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Assessment of the information sources and interest in research collaboration among individuals with Vascular Ehlers-Danlos Syndrome

Published on Jan 1, 2020in Annals of Vascular Surgery1.179
· DOI :10.1016/j.avsg.2019.06.010
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington),
Liz Sage1
Estimated H-index: 1
(UW: University of Washington)
+ 6 AuthorsVascular Ehlers-Danlos Syndrome Collaborative
Abstract
Abstract Objective Patient centered research requires active engagement of patients. The Vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to ascertain patient-centered vEDS research priorities and to engage affected individuals as research partners. Evaluation of access to information and interest in research among individuals with vEDS was the first step undertaken as part of this work. Methods A 28 question survey was created to evaluate four domains of interest: Diagnostic and clinical care history, vEDS experience, information resources, and willingness to collaborate with researchers. The survey was created in REDCapTM and disseminated between January and April 2018 via the vEDS social media pages, blogs, and advocacy websites. Results were collated and described. A single open-ended question yielded additional narrative data, which were analyzed qualitatively. Results Of the 300 responses, 228 (76%) were completed on behalf of oneself. The vEDS diagnosis was confirmed by genetic testing for 85% of respondents. When asked “Did a physician explain vEDS to you and how to manage it?” 25% answered “No”. Most had a primary care provider (PCP) (65%), a cardiologist (56%), and a vascular surgeon (52%). Only 32% had a local vascular surgeon. The most commonly reported frustration was “No cure/treatment available” and the “Emergency rooms do not know what VEDS is” (64.5% and 61.8% respectively). The Internet was the most useful information source (62.3%) followed by a geneticist (18.4%). Most (87.7%) are willing to share their medical records for research studies (87.7%) and wished to be contacted about future studies (83.8%), however, only 65.4% would be willing to upload medical records via a secure confidential web application. The most common reason for interest in research partnership was to advance research for a treatment/cure (83.8%) and helping others learn from their experiences (82.9%). The qualitative analysis provided additional insights into the patient experience living with vEDS. Conclusions Among individuals with vEDS there is substantial frustration with the lack of treatment, lack of knowledge among health care providers, and a high degree of interest in research involvement. The survey highlights an opportunity to discuss the optimal modality for research participation and methodologies for building trust in the research teams. The methodology lessons learned can also be applied to other rare vascular diseases.
  • References (12)
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References12
Newest
#1James K. Stoller (Cleveland Clinic)H-Index: 51
Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults. Challenges posed to affected individuals and their families largely regard being diagnosed, receiving optimal care, and affording disease-specific medications. Challenges facing...
5 CitationsSource
#1Fransiska Malfait (Ghent University Hospital)H-Index: 35
#2Clair Ann Francomano (Johns Hopkins University)H-Index: 49
Last. Brad T. Tinkle (Boston Children's Hospital)H-Index: 15
view all 45 authors...
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying ...
219 CitationsSource
#1Peter H. Byers (UW: University of Washington)H-Index: 70
#2John W. BelmontH-Index: 65
Last. Nigel WheeldonH-Index: 20
view all 11 authors...
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000–1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and r...
43 CitationsSource
Background: Patient portals (ie, electronic personal health records tethered to institutional electronic health records) are recognized as a promising mechanism to support greater patient engagement, yet questions remain about how health care leaders, policy makers, and designers can encourage adoption of patient portals and what factors might contribute to sustained utilization. Objective: The purposes of this state of the science review are to (1) present the definition, background, and how cu...
202 CitationsSource
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2James Hamilton Black (Johns Hopkins University)H-Index: 27
Last. Nazli B. McDonnell (NIH: National Institutes of Health)H-Index: 16
view all 8 authors...
Objective The management of arterial pathology in individuals with vascular Ehlers-Danlos syndrome (vEDS) remains a challenge. Here we describe the correlation between COL3A1 gene mutation type and the clinical phenotype in individuals with vEDS. Methods Individuals with confirmed molecular diagnoses of vEDS were enrolled in a multi-institutional natural history study. Data collected included demographics, clinical and family histories, arterial pathology (aneurysm, dissection, and rupture), ope...
37 CitationsSource
#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Ulrike Schwarze (UW: University of Washington)H-Index: 30
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
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Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
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#1Adam Wright (Partners HealthCare)H-Index: 37
#2Joshua Feblowitz (Partners HealthCare)H-Index: 12
Last. Dean F. Sittig (University of Texas at Austin)H-Index: 55
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The Health Information Technology for Economic and Clinical Health Act, a component of the 2009 American Recovery and Reinvestment Act, establishes incentive programs to encourage the adoption of electronic health records (EHRs) by Medicare and Medicaid providers (Steinbrook 2009; Blumenthal and Tavenner 2010; Marcotte et al. 2012). These dual incentive programs will provide up to $27 billion in incentive payments over the next 10 years to eligible providers (EPs) (Blumenthal and Tavenner 2010)....
44 CitationsSource
#1Dru F. Leistritz (UW: University of Washington)H-Index: 10
#2Melanie G. Pepin (UW: University of Washington)H-Index: 23
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
view all 4 authors...
Purpose: To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos syndrome type IV, the vascular type. Methods: We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed the clinical and family histories and medical complications in 54 individuals from these families with COL3A1 null mutations. Results: Compared with individuals with missense or exon-skipping mutati...
60 CitationsSource
The personal health record (PHR) allows individuals to keep track of their health care information in one location. Maintaining a PHR encourages increased personal participation in healthcare and fosters a greater emphasis on communication between the individual and the caregivers.The creation of a
56 CitationsSource
#1Hsiu-Fang Hsieh (FYU: Fooyin University)H-Index: 7
#2Sarah E. Shannon (UW: University of Washington)H-Index: 29
Content analysis is a widely used qualitative research technique. Rather than being a single method, current applications of content analysis show three distinct approaches: conventional, directed, or summative. All three approaches are used to interpret meaning from the content of text data and, hence, adhere to the naturalistic paradigm. The major differences among the approaches are coding schemes, origins of codes, and threats to trustworthiness. In conventional content analysis, coding cate...
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Cited By0
Newest
#1Liz SageH-Index: 1
#2Melissa L. RussoH-Index: 3
Last. Sherene ShalhubH-Index: 13
view all 8 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement. Methods The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researche...
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