnerships and resources for SWS, as well as for other vascular malformations such as cerebral cavernous malformation progress and hereditary hemorrhagic telangiectasia.

"We are honored to be a part of this national effort to organize and advance Sturge-Weber syndrome research," said Dr. Anne Comi, Director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. "We are grateful that over the past years private foundations, donors and fundraisers made it possible for us to provide pilot data, clinical expertise and a proven research track record that helped make this national initiative fundable. This includes Bands on the Bay, Hunter's Dream for a Cure, Tropical Realty Charity Golf Tournament, Sturge-Weber Golf Classic, the Sturge-Weber Foundation, Vascular Birthmarks Foundation, and the Sturge-Weber Syndrome Community."

A rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. Approximately 6,500 such disorders have been identified, affecting an estimated 25 million Americans. Sturge-Weber syndrome is believed to affect between 1 in 20,000 to 1 in 50,000 live births.

Since its creation, the RDCRN has enrolled over 5,000 patients in 37 clinical studies in rare diseases. Patient recruitment for clinical studies is a fundamental challenge in rare diseases research because there are typically so few affected patients in any one area. The RDCRN was designed to address this problem by fostering collaboration among scientists and shared access to geographically distributed research resources.

The direct involvement of patient advocacy groups in network operations, activities, and strategy is a major feature of the RDCRN. Each consortium in the network includes relevant patient advocacy groups in the consortium membership and activities. The patient advocacy groups taking part in the Brain Vascular Research Consortium include the Angioma Alliance, Sturge-Weber Foundation and HHT Foundation International.

The RDCRN's central public Web site, developed as a portal for the rare diseases community, including patients and their families and health care professionals, provides information on rare disease research, consortium activities, RDCRN-approved protocols, disease information, and practice guidelines. Located at, the Web site had over 3.4 million visits in 2008. The RDCRN also developed a unique voluntary patient registry that provides ongoing contact with approximately 5,000 individuals from over 60 countries representing 42 diseases, alerting them when new studies are opened in the network or when ongoing studies expand to new sites.

About Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is the association of a facial port-wine birthmark with abnormal vessels on the surface of the brain, glaucoma, or both. Some people have an isolated intracranial variant, meaning abnormal brain blood vessels with no skin or eye symptoms. It can affect one side (in about 85%) or both sides (in about 15%) of the body or brain. The presence of a port-wine birthmark involving the forehead or upper eyelid raises the suspicion of SWS. These infants and children must be followed closely for other medical issues, including vision problems, epilepsy, and developmental delays. Though the cause of SWS is unknown, treatments are available for many of the complications of the disease. More research is needed to understand the causes of SWS, how to treat it, and how to prevent the medical and developmental problems resulting from it.

For more information on the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute, visit

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 13,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit

Media Contact:

Elise Welker

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