Winter 2004                                     CARES Foundation, Inc.
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CARES Foundation to Collaborate with Cornell on Clinical Research

 

On February 27, 2003, Office of Rare Diseases in response to the Rare Diseases Act of 2002, P.L. 107-280, released a Request for Aplications (RFA) for a Rare Diseases Clinical Research Network together with the National Center for Research Resources (NCRR)/General Clinical Research Centers (GCRC) Program and in collaboration with other NIH Institutes. On September 28, 2003, ORD, NCRR, and the National Institute of Child Health and Human Development (NICHD), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), all components of the NIH, funded seven Rare Diseases Clinical Research Centers and one Data and Technology Coordinating Center at a cost of $51 million over a five-year period. Cornell was chosen as one of the clinical research centers to study genetic steroid disorders, including CAH.

The purpose of the network is to facilitate clinical research in rare diseases through:

· Collaborative clinical research in rare diseases, including longitudinal studies of individuals with rare diseases, clinical studies, phase one and two research studies, and/or pilot and demonstration projects to respond to the very differing level of research and to facilitate research that is sorely needed;

· Training of clinical investigators in rare diseases research;

· Clinical data management that incorporates novel approaches and technologies for data management, data mining, and data sharing across rare diseases, data types, and platforms; and

· Access to information for basic and clinical researchers, academic and practicing physicians, patients, and the lay public across the U.S. and abroad. This cooperative program should facilitate many advances including the identification of biomarkers for disease risk, disease severity/activity, and clinical outcome and encourage development of new approaches to prevention, diagnosis, and treatment of many rare diseases beyond those being studied. The easy and free availability of data from the center should also spawn many new research ideas and subsequent applications to NIH Institutes and Centers.

Project Title: The Natural History of Rare Genetic Steroid Disorders
Principal Investigator/Project Director & Contact Information:New, Maria I, M.D.
Weill Medical College of Cornell University
1300 York Avenue, Box 103
New York, NY 10021
212-746-3450
Description from the Grant Application:
A consortium of investigators, institutions, and patient support groups will constitute a Rare Disease Clinical Research Network focused on a diverse group of disorders characterized by defects in steroidogenesis. We will study the longitudinal history of these rare disorders and determine the outcome of treatment on height, fertility and gender. Long-standing informal collaboration between investigators at Weill Medical College, Rockefeller University, Columbia University, the University of Texas Southwestern Medical Center, the University of Quebec, Hospital Debrosses (Lyons), and the Hospital das Clinicas da FMUSP (Sao Paulo) will facilitate the creation of a productive cooperative research network that draws on the extensive experience of each investigator. Clinical Research Centers at Weill, Rockefeller, and the University of Texas Southwestern Medical Center will participate. Each investigator in the consortium has followed a large group of patients with a specific genetic defect affecting steroid synthesis over many years, encompassing the natural history of these diseases from prenatal life to death. Creation of a storage and management database will constitute a scaffold for ongoing research, enabling the preservation and use of this large body of clinical data assembled by experts in each disorder. Moreover, design of templates for a standardized clinical description of these disorders will permit prospective studies which can offer open enrollment to affected individuals or individuals at risk. Our research group includes the investigators who have identified the molecular genetic defect for each disorder, where known, and who maintain laboratories dedicated to the identification of new mutations. The combination of clinical and molecular genetic information will raise the standard of medical care and may permit development of novel treatments based on detailed knowledge of the natural history and molecular genetic basis of these disorders. Important elements of our plan are to

1. Establish the clinical research network which pools data from our sites in cooperation with the DTCC and analyzes this data,

2. Educate young investigators in the management and clinical research of steroid disorders, and

3. Strengthen our connections with patient support groups to enable individuals affected or at risk to have new kinds of input and access to optimal medical care.

 

Performance Sites:
Weill Medical College of Cornell University at the New York Presbyterian Hospital, New York, NY
Rockefeller University, New York, NY
Laval University, Quèbec, Canada
University of Texas Southwestern Medical Center at Dallas, TX
Hospital Debrosses Lyon, France
Hospital das Clinicas da FMUSP, São Paulo, Brazil
Columbia University College of Physicians & Surgeons, New York State Psychiatric Institute, New York, NY

 

Patient Support Organization:
Congenital Adrenal hyperplasia Research, Education, & Support, CARES Foundation, Inc.

The Rare Diseases Clinical Research Network is funded by the Office of Rare Diseases, National Center for Research Resources, National Institute of Child Health and Human Development, National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, and National Institute of Diabetes and Digestive and Kidney Diseases, all components of NIH, an agency of the Department of Health and Human Services.

The creation of the network responds to the Rare Disease Act of 2002, which directed NIH to support "regional centers of excellence for clinical research into, training in, and demonstration of diagnostic, prevention, control, and treatment methods for rare diseases." The term "rare (or orphan) disease," as defined in the Orphan Drug Act, is a condition affecting fewer than 200,000 in the United States or a disease with a greater prevalence but for which no reasonable expectation exists that the costs of developing or distributing a drug can be recovered from the sale of the drug in the United States.

  
   

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