Press Releases for 1994

NATIONAL INSTITUTES OF HEALTH National Institute of Arthritis and Musculoskeletal and Skin Diseases
For immediate Release
November 1994
Contact: Elia Ben-Arii
Office of Scientific and
Health Communications
(301) 496-8188

NIAMS Establishes New Patient Registries for Rare Diseases

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) recently awarded contracts to five institutions to establish patient registries that will greatly facilitate research on several rare diseases by compiling information on affected individuals and families. Research on rare diseases is often hampered by difficulty in finding enough patients with a particular disorder.

"These registries will serve as extremely valuable national resources for research on sometimes devastating rheumatic and skin diseases," said Dr. Michael D. Lockshin, Acting Director of the NIAMS. "By providing a central source of medical information, the registries will accelerate basic and epidemiologic research on rare diseases such as juvenile rheumatoid arthritis and neonatal lupus," he said. The registries will also serve as a source of patients for clinical studies on new methods for treatment and prevention. The NIAMS will work with the organizers of each registry to promote the registry's use as a national resource for research.

The five new research registries are: National Registry for Ichthyosis and Related Disorders, with Dr. Philip Fleckman as principal investigator, at the University of Washington in Seattle; Research Registry for Juvenile Rheumatoid Arthritis, led by Dr. Edward H. Gianinni at Children's Hospital Medical Center, Cincinnati, Ohio; New Onset Juvenile Dermatomyositis Registry, with principal investigator Dr. Lauren M. Pachman, at Children's Memorial Hospital, Chicago, Illinois; Research Registry for Neonatal Lupus, led by Dr. Jill P. Buyon at the Hospital for Joint Diseases in New York City; and The Scleroderma Registry, with principal investigator Dr. Maureen D. Mayes, at Wayne State University in Detroit, Michigan.

The ichthyoses and related disorders of keratinization are a group of more than 20 inherited diseases generally characterized by persistent and often severe scaling of the skin on part or all of the body. Thickening or blistering of the outer layer of skin may also occur in some cases. Research has shown that some of these keratinization disorders, including several forms of ichthyosis, are due to specific genetic defects that result in abnormalities in major structural proteins of the outer layer of skin.

At the University of Washington in Seattle, Dr. Philip Fleckman and his colleagues will establish a registry of people in the United States who have ichthyosis and related disorders of keratinization. They will identify and classify cases, inform the research community of the existence of the registry, and help identify patients enrolled in the registry who are appropriate for and willing to participate in specific scientific studies. A centralized database that can provide clinical information and access to patients suffering from these disorders will help researchers find the genetic causes of additional forms of these disorders and lead to improvements in diagnosis, prevention, and treatment.

Dr. Edward H. Gianinni and his colleagues at Children's Hospital Medical Center in Cincinnati will develop and maintain a research registry for juvenile rheumatoid arthritis (JRA), with a focus on families in which two or more siblings are affected. JRA, one of numerous rheumatic diseases that afflict children, is a chronic arthritis that may cause pain, stiffness, and limited motion in one or more joints, as well as inflammation in other parts of the body, such as the eyes. Systemic JRA may affect the internal organs. The causes of JRA are not yet clear, but researchers believe that genetic factors play a role in determining susceptibility.

The investigators in Cincinnati will promote use of the JRA registry as a national resource to facilitate research by providing adequate numbers of patients for study. The availability for study of families in which two or more siblings have JRA will be valuable for epidemiologic and genetic studies of this disease, particularly within the human genome project.

Juvenile dermatomyositis is a form of rheumatic disease that begins in childhood and causes a skin rash and profound weakness and inflammation of muscles throughout the body. After years, the damaged muscles may be permanently replaced by calcium deposits that can further limit motion. Although it is among the least common forms of autoimmune connective tissue diseases, juvenile dermatomyositis is the most common form of muscle disease in children under 15 years old.

Research is beginning to provide clues to the possible causes of juvenile dermatomyositis. Genetic (hereditary) factors are thought to predispose certain people to getting the disease, and most researchers believe that there are a number of triggering factors, possibly including viral infections. The research registry directed by Dr. Lauren M. Pachman at Children's Hospital in Chicago will serve to catalog new onset cases in children 16 years old and under. The registry's organizers will inform physicians likely to first identify new onset cases of the existence of the registry; recruit and enroll new cases of juvenile dermatomyositis in the registry, providing a resource for study by other investigators; and validate the diagnosis of each patient. In addition, Dr. Pachman and her colleagues will use the registry to determine whether there are associated specific symptoms of preceding illness in children who have new onset juvenile dermatomyositis; and the incidence of newly diagnosed disease in both minority and non-minority children and whether ethnicity affects the relative disease incidence in boys versus girls.

Neonatal lupus, a rare disorder of passively acquired autoimmunity, is a syndrome that affects some newborn babies of women with certain immune abnormalities. These women may have systemic lupus erythematosus, Sjögren's syndrome, or have no symptoms at all. Babies with neonatal lupus may have congenital heart block--a serious defect in heart function that can lead to the baby's death or permanent injury of heart tissues, often requiring lifelong use of a pacemaker. Other affected babies may have a skin rash, liver abnormalities, or low blood counts. Women at risk for giving birth to children with neonatal lupus can now be identified by detecting the presence of specific autoantibodies known as anti-Ro or anti-La in their blood, enabling doctors to take steps to treat heart block in their babies if it occurs.

Dr. Jill P. Buyon and her colleagues at the Hospital for Joint Diseases will establish a national registry for the study of neonatal lupus to answer questions about the origin and causes of heart abnormalities in the fetus, including why some newborns have only skin disease and other are totally healthy despite the presence of anti-Ro or anti-La antibodies in the mother. Registry organizers will inform the research community of the existence of the registry; provide information on the long-term outcomes of the mothers and their affected children; and modify, update, and expand the registry as new information about the disease and the individual patients becomes available.

Researchers at Wayne State University will establish a population-based registry for systemic sclerosis (scleroderma) in southeastern Michigan. Scleroderma is a potentially serious rheumatic disease involving the connective tissue and blood vessels, which may cause widespread hardness of the skin. The disease also affects internal tissues including the intestinal tract, muscles, joints, heart, lungs, and kidneys. Scleroderma is three times more common in women than in men. The greatest number of cases occur in people between the ages of 20 and 50.

Dr. Maureen D. Mayes will lead the effort to identify all cases of scleroderma in the southeastern Michigan population; verify all diagnoses; establish a computer database; provide a continuous update of the prevalence, incidence, and mortality rates of scleroderma in this population; and establish the average annual mortality due to this disease. A major focus of the registry will be to establish a group of new scleroderma cases for clinical studies of early interventions for the disease, as well as for basic science and other clinical and epidemiologic studies.

The National Institute of Arthritis and Musculoskeletal and Skin Diseases leads and coordinates the Federal biomedical research effort in rheumatic, skin, and musculoskeletal diseases by conducting and supporting research projects, research training, clinical trials, and epidemiologic studies, and by disseminating information on research efforts and results.


The following list includes a media contact telephone number for the principal investigator of each research registry, as well as the registry telephone numbers for physician and patient inquiries.

National Registry for Ichthyosis and Related Disorders:

    Philip H. Fleckman, M.D.
    University of Washington
    Seattle, Washington
    Media Contact: Laurie McHale (206) 543-3620
    Registry telephone number: (800) 595-1265

Research Registry for Juvenile Rheumatoid Arthritis:

    Edward H. Gianinni, M.Sc., Dr.P.H.
    Children's Hospital Medical Center
    Cincinnati, Ohio
    Media Contact: Jim Feuer (513) 559-4420
    Registry telephone number: (513) 559-7634 or (513) 559-4495

New Onset Juvenile Dermatomyositis Registry:

    Lauren M. Pachman, M.D.
    Children's Memorial Hospital
    Chicago, Illinois
    Media Contact: Robin Florzak (312) 880-4500
    Registry telephone number: (312) 880-3333

Research Registry for Neonatal Lupus:

    Jill P. Buyon, M.D.
    Hospital for Joint Diseases/Orthopaedic Institute
    New York, New York
    Media Contact: Peter Ferrara (212) 263-5488
    Registry telephone number: (212) 598-6283

The Scleroderma Registry:

    Maureen D. Mayes, M.D.
    Wayne State University Medical School/Hutzel Hospital
    Detroit, Michigan
    Media Contact: Pam Young (313) 745-7225
    Registry telephone number: (313) 966-7777 or (313) 577-1133