Studies of Heritable Disorders of Connective Tissue
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|ClinicalTrials.gov Identifier: NCT00270686|
Recruitment Status : Completed
First Posted : December 28, 2005
Last Update Posted : April 5, 2018
|First Submitted Date||December 27, 2005|
|First Posted Date||December 28, 2005|
|Last Update Posted Date||April 5, 2018|
|Study Start Date||January 21, 2003|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00270686 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Studies of Heritable Disorders of Connective Tissue|
|Official Title||Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue|
- Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for building tissues. The symptoms differ among disorders. Researchers want to study which genes may be responsible for different disorders. They will be performing a long-term (up to 10 years) study and a study that requires a single visit. These studies will look at how these disorders affect the body and what genes may cause these conditions.
- To perform one-time and long-term studies of people who have heritable disorders of connective tissue.
- Individuals at least 2 years of age who have or may have a heritable disorder of connective tissue.
Heritable disorders of connective tissue are a heterogenous group of genetic conditions caused by defects of extracellular matrix elements such as collagen, elastin, mucopolysaccharides or related biomolecules. The genetic cause of many connective tissue disorders has been elucidated, while others are yet to be discovered or further defined. While clinical diagnostic criteria have been established for several of the connective tissue syndromes, many share features that overlap the known descriptions of other connective tissue disorders. Therefore, further characterization and phenotype/genotype correlation is needed to adequately diagnose and find treatments for these yet-to-be genotyped disorders.
An aim of this work is the examination of the cardiovascular, musculoskeletal and neurological complications of heritable connective tissue disorders (HDCT) and the natural history of these complications. Through mutational analysis for genes known to cause the HDCT, as well as identification of new genes, we will assess the relationship between specific mutations and their associated disease phenotypes. Through the analysis of tissue specimens obtained from patients with HDCT, we will identify the biochemical pathways that lead to connective tissue fragility. We will continue to assess the severity, prevalence, and pattern of pain and related psychological and quality of life dimensions in HDCT.
The resulting understanding of genotype/phenotype correlations and biochemical pathways will enhance our understanding of connective tissue biology. This knowledge has the potential to lead to new treatments for not only patients with HDCT, but also for pathological conditions associated with the weakness of connective tissues in aging.
|Study Design||Time Perspective: Prospective|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Study Completion Date||January 2, 2015|
|Primary Completion Date||Not Provided|
|Ages||2 Years and older (Child, Adult, Older Adult)|
|Accepts Healthy Volunteers||Yes|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||999903330
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) )|
|Study Sponsor||National Institute on Aging (NIA)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||January 2, 2015|