Dataset Information

Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry.

ABSTRACT:

Background

Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare diseases creates a unique need for cooperation and infrastructure to overcome challenges in translating basic research advances into clinical advances. Despite registry initiatives in SCD, the unavailability of descriptions of the selection process and copies of final data collection tools, coupled with incomplete representation of the SCD population hampers further research progress. This manuscript describes the SCDIC (Sickle Cell Disease Implementation Consortium) Registry development and makes the SCDIC Registry baseline and first follow-up data collection forms available for other SCD research efforts.

Results

Study data on 2400 enrolled patients across eight sites was stored and managed using Research Electronic Data Capture (REDCap). Standardized data collection instruments, recruitment and enrollment were refined through consensus of consortium sites. Data points included measures taken from a variety of validated sources (PHENX, PROMIS and others). Surveys were directly administered by research staff and longitudinal follow-up was coordinated through the DCC. Appended registry forms track medical records, event-related patient invalidation, pregnancy, lab reporting, cardiopulmonary and renal functions.

Conclusions

The SCDIC Registry strives to provide an accurate, updated characterization of the adult and adolescent SCD population as well as standardized, validated data collecting tools to guide evidence-based research and practice.

SUBMITTER: Glassberg JA

PROVIDER: S-EPMC7341606 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Publications

Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry.

Glassberg Jeffrey A JA Linton Elizabeth A EA Burson Katrina K Hendershot Tabitha T Telfair Joseph J Kanter Julie J Gordeuk Victor R VR King Allison A AA Melvin Cathy L CL Shah Nirmish N Hankins Jane S JS Epié Axel Yannick AY Richardson Lynne D LD

Orphanet journal of rare diseases 20200707 1

<h4>Background</h4>Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare diseases creates a unique need for cooperation and infrastructure to overcome challenges in translating basic research advances into clinical advances. Despite registry initiatives in SCD, the unavailability of descriptions of the selection process and copies of final data colle ...[more]

PMID: 32635939

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Project description:BackgroundHyperbaric oxygen (HBO2)-oxygen at pressures higher than atmospheric-is approved for 14 indications by the Undersea and Hyperbaric Medical Society. HBO2's main effect is to increase oxygen content in plasma and body tissues, which can counteract hypoxia or ischemia. Laboratory studies show that HBO2 has effects beyond relieving hypoxia (eg, promoting angiogenesis in irradiated tissue, anti-inflammatory effects, radiosensitization of tumors, hypoxia preconditioning, and fungal growth inhibition) and has potential to treat conditions such as inflammatory bowel disease and pyoderma gangrenosum. Lack of consistently collected outcome data on a large cohort of individuals receiving HBO2 therapy limits its use for both established and new indications. A course of therapy often involves 30-40 visits to a hyperbaric chamber, so the number of patients seen at any given center is constrained by chamber capacity. As a result, published HBO2 outcome data tend to be from small case series because few patients with a particular condition are treated at a given center. To solve this problem, a registry that collects and pools data systematically from multiple institutions has been established.ObjectiveThe aim of this study is to collect consistent outcome data across multiple hyperbaric centers to assess treatment effectiveness and establish a research consortium.MethodsA consortium of hyperbaric centers who have agreed to collect consistent outcome data on all patients seen has been assembled. Data are collected at each participating center using Research Electronic Data Capture (REDCap), a web-based, data collection system used frequently for research. Standard outcome measures have been defined for each condition, which are programmed into the REDCap data collection templates. Governance is through a consortium agreement that defines data security, data sharing, publications, liability, and other issues. Centers obtain Institutional Review Board (IRB) and ethics approval to participate, either from their own institutions or by relying on the IRB at the coordinating center at Dartmouth College. Dissemination will occur through a yearly report and by publications based on the data in the registry.ResultsEarly results from some common indications show significant pretreatment to posttreatment changes. Additional indications and outcome measures are being added using the procedures outlined in the consortium agreement.ConclusionsThe registry collects consistent outcome information for a therapy that needs further study and a stronger evidence base. It also overcomes the challenge of collecting data from an adequate number of patients for both established and emerging indications by combining data collection from multiple centers. The data entry requirements should be within the capabilities of existing staff at any given hyperbaric center. By using REDCap, the registry can be expanded to include detailed information on particular indications and long-term follow-up on selected patients without significantly increasing the basic data entry requirements. Through the registry, a network of enrolled hyperbaric centers has been established that provides the basis for a clinical trial network.International registered report identifier (irrid)DERR1-10.2196/18857.

Project description:Sickle cell disease (SCD) is the most common clinically significant hemoglobinopathy, characterized by painful episodes, anemia, high risk of infection, and other acute and chronic complications. In Africa, where the disease is most prevalent, large longitudinal data on patients and their outcomes are lacking. This article describes the experiences of the Kumasi Center for SCD at the Komfo Anokye Teaching Hospital (KCSCD-KATH), a Sickle Pan-African Research Consortium (SPARCO) site and a SickleInAfrica Consortium member, in establishing a SCD registry for the evaluation of the outcomes of patients. It also provides a report of a preliminary analysis of the data. The process of developing the registry database involved comprehensive review of the center's SCD patient medical records, incorporating data elements developed by the SickleInAfrica Consortium and obtaining ethical clearance from the local Institutional Review Board. From December 2017 to March 2020, 3,148 SCD patients were enrolled into the SCD registry. Enrollment was during the SCD outpatient clinic visits or through home visits. A significant proportion of the patients was from the newborn screening cohort (50.3%) and was males (52.9%). SCD-SS, SCD-SC, and Sβ +thalassemia were seen in 67.2, 32.5, and 0.3% patients, respectively. The majority of the patients were in a steady state at enrollment; however, some were enrolled after discharge for an acute illness admission. The top two clinical diagnoses for SCD-SS patients were sickle cell painful events and acute anemia secondary to hyperhemolysis with incidence rates of 141.86 per 10,000 person months of observation (PMO) and 32.74 per 10,000 PMO, respectively. In SCD-SC patients, the top two diagnoses were sickle cell painful events and avascular necrosis with incidence rates of 203.09 per 10,000 PMO and 21.19 per 10,000 PMO, respectively. The SPARCO Kumasi site has developed skills and infrastructure to design, manage, and analyze data in the SCD registry. The newborn screening program and alternative recruitment methods such as radio announcement and home visits for defaulting patients were the key steps taken in enrolling patients into the registry. The registry will provide longitudinal data that will help improve knowledge of SCD in Ghana and Africa through research.

Project description:Study questionWhat are the trends and developments in preimplantation genetic testing (PGT) in 2018 as compared to previous years?Summary answerThe main trends observed in this 21st dataset on PGT are that the implementation of trophectoderm biopsy with comprehensive whole-genome testing is most often applied for PGT-A and concurrent PGT-M/SR/A, while for PGT-M and PGT-SR, single-cell testing with PCR and FISH still prevail.What is known alreadySince it was established in 1997, the ESHRE PGT Consortium has been collecting and analysing data from mainly European PGT centres. To date, 20 datasets and an overview of the first 10 years of data collections have been published.Study design size durationThe data for PGT analyses performed between 1 January 2018 and 31 December 2018 with a 2-year follow-up after analysis were provided by participating centres on a voluntary basis. Data were collected using an online platform, which is based on genetic analysis and has been in use since 2016.Participants/materials setting methodsData on biopsy method, diagnostic technology, and clinical outcome were submitted by 44 centres. Records with analyses for more than one PGT for monogenic disorders (PGT-M) and/or PGT for chromosomal structural rearrangements (PGT-SR), or with inconsistent data regarding the PGT modality, were excluded. All transfers performed within 2 years after the analysis were included, enabling the calculation of cumulative pregnancy rates. Data analysis, calculations, and preparation of figures and tables were carried out by expert co-authors.Main results and the role of chanceThe current data collection from 2018 covers a total of 1388 analyses for PGT-M, 462 analyses for PGT-SR, 3003 analyses for PGT for aneuploidies (PGT-A), and 338 analyses for concurrent PGT-M/SR with PGT-A.The application of blastocyst biopsy is gradually rising for PGT-M (from 19% in 2016-2017 to 33% in 2018), is status quo for PGT-SR (from 30% in 2016-2017 to 33% in 2018) and has become the most used biopsy stage for PGT-A (from 87% in 2016-2017 to 98% in 2018) and for concurrent PGT-M/SR with PGT-A (96%). The use of comprehensive, whole-genome amplification (WGA)-based diagnostic technology showed a small decrease for PGT-M (from 15% in 2016-2017 to 12% in 2018) and for PGT-SR (from 50% in 2016-2017 to 44% in 2018). Comprehensive testing was, however, the main technology for PGT-A (from 93% in 2016-2017 to 98% in 2018). WGA-based testing was also widely used for concurrent PGT-M/SR with PGT-A, as a standalone technique (74%) or in combination with PCR or FISH (24%). Trophectoderm biopsy and comprehensive testing strategies are linked with higher diagnostic efficiencies and improved clinical outcomes per embryo transfer.Limitations reasons for cautionThe findings apply to the data submitted by 44 participating centres and do not represent worldwide trends in PGT. Details on the health of babies born were not provided in this manuscript.Wider implications of the findingsThe Consortium datasets provide a valuable resource for following trends in PGT practice.Study funding/competing interestsThe study has no external funding, and all costs are covered by ESHRE. There are no competing interests declared.Trial registration numberN/A.

Project description:Workers' compensation (WC) insurers collect large amounts of industrial hygiene (IH) data in the United States. The data collected is not easily accessible for research or surveillance purposes. Individual WC insurers are using computerized systems to standardize and store the IH data, leaving a gap in standardization among the different WC insurers. This study sought to standardize IH data collection among WC insurers and to determine the feasibility of pooling collected IH data. IH air and noise survey forms were collected from WC insurers. Data fields on the forms were evaluated for importance and a study list of core fields was developed. The core study list was presented to an IH review panel for review before finalization. The final core study list was compared to recommendations published by the American Conference of Governmental Industrial Hygienists (ACGIH) and the American Industrial Hygiene Association (AIHA). Fifty-nine forms from 10 organizations were collected. Industrial hygienists from research organizations, state-based WC insurers, and private WC insurers participated in the data field evaluation and on the review panel. For both air and noise survey forms, more than half the data fields (55% and 54%, respectively) were ranked as "essential." Three of the four fields in the worker and control observations category ranked "essential" were found less than half of the time on both types of survey forms. The study list of core data elements consisted of more than half of the data fields from both the air and noise survey forms. Three additional fields were added based on the comparison to the ACGIH-AIHA recommendations. Data fields essential to standardizing IH data collection were identified and verified. The "essential" data fields will be made available and have the potential to be incorporated into WC insurers electronic IH data management systems. Future research should focus on other IH survey forms, such as those used in ergonomic assessments and specific chemical exposures, and methods to transfer data fields to electronic platforms.

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Project description:Understanding patient experiences, quality of life, and treatment needs in individuals with sickle cell disease (SCD) is essential in promoting health and well-being. We used measures from the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me), Patient Reported Outcomes Measurement Information System (PROMIS), and Quality of Life in Neurological Disorders (NeuroQol) to evaluate pain impact, sleep impact, social functioning, depressive symptoms, tiredness, and cognitive function (collectively, patient reported outcomes [PROs]) and to identify associated demographic and clinical characteristics. Participants (n = 2201) between 18 and 45 years were recruited through the eight Sickle Cell Disease Implementation Consortium (SCDIC) sites. In multivariate models, PROs were significantly associated with one another. Pain impact was associated with age, education, employment, time since last pain attack, hydroxyurea use, opioid use, sleep impact, social functioning, and cognitive function (F = 88.74, P < .0001). Sleep impact was associated with household income, opioid use, pain impact, social functioning, depressive symptoms, and tiredness (F = 101.40, P < .0001). Social functioning was associated with employment, pain attacks in the past year, autoimmune/inflammatory comorbidities, pain impact, sleep impact, depressive symptoms, tiredness, and cognitive function (F = 121.73, P < .0001). Depressive symptoms were associated with sex, sleep impact, social functioning, tiredness, and cognitive function (F = 239.51, P < .0001). Tiredness was associated with sex, education, sleep impact, social functioning, depressive symptoms, and cognitive function (F = 129.13, P < .0001). These findings reflect the baseline PRO assessments among SCDIC registry participants. Further research is needed to better understand these outcomes and new targets for interventions to improve quality of life and function in people with SCD.

Dataset Information

Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry.

Background

Results

Conclusions

Publications

Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry.

Similar Datasets

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