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.
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.
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.
PDF Version | Contents | Feature
Articles | In the News | Events and Meetings | Research and Resources
All Issues | FYI Index | NHLBI Express
|