We describe a data repository on the heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health’s National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, with clinical diagnoses updated in 2015, and unaffected family members. Elements include a comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures centered on overall health, pain, sleep and fatigue and an extensive linked biorepository. The NIA made a commitment to make the repository available to extramural investigators and deposited samples at the Coriell Tissue Repository (N=126) and GenTAC registry (N=132). The clinical dataset (“HDCT NIA Dataset v.2016”) was transferred to Penn State University College of Medicine Clinical and Translational Science Institute in 2016, and data elements and structure inventoried. The consented cohort of 1009 participants averaged 39 ± 18 years (mean ±SD, range 2-95) at consent; gender distribution is 71% F and 29% M, and 83% self-report Caucasian ethnicity. Diagnostic categories include Ehlers-Danlos Syndrome (Classical N=50, Hypermobile N=99, Vascular N=101, Rare Types and Unclassified N=178), Marfan Syndrome (N=33), Stickler Syndrome (N=60), Fibromuscular Dysplasia (N=135), Other HDCT (N=72). Unaffected family members (N=218) contributed DNA for the molecular archive only. We aim to develop further discrete data from unstructured elements, analyze multi-symptom HDCT manifestations, encourage data use by other researchers and thereby better understand the complexity of these high-morbidity conditions and their multifaceted effects on affected persons.
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