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NIH's ORDR-NCATS RDCRN & NICHD awards U54 cooperative agreement for natural history study
Date:10/28/2014

National Institute of Health (NIH) announced awards to expand the Office of Rare Diseases Research part of the National Center for Advancing Translational Sciences (ORDR-NCATS) collaborative Rare Diseases Clinical Research Network (RDCRN). Through the network, physician scientists at 22 consortia will work with 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible by $29 million in fiscal 2014 funding from NIH.

Rett syndrome, MECP2 Duplications and Rett-related disorders represent one of the 22 consortia funded by the U54 cooperative agreement award with the National Institute of Child Health and Human Development (NICHD). Led by Alan K. Percy, M.D., University of Alabama at Birmingham, this project involves clinical research into four disorders of the nervous system: Rett syndrome (RTT), MECP2 Duplication disorder, CDKL5 disorder, and FOXG1 syndrome. These conditions strike previously healthy-seeming children — usually girls for RTT and boys for MECP2 Duplication disorder — early in their lives and can lead to seizures, difficulty with fine motor control and walking, and intellectual disability.

The research center's work takes the form of a natural history study with three major goals over the next 5 years, at $1.25m per year:

  • Identify and understand the core clinical features of each disorder;

  • Identify factors that can modify the severity of the disorders; and

  • Understand the relationship between patients' symptoms and their brain imaging and electroencephalography alterations.

This award will investigate longitudinal natural history and neurobehavorial assessments, biomarkers, outcome measures, and neurophysiological and neuroimaging correlates of disease severity in Rett syndrome, MECP2 Duplication disorder, CDKL5 disorder, and FOXG1 syndrome.

Under the leadership of Dr. Alan Percy, the study will involve:

Nine PARTICIPATING sites:

  • University of Alabama at Birmingham – Alan K. Percy, MD Baylor College of Medicine, Texas Children's Hospital – Daniel G. Glaze, MD
  • Harvard Medical School, Boston Children's Hospital - Walter E. Kaufmann, MD
  • Greenwood Genetics Center – Steven A. Skinner, MD
  • Children's Hospital of Pennsylvania - Eric D. Marsh, MD PhD
  • University of Rochester Medical Center – Alex R. Paciorkowski, MD, FACMG
  • University of Colorado Medical School, Denver – Timothy A. Benke, MD PhD
  • University of California, San Diego, Rady Children's Hospital – Jeffrey L. Neul, MD PhD
  • Vanderbilt University Medical Center – Sarika U. Peters, PhD

Two ENROLLING sites:

  • Rush University Medical Center – Peter T. Heydemann, MD
  • University of California San Francisco Benioff Oakland Children's Hospital – Mary Jones, MD

"Through this Natural History Study (NHS) we will transform Rett syndrome and the Rett-related disorders care initiatives by stimulating more clinical research that will help draft guidance on how to standardize and optimize the best care for the children and adults with these four disorders as soon as possible through building a collaborative clinical network." says Steven Kaminsky, PhD, Chief Science Officer, Rettsyndrome.org. Dr. Alan Percy adds, "The potential for developing effective clinical trials is now tangible with other disease-modifying agents rapidly coming to the clinics".

Janet Woodcock, M.D., Director of FDA's Center for Drug Evaluation and Research (CDER), writes in FDA Voice, the FDA's official blog: "The more we know about rare diseases, the more likely we are to find safe and effective treatments. If you add them all [7,000 rare diseases] together, there are about 30 million – or almost one in ten — people in the U.S. with some form of rare disease. Sadly, although great progress has been made in some areas, many of these people have no FDA approved drug to cure their condition, help them feel better, or even slow the disease's progress.

Well-conducted studies of natural history can yield vital information about:

  • Biomarkers, demographic, genetic, and environmental variables that correlate with the course and stages of the disease;

  • Identification of patient subpopulations with different characteristics and effects of the disease;

  • Patient perspectives on what aspects of disease are most important to treat; and,

  • How to quantify those aspects so that they can serve as useful outcome measures for clinical trials.

Knowledge of natural history is essential for developing more efficient clinical trial designs. It also could help reduce the length and cost of drug development and, possibly, contribute toward greater predictability of clinical development programs.

FDA is committed to working with patient advocates and other organizations to support natural history studies for rare diseases. We encourage the use of natural history data collection tools to describe natural history for many rare diseases. It is our deeply felt hope and wish that we can then take steps toward developing and approving new therapies for persons with rare diseases." (blog excerpt 10/23/2014)

Rettsyndrome.org will take a central role in this endeavor as a member of the Coalition of Patient Advocacy Groups (CPAGs) within the RDCRN, and as administrative partner of this 5-year cooperative agreement.


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Contact: Steven Kaminsky
skaminsky@rettsyndrome.org
301-514-4068
International Rett Syndrome Foundation

Source:Eurekalert  

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