FYI from the NHLBI Index

December 2002: Vol. 3, Issue 3
Constituents' Corner


Leader of Public Interest Organization Participates in FDA Review of Medication for COPD

Molecular Genetics Enhances Usefulness of Established Registry and Leads to Improvements in Diagnosis and Treatment

EFFORTS to Expand Public Outreach Activities

This space is reserved for you, our readers, to share ideas and broadcast opinions. We invite you to submit your comments, thoughts, and suggestions via email or snail mail (Public Interest News, c/o Office of Science and Technology , Building 31, Room 5A03, 31 Center Drive, MSC-2482 Bethesda, MD 20892-2482). We also are considering the addition of a separate "Bulletin Board" where organizations can announce upcoming activities. For now, those announcements also can be sent to the above addresses.

Leader of Public Interest Organization Participates in FDA Review of Medication for COPD

On September 6, Dr. Wlodzimierz (Vlady) Rozenbaum, Moderator of COPD-ALERT, testified before the Pulmonary Allergy Drugs Advisory Committee of the U.S. Food and Drug Administration (FDA) about the drug Spiriva (tiotropium bromide), which has been studied as treatment for chronic obstructive pulmonary disease (COPD). In his testimony, he described the devastating consequences that COPD has for patients and families, as well as its substantial economic costs. He also described the limited treatment options currently available and shared his own experience as a person who has COPD. Dr. Rozenbaum was one of several speakers; representatives from the sponsor of Spiriva, Boehringer Ingelheim, presented data from multiple clinical trials, and other FDA scientists discussed some of the methods used in the studies.

COPD-ALERT is a support and advocacy group for COPD patients, caregivers, and medical professionals. Dr. Rozenbaum, who contributed this article, also manages a Web site containing information about COPD.
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Molecular Genetics Enhances Usefulness of Established Registry and Leads to Improvements in Diagnosis and Treatment

In the late 1970s, Drs. Arthur J. Moss from Rochester, New York, and Peter Schwartz from Pavia, Italy, established a registry for patients diagnosed with Long QT Syndrome (LQTS). As is the case with most diseases for which registries are developed, little was known about LQTS. The condition, which causes sudden cardiac death in young people, was known to be an inherited condition, but treatments were limited and diagnosis was often made only after the patient suffered a cardiac arrest.

In 1985, researchers received a grant from the NHLBI to expand the registry to include the families of patients and begin studies of LQTS genetics, natural history, and treatment options. The accumulation of clinical and electrocardiogram (ECG) data on both the first affected individual in a family and family members allowed researchers to make observations about disease similarities within and among families. Meanwhile, the field of molecular genetics was becoming more sophisticated, and researchers began to speculate that family differences may be associated with distinct genetic abnormalities.

Between 1991 and 2001, six LQTS genes and over 200 mutations were identified. When studying patients with mutations in one of three LQTS genes (lqts1, lqts2, and lqts3), researchers discovered that patients with mutations in lqts1 or lqts2 respond well to treatment with a class of drugs called beta-blockers. Pacemakers were found to be more useful in treating patients with mutations to lqts3. Discovery of the LQTS genes has had important diagnostic implications, too. Previously, LQTS could be detected only by the presence of a prolonged QT interval as measured by an ECG—a diagnostic approach that was not always accurate. Results of genetic studies help identify people who have LQTS with more certainty than ECGs alone, particularly in asymptomatic family members of patients diagnosed after an unexplained fainting episode (the most common presenting symptom other than cardiac arrest) or during a routine cardiac exam.

The foresight of researchers who launched the registry in 1979, combined with the participation of more than 1,100 enrolled families and the efforts of molecular geneticists who developed the genetic screening techniques, has opened possibilities for understanding LQTS. Much remains to be learned, but the detection of genetic mutations has already demonstrated that molecular understanding of LQTS holds promise for the development of even better diagnostic approaches and treatments.

To learn more about LQTS, contact the Cardiac Arrhythmias Research and Education (C.A.R.E.) Foundation, Inc., at 800-404-9500 or visit their Web site at www.longqt.org. Article submitted by: Kathy McInerney, Director of Development, C.A.R.E. Foundation.
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EFFORTS to Expand Public Outreach Activities

Volunteers from Emphysema Foundation for Our Right to Survive (EFFORTS) have developed a speakers bureau to connect with audiences wishing to learn what it is like to have COPD. Through their stories, speakers tell how they adjusted to living with COPD, learned to communicate with their doctors and families, and used proper nutrition and exercise to live as fully and productively as possible. Speakers who have received lung transplants also share their experiences with the preparation for and rehabilitation following transplant surgery.

Additional information about the EFFORTS speakers bureau and a list of speakers is available at www.emphysema.net/speakers2.html. Article submitted by: Gary Bain, President, EFFORTS.
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