Register zu seltenen Krankheiten

For rare diseases, clinical and epidemiological research suffers from very small numbers of cases. A comprehensive collection of data and information in registries is an essential precondition to improve this situation. To this end, a number of disease specific networks have started collecting data with support from the German Ministry of Research. The past experiences of the German Childhood Cancer Registry show that voluntary participation, based on informed consent, can result in a satisfactory completeness of data collection and, thus, enable successful medical research. There are several ways to build registries and research networks conforming to the data protection rules.     

Considerations Before Establishing an Environmental Health Registry

Public health registries can provide valuable information when health consequences of environmental exposures are uncertain or will likely take long to develop. They can also aid research on diseases that may have environmental causes that are not completely well defined.We discuss factors to consider when deciding whether to create an environmental health registry. Those factors include public health significance, purpose and outcomes, duration and scope of data collection and availability of alternative data sources, timeliness, availability of funding and administrative capabilities, and whether the establishment of a registry can adequately address specific health concerns.We also discuss difficulties, limitations, and benefits of exposure and disease registries, based on the experience of the Agency for Toxic Substances and Disease Registry.The use of public health registries has become increasingly common in the past 2 decades.1,2 Although they are widespread in the context of immunizations, cancer epidemiology, and drug development research,3 the field of environmental health has also benefited from the establishment of a number of disease and exposure registries.A registry is generally defined as a set of records containing systematically collected, standardized data about individual people.4 These data are typically acquired, maintained, and updated over a prolonged period, usually years. Registries range from only a listing of exposed individuals with associated contact information to a research repository of information that includes demographics, exposure data, and health information. A public health registry is set up to accomplish a public health goal or activity. It might be used to obtain information on people who have a particular disease, a condition or a risk factor that predisposes them to illness from a health-related event, or previous exposure to substances or circumstances known or suspected to cause adverse health effects. The particular data assembled are a function of the purpose of the registry. The variables might be chosen to help study or detect specific health problems or to study treatments in specific individuals or disorders. In the context of environmental health, registries include information regarding individual exposures to chemical or physical environmental agents or the known or potential consequences of such exposures.The central purpose of a registry is to facilitate epidemiological research or provide information to registrants about a certain disease, exposure, or event. Registries are also used to generate relevant statistics about the group of registered people. We discuss the main factors to consider when deciding whether to create an environmental health registry. We also discuss some of the difficulties, limitations, and benefits of registries, based on the experience of their use by the Agency for Toxic Substances and Disease Registry (ATSDR) in the United States.     

Development of orphan vaccines: an industry perspective

The development of vaccines against rare emerging infectious diseases is hampered by many disincentives. In the face of growing in-house expenditures associated with research and development projects in a complex legal and regulatory environment, most pharmaceutical companies prioritize their projects and streamline their product portfolio. Nevertheless, for humanitarian reasons, there is a need to develop niche vaccines for rare diseases not preventable or curable by other means. The U.S. Orphan Drug Act of 1983 and a similar proposal from the European Commission (currently under legislative approval) provide financial and practical incentives for the research and development of drugs to treat rare diseases. In addition, updated epidemiologic information from experts in the field of emerging diseases; increased disease awareness among health professionals, patients, and the general public; a list of priority vaccines; emergence of a dedicated organization with strong leadership; and the long-term pharmacoeconomic viability of orphan products will be key factors in overcoming the complexity of orphan status and the limited need for vaccine.     

Insulin-dependent diabetes mellitus: applications of health records for understanding etiology. The Pittsburgh IDDM Registry Group

The estimation of incidence (or risk) of disease depends on accurate and complete reporting of new cases and precise estimation of the population at risk. Therefore, incidence studies are often based on population-based incidence registries. A critical problem in diabetes research, however, has been the lack of adequate population-based data. For diseases that have a distinct and rapid onset, the best method of obtaining population-based data is to develop registries of community health information. These disease registries form an important tool for assessing the clinical course of diseases and can lead to an understanding of their etiology and pathogenesis. Moreover, by facilitating identification of cases, disease registries can serve as a population source for genetic and immunological testing, the results of which can be directly related to absolute risk. Evaluation of factors associated with a disease can suggest methods for reducing its incidence and even lead to its eradication. Such registries also permit the evaluation of existing or proposed health care measures. Registry information can rapidly be communicated to the local area health authorities to assist in altering patterns of care. Registries are therefore important for understanding the etiology and complications of chronic diseases as well as for evaluation of medical care in populations. For diabetes, and in particular, insulin-dependent diabetes, the development and comparison of registries in diverse populations worldwide may be more important than for other diseases. A major reason for developing them is that the disease is very costly both for patients and society.(ABSTRACT TRUNCATED AT 250 WORDS)     

Position of the American Dietetic Association: Oral health and nutrition

It is the position of the American Dietetic Association (ADA) that nutrition is an integral component of oral health. The ADA supports the integration of oral health with nutrition services, education, and research. Collaboration between dietetics and dental professionals is recommended for oral health promotion and disease prevention and intervention. Scientific and epidemiological data suggest a lifelong synergy between nutrition and the integrity of the oral cavity in health and disease. Oral health is an integral part of systemic and nutritional health. Two primary oral infectious diseases are directly influenced by diet and nutrition. Dental caries or tooth decay is modulated by numerous factors, including diet composition and frequency. Periodontal or gum disease is associated with malnutrition. Chronic diseases such as diabetes and cardiovascular disease that are modulated by diet and nutrition intervention have oral sequelae. As we advance in our discoveries of the links between oral and nutrition health, practitioners of both disciplines must learn to provide screening, baseline education, and referral to each other as part of comprehensive client/patient care. The future of dietetics practice requires dietetics professionals to provide medical nutrition therapy (MNT) that incorporates a person's total health needs, including oral health. Inclusion of both didactic and clinical practice concepts that illustrate the role of nutrition in oral health is essential in both dental and dietetic education programs. Collaborative endeavors between dietetics and dentistry in research, education, and delineation of health provider practice roles are needed to ensure comprehensive health care to persons with oral infectious disease and/or oral manifestations of systemic diseases.     

国内外罕见病患者医疗保障现状探讨及启示

目的通过了解国外罕见病患者医疗保障现状,为国内罕见病患者医疗保障改进提供借鉴,为完善我国罕见病立法及政策提出初步构想。方法检索2006年-2016年国外关于罕见病患者医疗保障的文献,对文献观点及结论进行统计分析。结果国外对于罕见病患者的医疗保障主要以界定罕见病内涵、提高罕见病药品可及性与医疗保险报销比重等方面作为讨论重点。结论罕见病患者医疗保障在不同国家和地区存在差异,本研究涉及鼓励罕见病科学研究、规范罕见病药物管理、增加罕见病在医疗保险体系中的占有率等若干策略     

Practice Paper of the Academy of Nutrition and Dietetics Abstract: The Role of Nutrition in Health Promotion and Chronic Disease Prevention

Food intake, lifestyle behaviors, and obesity are linked to the development of chronic diseases such as type 2 diabetes, certain cancers, and cardiovascular diseases. It is recognized that physical and social environment influences individuals' behaviors, and some population subgroups such as racial/ethnic minorities and individuals with low socioeconomic status or limited literacy or language abilities seem to be especially vulnerable to disparities in disease risk factors, disease prevalence, or health outcomes. Certain life cycle phases appear to be especially important for health promotion and disease prevention as the development of chronic diseases can take several decades. Such complex health issues often require system-wide, multifactorial, and multidisciplinary solutions. Social ecological models, with approaches spanning from individual level to macro policy level, can provide registered dietitians (RDs) and dietetic technicians, registered (DTRs) with a comprehensive framework to promote health and to prevent chronic diseases. Furthermore, the Nutrition Care Process can be utilized in carrying out the health promotion and disease prevention efforts. RDs and DTRs have the training and requisite skills to be leaders and active members of multidisciplinary teams to promote health and prevent chronic diseases across the life span. The position of the Academy of Nutrition and Dietetics states that primary prevention is the most effective, affordable method to prevent chronic disease, and that dietary intervention positively impacts health outcomes across the life span. RDs and DTRs are critical members of health care teams and are essential to delivering nutrition-focused preventive services in clinical and community settings, advocating for policy and programmatic initiatives, and leading research in disease prevention and health promotion. In concordance with the Academy's position, this practice paper provides an overview of practice examples, effective program components, and a comprehensive range of health promotion and chronic disease prevention strategies for RDs and DTRs. This paper supports the “Position of the Academy of Nutrition and Dietetics: The Role of Nutrition in Health Promotion and Chronic Disease Prevention” published in the July 2013 Journal of the Academy of Nutrition and Dietetics.     

Why rare diseases?

Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.     

Measuring the burden of disease due to premature mortality using Standard Expected Years of Life Lost (SEYLL) in North Rhine-Westphalia, a Federal State of Germany, in 2005

Aims and subjects

Burden of disease (BoD) estimates are increasingly used in public health for assessing population health. Disability Adjusted Life Years (DALYs)—a summary measure frequently used in BoD studies—sum up the impact on health due to premature death and non-fatal health outcomes and allow for comprehensive and comparable assessments. To provide first estimates on the burden of disease in North Rhine-Westphalia (NRW), we calculated the burden due to premature death using Standard Expected Years of Life Lost (SEYLL), which is one of the two components of DALYs.

Materials and methods

Methods provided by the World Health Organisation (WHO) and developed for the Global BoD (GBoD) study were used to estimate SEYLL in NRW in 2005. We used administrative death and cause of death statistics provided by local authorities.

Results

In 2005, the total burden of disease due to premature death was 1,774,926 SEYLLs. According to the GBoD disease categories, non-communicable (group II) diseases accounted for 89.1% of the burden. Communicable, maternal, perinatal and nutritional (group I) conditions contributed to 5.6% and injuries (group III conditions) to 5.3% of the total burden. The three leading single causes of the burden of disease due to premature death were ischaemic heart diseases, lung cancers and cerebrovascular diseases, together accounting for 558,785 SEYLLs (32%).

Conclusion

First estimates of the burden of disease were feasible for NRW by use of WHO tools and administrative data. The findings of our study are consistent with WHO GBoD estimates and studies performed for other high-income countries. Our SEYLL results usefully complement the available health statistics highlighting diseases and injuries leading to death at an early age of life. However, our estimates are restricted to the impact of premature death and do not provide information on non-fatal health outcomes. Thus, future work should target estimates of the Years of Life Lost due to Disability (YLD) to provide a comprehensive assessment of the burden of disease in NRW.     

Comparing spatio-temporal clusters of arthropod-borne infections using administrative medical claims and state reported surveillance data

Considered separately, notifiable disease registries and medical claims data have certain advantages (e.g., consistent case definitions and electronic records, respectively) and limitations (e.g., incomplete reporting and coding errors, respectively) within disease outbreak research. Combined however, these data could provide a more complete source of information. Using a retrospective space-time permutation scan statistic, zoonotic case information from a state registry system (TDH) was compared with administrative medical claims information from a managed care organization (MCO) to examine how data sources differ. Study observations included case information for four tick-borne (Lyme disease, ehrlichiosis, Rocky Mountain spotted fever, tularemia) and two mosquito-borne diseases (West Nile virus, La Crosse viral encephalitis) occurring in Tennessee. One hundred and three clusters were detected, of which nine were significant (P<0.05). Considering only significant clusters, no spatial or temporal overlapping between data sources occurred. In conclusion, data integration efforts and data limitations should be considered to provide more comprehensive case information.     

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

Background

The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections.

Methods

A reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders’ information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains.

Results

The reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service.

Conclusions

The definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.

     

Rare diseases. Concept, epidemiology and state of the question in Spain

Rare diseases are those whose prevalence is below 5 cases per 10,000 inhabitants in the European Community. Most cases are diagnosed during paediatric age due to their genetic origin, while some others are congenital malformations. Nevertheless, a higher prevalence is seen during adulthood as most of the former diseases are very severe and patients die during childhood. At the same time, higher survival rates are related to some chronic rare diseases in adults. The Spanish Network of Research Epidemiology for Rare Diseases (REpIER) developed the first atlas showing the geographical distribution of rare diseases in Spain, assessed the Spanish rare disease registries, contributed to the further development of regional plans on rare diseases, as well as to social and health actions, and established the real group of needs to be solved. These have been included in the Communication of the European Commission on Rare Diseases as well as in the Spanish Senate Presentation.     

Maßnahmen zur Verbesserung der gesundheitlichen Situation von Menschen mit seltenen Erkrankungen in Deutschland

Background

Approximately 4 million patients with a rare disease live in Germany. The medical care of these patients is problematic because of the rarity and heterogeneity of different clinical pictures. The Federal Ministry of Health has therefore published a research report on “Measures to improve the health situation of people with rare diseases in Germany” in 2009.

Objective

The aim of this paper is to present the main recommendations of this research report and relate it to current developments in the field of medical care for people with rare diseases.

Methodology

The care situation of patients with rare diseases was determined using questionnaires, expert interviews and focus group discussions with representatives of patients, service providers and stakeholders from the health institutions.

Results

The main range of actions that have been identified in the research report were centre and network formation, specialized forms of medical care, diagnosis and treatment, information and experience exchange, performance fees and reimbursement of the costs, guidelines and patient pathways, the research, the implementation of a National Action Alliance and the development of a National Action Plan.

Discussion

In March 2010 a National Action League for People with Rare Diseases (NAMSE) was founded. The NAMSE created a national plan of action for people with rare diseases for improving medical care in the field of rare diseases which was approved by the Federal Government in August 2013. Thus, two important areas of the research report have already been implemented. In a comparison of the areas of activity of the research report with those of the National Action Plan it becomes clear that priorities will be in the context of health services research in rare diseases, for example the introduction of centres of reference for rare diseases, measures to accelerate the diagnostic process and the promotion of research and information management in the future.     

Genetic variation in lipid desaturases and its impact on the development of human disease

Perturbations in lipid metabolism characterize many of the chronic diseases currently plaguing our society, such as obesity, diabetes, and cardiovascular disease. Thus interventions that target plasma lipid levels remain a primary goal to manage these diseases. The determinants of plasma lipid levels are multi-factorial, consisting of both genetic and lifestyle components. Recent evidence indicates that fatty acid desaturases have an important role in defining plasma and tissue lipid profiles. This review will highlight the current state-of-knowledge regarding three desaturases (Scd-1, Fads1 and Fads2) and their potential roles in disease onset and development. Although research in rodent models has provided invaluable insight into the regulation and functions of these desaturases, the extent to which murine research can be translated to humans remains unclear. Evidence emerging from human-based research demonstrates that genetic variation in human desaturase genes affects enzyme activity and, consequently, disease risk factors. Moreover, this genetic variation may have a trans-generational effect via breastfeeding. Therefore inter-individual variation in desaturase function is attributed to both genetic and lifestyle components. As such, population-based research regarding the role of desaturases on disease risk is challenged by this complex gene-lifestyle paradigm. Unravelling the contribution of each component is paramount for understanding the inter-individual variation that exists in plasma lipid profiles, and will provide crucial information to develop personalized strategies to improve health management.     

Tackling rare diseases at European level: why do we need a harmonized framework?

Since 1999 the European Commission has gradually developed a proactive approach towards rare diseases (RD). Despite the progress made over the last years, a comprehensive and evidence based approach is still missing in many EU Member States (MS), leading to an incomplete and often inadequate framework to address rare diseases. Healthcare systems in EU MS differ to great extent among countries in respect to their organization and funding. In general, they are not ready to face the specific problems and needs of people with rare diseases for possible prevention, timely diagnosis, adequate treatment and rehabilitation. Access to new advanced treatment and approved orphan drugs by EMEA is also a big challenge for many MS. A public health approach is needed to properly tackle rare diseases. It is a while that the idea of a comprehensive approach addressing the different challenges of rare diseases is under discussion. In our opinion, the first step to build a comprehensive approach is to properly plan the activities to undertake accordingly to needs, gaps and resources available in a Country. It is therefore important to develop a strategic plan. Adopting a strategic planning approach to rare diseases implies taking advantage of ongoing actions and building on it to adjust, re-orient or expand the response. So far only France has developed a national strategic plan for rare diseases, Bulgaria is in the process of approving its national plan for RD and Spain is in the process of developing it. In this context, considering the importance of developing national plans for RD, it would be very useful to develop recommendations for RD national plan development in order to provide an instrument to support Countries in designing their national plans. The three MS initiatives presented in this paper confirmed the availability of great experiences and expertises among many EU MS and supported the idea that all these different experiences available at the EU level should form the basis for developing recommendations on how to develop strategic plans for RD. The recommendations will provide an instrument to support Countries in designing national plans contributing to the development of a harmonised and evidence based approach for addressing RD in EU MS. The elaboration of a European Commission Communication on rare diseases will ensure that common policy guidelines are shared everywhere in Europe. The availability of recommendations for developing national plans on rare diseases will link MS efforts with a common strategy at European level.     

The global roadmap for advancing development of vaccines against sexually transmitted infections: Update and next steps

In 2014, the World Health Organization, the US National Institutes of Health, and global technical partners published a comprehensive roadmap for development of new vaccines against sexually transmitted infections (STIs). Since its publication, progress has been made in several roadmap activities: obtaining better epidemiologic data to establish the public health rationale for STI vaccines, modeling the theoretical impact of future vaccines, advancing basic science research, defining preferred product characteristics for first-generation vaccines, and encouraging investment in STI vaccine development. This article reviews these overarching roadmap activities, provides updates on research and development of individual vaccines against herpes simplex virus, Chlamydia trachomatis, Neisseria gonorrhoeae, and Treponema pallidum, and discusses important next steps to advance the global roadmap for STI vaccine development.     

Overview of research activities associated with the World Health Organization: results of a survey covering 2006/07

Background

This paper presents the first comprehensive effort to provide an overview of the research associated with the World Health Organization (WHO) headquarters in 2006/07.

Methods

Information was obtained by questionnaire and interviews with senior staff operating at WHO headquarters in Geneva. Research type, purpose and resources (both financial and staff) were defined and compared for each of the 37 departments identified and a comparative analysis was made with the global burden of disease as expressed by Disability Adjusted Life Years (DALY).

Results

Research expenditure in 2006/07 was estimated at US$215 million. WHO is involved in more than 60 research networks/partnerships and often WHO itself is the network host. Using the DALY model, 84% of the funding WHO allocates to research goes to DALY Type I diseases (communicable, maternal, perinatal and nutritional diseases) which represents 40% of DALY. 4% is allocated to Daly Type II (non-communicable diseases) which contributes to 48% of DALY. 45% of WHO permanent staff are involved with health research and the WHO's approach to research is predominantly focused on policy, advocacy, health systems and population based research. The Organization principally undertakes secondary research using published data and commissions others to conduct this work through contracts or research grants. This approach is broadly in line with the stated strategy of the Organization.

Conclusions

The difficulty in undertaking this survey highlights the complexity of obtaining an Organization-wide assessment of research activity in the absence of common standards for research classification, methods for priority setting and a mechanism across WHO, or within the governance of global health research more generally, for managing a research portfolio. This paper presents a strategic birds-eye view of the WHO research portfolio using methodologies that, with further development, may provide the strategic information required if there is to be balancing of research efforts between communicable disease, non-communicable disease and other pressing public health needs. As the rollout of the WHO strategy on research for health proceeds we would hope to see similar exercises undertaken at the WHO Regional Offices and in support of capacity building of national health research systems within Member States.     

Developing performance measures for immunization registries.

Quantitative performance indicators were developed to monitor immunization registry progress of the 16 All Kids Count (AKC) grantees. Results were reviewed to determine if (1) the indicators measured immunization registry progress, (2) the results could be compared across AKC projects, and (3) other immunization registries could use the indicators. The study found that the AKC performance indicators provide a useful template for registries to measure their progress toward developing fully mature registries. Public health leaders should join with private health sector representatives to build on the immunization registry experience and develop and test performance indicators for integrated information systems in order to develop common goals and monitor changes in a comprehensive way.     

German health interview and examination survey for adults (DEGS) - design, objectives and implementation of the first data collection wave

ABSTRACT: BACKGROUND: The German Health Interview and Examination Survey for Adults (DEGS) is part of the recently established national health monitoring conducted by the Robert Koch Institute. DEGS combines a nationally representative periodic health survey and a longitudinal study based on follow-up of survey participants. Funding is provided by the German Ministry of Health and supplemented for specific research topics from other sources. METHODS: The first DEGS wave of data collection (DEGS1) extended from November 2008 to December 2011. Overall, 8152 men and women participated. Of these, 3959 persons already participated in the German National Health Interview and Examination Survey 1998 (GNHIES 98) at which time they were 18--79 years of age. Another 4193 persons 18--79 years of age were recruited for DEGS1 in 2008--2011 based on two-stage stratified random sampling from local population registries. Health data and context variables were collected using standardized computer assisted personal interviews, self-administered questionnaires, and standardized measurements and tests. In order to keep survey results representative for the population aged 18--79 years, results will be weighted by survey-specific weighting factors considering sampling and drop-out probabilities as well as deviations between the design-weighted net sample and German population statistics 2010. DISCUSSION: DEGS aims to establish a nationally representative data base on health of adults in Germany. This health data platform will be used for continuous health reporting and health care research. The results will help to support health policy planning and evaluation. Repeated cross-sectional surveys will permit analyses of time trends in morbidity, functional capacity levels, disability, and health risks and resources. Follow-up of study participants will provide the opportunity to study trajectories of health and disability. A special focus lies on chronic diseases including asthma, allergies, cardiovascular conditions diabetes mellitus, and musculoskeletal diseases. Other core topics include vaccine-preventable diseases and immunization status, nutritional deficiencies, health in older age, and the association between health-related behavior and mental health.