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Significance of Patient Registries for Dermatological Disorders

2012; Elsevier BV; Volume: 132; Issue: 7 Linguagem: Inglês

10.1038/jid.2012.168

1523-1747

Mark P. de Souza, Vanessa Rangel Miller,

Genetic and rare skin diseases.

Patient registries for dermatological disorders are important sources of data for researchers, clinicians, and patients. The majority of registries are maintained by academic investigators with funding from federal agencies. However, these registries are fragmented and are maintained only as long as federal funding exists. Patient organizations and companies can serve as alternative sources of funding for registries. Patient registries for dermatological disorders are important sources of data for researchers, clinicians, and patients. The majority of registries are maintained by academic investigators with funding from federal agencies. However, these registries are fragmented and are maintained only as long as federal funding exists. Patient organizations and companies can serve as alternative sources of funding for registries. Patient registries are databases containing personal, medical, social, and financial data reported by a healthcare professional or by a patient or caregiver. For rare disorders, registries provide important epidemiological data to researchers (e.g., incidence and prevalence, symptoms, and severity to characterize the disorder), healthcare professionals (e.g., standard of care, diagnosis and prognosis), and registry participants (e.g., research projects, clinical trials with potential treatments). Registries can support policy initiatives and advocacy, and they provide data that often lead to deeper engagement among patients, families, researchers, doctors, and others in the healthcare community. There are several objectives of patient registries:(1)Characterize and describe the experiences of affected individuals.(2)Identify patients and treating physicians.(3)Assist the development of clinical care guidelines and improvements in care quality and disease outcomes.(4)Facilitate basic, translational, and clinical trials, including those testing new therapies.(5)Encourage research, including genotype–phenotype correlations, and publication.(6)Collect and store DNA and other biological/tissue samples from affected and unaffected family members.(7)Collect post-marketing surveillance data for approved drugs. Registries can capture data reported by healthcare professionals or by patients or their caregivers. The data may be collected in an anonymous manner or in an identified manner with necessary informed consent, data protection, and security measures compliant with current privacy and security regulations, e.g., the Health Insurance Portability and Accountability Act of 1996. De-identified data may be available to qualified researchers who analyze data from the registry in preparation of a research publication or clinical study. The capture of and access to data for analysis has greatly improved with the shift in data collection, storage, and controlled retrieval from cumbersome, paper-based registries to efficient web-based electronic databases. Quality control of the registry data is paramount, and many registries have dedicated nurses, curators, genetic counselors, or researchers who assist the principal investigator to ensure that data are complete and accurate. Although data collected by a healthcare professional tend to be more accurate than patient- or caregiver-reported data (Kehoe et al., 1994Kehoe R. Wu S. Leske M.C. et al.Comparing self-reported and physician-reported medical history.Am J Epidemiol. 1994; 139: 813-818PubMed Google Scholar), both types of data collection are important, especially for rare diseases, as there is often a paucity of information in the literature. Patients or caregivers with a rare disease are frequently highly motivated to contribute data to a registry and can provide first-hand information, e.g., the personal, social, and financial costs of a rare disease, that is not easily accessed by healthcare professionals or not generally reported in the literature (Rangel et al., 2012Rangel V. Martin A.S. Peay H.L. DuchenneConnect Registry Report. 2012Google Scholar). Registry curators review collected data and resolve inconsistent responses, a vital step in ensuring the accuracy of the data collected in patient-entered registries. Recruitment of patients for clinical trials can often take a long period of time, especially for rare disorders. This can slow down the development of new therapies and increase development costs. An up-to-date registry can accelerate the process (Nurok et al., 2010Nurok M. Eslick I. Carvalho C.R. et al.The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform.Lymphat Res Biol. 2010; 8: 81-87Crossref PubMed Scopus (14) Google Scholar) and reduce the time and costs of reaching full recruitment, by targeted communication with prescreened patient participants and providing data to expedite study planning and feasibility assessments. To maintain the utility of registries as a tool to facilitate research over time, it is important that participants’ profiles be regularly updated. In the past, maintaining an up-to-date registry was a major responsibility of the Registry Coordinator or the Principal Investigator, accomplished during patient visits or via telephone. With web-based registries, the logistics of updating the registry are greatly facilitated. For example, automated emails can be sent by the online registry via the Registry Coordinator on a periodic (e.g., annual, quarterly, or other) basis to prompt participants to provide missing information and update critical data points. A regular update of participant profiles can often provide researchers with valuable longitudinal data, establish baselines and natural history for rare disorders, and facilitate cost-effectiveness comparisons of therapies once they are available. Accessibility of data in a patient registry is critical to generating a better understanding of a rare disorder. Unfortunately, many registries established by academic investigators are not readily accessible to patients or investigators outside the sponsoring investigator’s facility, hospital, or university. Multiple registries for a single disease may emerge, and because no data collection standards exist investigators collect different data points using different methods and coding systems, squandering the potential value of a single well-controlled registry. Furthermore, owing to the expense of translation, registries are often available in only one language. For these reasons, the data collected for rare diseases tend to be fragmented, limiting pan-disorder analysis. Organizations such as Orphanet, NORD, and EURODIS, as well as the Office of Rare Diseases Research (ORDR, National Institutes of Health), are attempting to unify the existing, disparate registries for rare disorders, and, where none exist, to set up a single, broadly accessible registry for specific disorders. In addition, an information model and data standards have been proposed by the ORDR to aggregate patient registry data and support research across rare diseases (Office of Rare Diseases Research, National Institutes of Health, 2012Office of Rare Diseases Research, National Institutes of Health Common Data Elements. 2012http://rarediseases.info.nih.gov/PatientRegistry.aspxGoogle Scholar). Different stakeholders create and maintain patient registries for different reasons. In one survey of Orphanet, 95.3% of registries in Europe were sponsored by or hosted by academic institutions, 3.1% by companies, and 1.6% by patient organizations (n=514 registries) (Orphanet, 2011Orphanet Disease Registries in Europe, Orphanet Report Series, Rare Diseases collection.http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfDate: 2011Google Scholar). Although academic investigators may establish a registry for epidemiological research or clinical trial purposes, drug companies may set up a registry to comply with post-marketing surveillance requirements agreed upon with regulatory authorities. Patient or disease foundations may set up registries for advocacy, educational, or fund-raising purposes. Some countries, especially the Scandinavian countries, established national hospital registries several decades ago, and these registries are organized in a structured manner to provide access to administrative and clinical data. The Danish National Patient Register is probably the most comprehensive of these national registries (Lynge et al., 2011Lynge E. Sandegaard J.L. Rebolj M. The Danish National Patient Register.Scand J Public Health. 2011; 39: 30-33Crossref PubMed Scopus (2856) Google Scholar). Thus, for a single disease, there can be multiple registries organized by different academic institutions, patient organizations, federal agencies, or companies. For example, there are currently 29 patient registries for Duchenne Muscular Dystrophy in Europe listed on Orphanet, an online rare disease and orphan drug database (accessed April 4, 2012). Would it not be easier for patients, their caregivers, healthcare professionals, and researchers to have one centralized registry for DMD? Rare dermatologic diseases are not immune to registry proliferation because of their limited patient populations. Patient organizations, academic institutions, researchers, and companies could work together to set up a unified patient registry for each rare disorder. There are a number of registries for dermatological disorders (Table 1). In the United States, the NIH has provided the funding for several patient registries in dermatology, including those for ichthyosis (1994–2004), alopecia areata (2000–2012), epidermolysis bullosa (1986–2002), and scleroderma (2001-current). Such government support was critical to providing much-needed epidemiological data for these disorders, especially for rare disease subtypes, and there have been several publications resulting from these registries. Unfortunately, it has been challenging for principal investigators, universities, and patient organizations to sustain funding for these registries.Table 1Selected patient registries in dermatological disordersDisorderSponsorRegistry web siteAlopecia areataNational Alopecia Areata Foundationhttp://www.mdanderson.org/education-and-research/departments-programs-and-labs/programs-centers-institutes/alopecia-areata-registry/index.htmlAtopic dermatitisNational Institute of Allergy and Infectious Diseaseshttp://clinicaltrials.gov/ct2/show/NCT01494142Cutaneous lupusUniversity of Texas Southwesternhttp://www.utsouthwestern.edu/education/medical-school/departments/dermatology/research/cutaneous-lupus-registryEctodermal dysplasiaNational Foundation for Ectodermal Dsyplasias, with funding from Edimer Pharmaceuticalshttps://nfed.patientcrossroads.org/Epidermolysis bullosaDystrophic Epidermolysis Bullosa Research Association funded by Lotus Tissue Repairwww.ebcare.org (patient-reported data)COL7 mutation databasehttp://www.deb-central.org/molgenis.do (physician-reported database of COL7A mutations)Hereditary angioedemaHerediatry Angioedema Association, with funding from Dyax, CSL Behring, Shire, Viropharmahttp://www.haea.org/get-involved/us-haea-scientific-registryIcthyosisFoundation for Ichthyosis and Related Skin Typeshttp://depts.washington.edu/ichreg/ichthyosis.registry/Pachyonychia congenitaPachyonychia Congenita Projecthttp://www.pachyonychia.org/Pediatric eczemaValeant Pharmaceuticalshttps://enroll.thepeerprogram.org/followup/FollowupLogin.actionPsoriasisMedical University, Grazhttp://www.psoriasis-therapieregister.atScleroderma family registry and DNA repository at University of TexasUniversity of Texas, NIHhttp://www.uth.tmc.edu/scleroderma_regXeroderma pigmentosumXeroderma Pigmentosum Family Support Grouphttp://xppatientregistery.net/Abbreviation: NIH, National Institutes of Health. The table does not include a number of registries for skin cancers. Open table in a new tab