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|Connective Tissue Disorders|
Information about a study on Heritable Connective Tissue Disorders (HCTD) Trial (2003-086)
|December 12, 2013|
The National Institute on Aging (NIA) at NIH on September 30, 2013, notified participants that it has stopped data collection for a study on the Clinical and Molecular Manifestation of Heritable Disorders of Connective Tissue (HCTD), protocol 2003-086. The action was taken following a decision of the Institute's Intramural Research Program that the major goals of the study had been achieved and to allow the Program to focus more specifically on studies of basic aging and age-related diseases, such as Alzheimer's disease.
The NIA is very grateful to the volunteers who participated in this study for their time and generous contributions. After a decade of data collection, we understand that participants and the Institute have developed a sense of community, and we very much want to be responsive to your questions about the status of the study, the maintenance and sharing of data and samples collected, and clinical care available in the community for these conditions. We assure you that data are being maintained and preserved and will be offered to qualified researchers for analyses.
To provide some background -- The research began in 2003 as an observational study to 1) characterize the cardiovascular, musculoskeletal and neurological complications of HCTD, 2) collect family history, clinical data and tissue samples, and 3) follow some participants over time, every 5-10 years, to describe the natural history of specific disorders in this category. These subgroups included Ehlers Danlos, Marfan, Stickler, and fibromuscular dysplasia (FMD).
The protocol was designed as a data collection effort. Tissue samples and clinical data were obtained to provide information and genetic material from people with specific subtypes of connective tissue diseases. The goal from analyzing these data was to identify biological pathways that might serve as targets for new treatments. Beginning in 2011, the study supplied samples and images from about 150 participants to the National Repository of Genetically-triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions, or GenTAC. Other data are archived at the Coriell Institute for Medical Research. These repositories house samples and data and make them available for further study by the research community.
Several individuals have contacted the NIH about the status of the data collected. Data collection is now ended, and follow-up will not resume. We want to make it clear to participants and to the community interested in this research, however, that the data and samples are being archived and will be maintained. When the NIA has completed organizing and processing data and samples, they will be made available to qualified researchers for analyses. The NIA is developing procedures to encourage and facilitate the use of the data, while maintaining the privacy of participants. More information will appear on the NIA website (website link, below) as progress is made to make the data available.
None of the data or samples has been destroyed. As is standard for such research projects, participants must be informed of their right to request that their data or samples be removed from a study. If, at any time, you wish to have your stored samples removed and destroyed, you may do so in writing by contacting the NIA Protocol Office, Medstar Harbor Hospital, 3001 S. Hanover Street, Baltimore, MD 21225. No data or samples will be deleted from the archive unless there is a specific participant request.
We understand that participants also may be concerned about ongoing clinical care. From the start, this study, as its consent forms stated, was not a treatment study. It was not designed to provide patient care or to direct care by participants' primary physicians, local geneticists, vascular surgeons and physicians, or experts in diseases of connective tissues. Results of tests with clinical value were provided to participants, which they could share with their doctors. We understand some previous participants may have ongoing questions about clinical care. Participants seeking resources and information are welcome to contact the NIA at 410-350-3922 or 410-350-3946 about clinics or recognized experts who focus on connective tissue disorders.
We thank those who participated in or supported this study over the years. Moving forward, we will work with the community and researchers to ensure that data are preserved and are accessible to qualified investigators, who can make the most of these valued contributions. Updates will be provided on the NIA website at http://www.grc.nia.nih.gov/studies/index.htm.
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