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The global aHUS registry: methodology and initial patient characteristics.

ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is a rare, genetically-mediated systemic disease most often caused by chronic, uncontrolled complement activation that leads to systemic thrombotic microangiopathy (TMA) and renal and other end-organ damage.The global aHUS Registry, initiated in April 2012, is an observational, noninterventional, multicenter registry designed to collect demographic characteristics, medical and disease history, treatment effectiveness and safety outcomes data for aHUS patients. The global aHUS Registry will operate for a minimum of 5 years of follow-up. Enrollment is open to all patients with a clinical diagnosis of aHUS, with no requirement for identified complement gene mutations, polymorphisms or autoantibodies or particular type of therapy/management.As of September 30, 2014, 516 patients from 16 countries were enrolled. At enrollment, 315 (61.0 %) were adults (?18 years) and 201 (39.0 %) were <18 years of age. Mean (standard deviation [SD]) age at diagnosis was 22.7 (20.5) years. Nineteen percent of patients had a family history of aHUS, 60.3 % had received plasma exchange/plasma infusion, 59.5 % had a history of dialysis, and 19.6 % had received ?1 kidney transplant. Overall, 305 patients (59.1 %) have received eculizumab.As enrollment and follow-up proceed, the global aHUS Registry is expected to yield valuable baseline, natural history, medical outcomes, treatment effectiveness and safety data from a diverse population of patients with aHUS.US National Institutes of Health www.ClinicalTrials.gov Identifier NCT01522183 . Registered January 18, 2012.

SUBMITTER: Licht C

PROVIDER: S-EPMC4674928 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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The global aHUS registry: methodology and initial patient characteristics.

Licht Christoph C Ardissino Gianluigi G Ariceta Gema G Cohen David D Cole J Alexander JA Gasteyger Christoph C Greenbaum Larry A LA Johnson Sally S Ogawa Masayo M Schaefer Franz F Vande Walle Johan J Frémeaux-Bacchi Véronique V

BMC nephrology 20151210

<h4>Background</h4>Atypical hemolytic uremic syndrome (aHUS) is a rare, genetically-mediated systemic disease most often caused by chronic, uncontrolled complement activation that leads to systemic thrombotic microangiopathy (TMA) and renal and other end-organ damage.<h4>Methods</h4>The global aHUS Registry, initiated in April 2012, is an observational, noninterventional, multicenter registry designed to collect demographic characteristics, medical and disease history, treatment effectiveness an ...[more]

PMID: 26654630

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Project description:BackgroundLeigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community.ResultsPatient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress.ConclusionThis registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

Project description:BackgroundThere is paucity of data on heart failure (HF) in the Gulf Middle East. The present paper describes the rationale, design, methodology and hospital characteristics of the first Gulf acute heart failure registry (Gulf CARE).Materials and methodsGulf CARE is a prospective, multicenter, multinational registry of patients >18 year of age admitted with diagnosis of acute HF (AHF). The data collected included demographics, clinical characteristics, etiology, precipitating factors, management and outcomes of patients admitted with AHF. In addition, data about hospital readmission rates, procedures and mortality at 3 months and 1-year follow-up were recorded. Hospital characteristics and care provider details were collected. Data were entered in a dedicated website using an electronic case record form.ResultsA total of 5005 consecutive patients were enrolled from February 14, 2012 to November 13, 2012. Forty-seven hospitals in 7 Gulf States (Oman, Saudi Arabia, Yemen, Kuwait, United Gulf Emirates, Qatar and Bahrain) participated in the project. The majority of hospitals were community hospitals (46%; 22/47) followed by non-University teaching (32%; 15/47 and University hospitals (17%). Most of the hospitals had intensive or coronary care unit facilities (93%; 44/47) with 59% (28/47) having catheterization laboratory facilities. However, only 29% (14/47) had a dedicated HF clinic facility. Most patients (71%) were cared for by a cardiologist.ConclusionsGulf CARE is the first prospective registry of AHF in the Middle East, intending to provide a unique insight into the demographics, etiology, management and outcomes of AHF in the Middle East. HF management in the Middle East is predominantly provided by cardiologists. The data obtained from this registry will help the local clinicians to identify the deficiencies in HF management as well as provide a platform to implement evidence based preventive and treatment strategies to reduce the burden of HF in this region.

Project description:BackgroundThe ability to apply standard and interoperable solutions for implementing and managing medical registries as well as aggregate, reproduce, and access data sets from legacy formats and platforms to advanced standard formats and operating systems are crucial for both clinical healthcare and biomedical research settings.PurposeOur study describes a reproducible, highly scalable, standard framework for a device registry implementation addressing both local data quality components and global linking problems.Methods and resultsWe developed a device registry framework involving the following steps: (1) Data standards definition and representation of the research workflow, (2) Development of electronic case report forms using REDCap (Research Electronic Data Capture), (3) Data collection according to the clinical research workflow and, (4) Data augmentation by enriching the registry database with local electronic health records, governmental database and linked open data collections, (5) Data quality control and (6) Data dissemination through the registry Web site. Our registry adopted all applicable standardized data elements proposed by American College Cardiology / American Heart Association Clinical Data Standards, as well as variables derived from cardiac devices randomized trials and Clinical Data Interchange Standards Consortium. Local interoperability was performed between REDCap and data derived from Electronic Health Record system. The original data set was also augmented by incorporating the reimbursed values paid by the Brazilian government during a hospitalization for pacemaker implantation. By linking our registry to the open data collection repository Linked Clinical Trials (LinkedCT) we found 130 clinical trials which are potentially correlated with our pacemaker registry.ConclusionThis study demonstrates how standard and reproducible solutions can be applied in the implementation of medical registries to constitute a re-usable framework. Such approach has the potential to facilitate data integration between healthcare and research settings, also being a useful framework to be used in other biomedical registries.

Project description:BackgroundHypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a heterogeneous presentation, which coupled with its rarity, often leads to missed/delayed diagnosis and an incomplete understanding of its natural history. To better understand the epidemiology and clinical course of HPP, including timing of diagnosis after first reported manifestation, we present baseline data for patients enrolled in the Global HPP Registry.MethodsData were analyzed from patients with an HPP diagnosis confirmed by low serum ALP activity and/or an ALPL pathogenic variant, regardless of prior or current treatment, according to age at enrollment (children: < 18 y; adult: ≥18 y). All analyses were descriptive.ResultsOf 269 patients from 11 countries enrolled January 2015-September 2017, 121 (45.0%) were children and 148 (55.0%) were adults. The majority of children and adults were female (61.2 and 73.0%, respectively) and white (57.7 and 90.0%, respectively). Children had a median (min, max) age at earliest reported HPP manifestation of 7.2 months (- 2.3 mo, 16.0 y), which was > 12 months before diagnosis at age 20.4 months (- 0.2 mo, 16.0 y). In adults, the earliest reported manifestation occurred at a median (min, max) age of 37.6 years (0.2 y, 75.2 y), which preceded age at diagnosis (47.5 years [0.2 y, 75.2 y]) by ~ 10 years. Premature loss of deciduous teeth (48.2%, age ≥ 6 mo), bone deformity (32.5%), and failure to thrive (26.7%) were most commonly reported in the HPP-related disease history of children. Pain (74.5%), orthopedic procedures and therapies (44.6%), and recurrent and poorly healing fractures (36.5%) were most commonly reported in the HPP-related disease history of adults.ConclusionsThe Global HPP Registry represents the largest observational study of patients with HPP, capturing real world data. This analysis shows that diagnostic delay is common, reflecting limited awareness of HPP, and that HPP is associated with systemic manifestations across all ages. Many patients diagnosed in adulthood had HPP manifestations in childhood, highlighting the importance of taking thorough medical histories to ensure timely diagnosis.Trial registrationClinicaltrials.gov : NCT02306720 , December 2014; ENCePP.eu: EUPAS13526 , May 2016 (retrospectively registered).

Dataset Information

The global aHUS registry: methodology and initial patient characteristics.

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The global aHUS registry: methodology and initial patient characteristics.

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