Advocacy & Research
Progress in CHD Research
ClinicalTrials.gov provides searchable information on Clinical Trials and Human Research Studies. Click here for the Trial List for a search on “Congenital Heart Disease."
January 26, 2010
The Food and Drug Administration approved the first heart valve that can be implanted without open heart surgery. Instead, a small cut is made in the patient’s leg and the valve is delivered through a catheter. The device manufacturer is Medtronic Inc. and the valve is called the Melody Transcatheter Pulmonary Valve. For many children and adults born with a malformed pulmonary valve, this means undergoing fewer open heart surgeries throughout their lives. Currently over 1100 patients around the world have had the Melody valve implanted. Melody is still being tested, though. The FDA approval requires Medtronic to complete two more studies to test long-term risks and benefits. Click here and here to learn more.
January 20, 2010
Office of Rare Disease Research Plans Comprehensive Patient Registry
While congenital heart defects taken all together are the nation’s #1 birth defect, CHD also encompasses over 35 individual lesions, some of which are individually quite rare.
That’s why last week ACHA President Amy Verstappen attended a workshop held by the National Institutes of Health’s Office of Rare Disease Research last week. The meeting was called “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data.” The focus of the event was to discuss the development of a registry that would draw from many smaller rare disease registries and facilitate research growth.
ACHA supports the development of systems that bring together information on ACHD care with the goal of helping to improve treatment and outcomes for patients. We thank the NIH for this important effort and for including the congenital heart patient community in the project’s development.
ACC Catheterization Registry in Development
December 23, 2009
At the 2009 American Heart Association Annual Scientific Sessions, the Alliance for Adult Research in Congenital Cardiology (AARCC) group presented the results from their first prospective, multicenter trial examining the high prevalence of chronic venous insufficiency in adults whom had undergone the Fontan operation in childhood. The study found that chronic venous insufficiency was experienced by 60% of the Fontan population compared with 32% of healthy controls. Leg symptoms were observed in over 50% of the Fontan population compared with 4% of controls. To learn more about the study, click here.
A population study on adults with congenital heart defects, undertaken by Dr. Michelle Gurvitz in 2006, has now been completed (original announcement below). Dr. Gurvitz presented the results in an abstract called “Adults With Congenital Heart Disease: Who is in Care at Specialized Centers?” at the 2009 American Heart Association Scientific Sessions. You can find the abstract online here.
CHD May be a Stem Cell Related Disease
According to a report published in Nature, and conducted by researchers at the Harvard Stem Cell Institute, master stem cells have been identified in the heart. The location of these cells may help explain the cause of congenital heart disease (CHD), since the cells were found in regions of the heart known as “hot spots” for CHD. This discovery opens doors for new ways of conducting research and treating heart tissue. Further information is available here.
Role of Genetics in Tetrology of Fallot (TOF)
Recently, genetic variations identified by researchers at Howard Hughes Medical Institute have narrowed the search for the cause of the most common form of “blue baby syndrome”. According to Christine Seidman, lead researcher, in a study of 114 patients with TOF, 11 segments of DNA in heart-related genes were present in too few or too many “copies”. These changes, known as “copy number variations”, may provide the answer to the cause of TOF. Complete results of the study were published in the July 13th edition of Nature Genetics.
May 22, 2006
ACHA is pleased to announce that ACHA Medical Advisory Board member Dr. Michelle Gurvitz has received Children’s Hospital and Regional Medical Center (Seattle, WA) funding to study the population characteristics in adults being seen at national ACHD clinics. This research will use billing information from all participating national ACHD clinics. It will use insurance coding to look at pooled demographic data such as age, diagnosis, and insurance status; no individual patient health records or patient identifiers will be used. It will address questions such as: What is the age and diagnostic profile of patients currently seen at ACHD clinics? Which complex ACHD patients are most likely to be seen at an ACHD clinic? Which are least likely? Are certain ages, diagnoses, and or populations over-or under-represented? This will be the first study in the United States to seek to obtain objective data on the provision of ACHD care to the complex congenital heart community. It is also the first time that ACHD clinics nationally have cooperated in joint research.