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

Frank, Martin; Eidt-Koch, Daniela; Aumann, Ines; Reimann, A.; Wagner, Thomas; Schulenburg, J.-Matthias Graf von der

doi:10.1007/s00103-014-2040-2

Cited by 21 publications

(12 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“… 24 The German National Action League for People with Rare Diseases founded in 2010 to improve medical care in the field of RDs has identified similar priorities for action: to introduce reference centers for RDs, to take measures to accelerate the diagnosis process, and for the promotion of research and information management. 25 Enhanced networking of RD specialists is expected to help improve some of the current issues RD patients are facing. The French RDs health care networks are expected to improve the coordination between reference and competence centers specialized in the same groups of pathologies.…”

Section: Discussionmentioning

confidence: 99%

The health and life path of rare disease patients: results of the 2015 French barometer

Heuyer¹,

Pavan²,

Vicard³

2017

PROM

View full text Add to dashboard Cite

PurposeA barometer has been set up to provide better knowledge about the daily situation of French rare disease (RD) patients, their families and relatives, in order to contribute to the elaboration of improvement measures. This report focuses on the care and life path of RD patients.Patients and methodsA preliminary survey was carried out with three patients, five parents and three RD experts to identify the main hurdles and disruptions in the life path of RD patients. It was used to design a larger survey comprising 60 questions as well as open fields allowing free expression. Respondents (448) comprised patients, parents of RD children and close relatives of patients. The Percentage of Maximum Deviation, Yates’ correction for continuity and Fisher’s test were employed to compare the responses between groups.ResultsLarge disparities in the delays to obtain a diagnosis were identified (<1 year to >20 years), and longer delays were associated with negative perception of care conditions. While good interactions with education teams were reported (59% of respondents), the professional situation of both patients and parents was strongly and negatively impacted by the disease (51% did not work or stopped working). Three hundred respondents expressed various needs and psychological and personal issues were reported by 62% and 75% of respondents, respectively. Interestingly, the medical care path and daily life of RD patients were positively impacted by the follow-up in a specialized consultation, as reflected by changes in scores measured by our barometer (Fisher’s test, p<0.05).ConclusionSome of the main hurdles and sources of disruption in the life path of RD patients were identified, as well as some positive outcomes. These data could serve not only as a background for further studies, but also to better adapt the support to real needs and to improve the synergies between the many people involved in the life path of RD patients.

show abstract

Section: Discussionmentioning

confidence: 99%

The health and life path of rare disease patients: results of the 2015 French barometer

Heuyer¹,

Pavan²,

Vicard³

2017

PROM

View full text Add to dashboard Cite

show abstract

“…(6) Many rare diseases are severe chronic conditions with a complex clinical presentation and a negative impact on life expectancy and quality of life. (7) Prevention and cure as well as adequate therapies exist only for a minority of rare diseases. (8) Implications for Patients Patients with rare diseases face a multitude of disease-related problems.…”

Section: Introductionmentioning

confidence: 99%

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis – suggestions on software, data set and coding system

Berger

Rustemeier

Göbel

et al. 2021

Preprint

View full text Add to dashboard Cite

Background: About 30 million people in the EU and USA, respectively, suffer from a rare disease. Driven by European legislative requirements, national strategies for the improvement of care in rare diseases are being developed. To improve timely and correct diagnosis for patients with rare diseases, the development of a registry for undiagnosed patients was recommended by the German National Action Plan. In this paper we focus on the question on how such a registry for undiagnosed patients can be built and which information it should contain.Results: To develop a registry for undiagnosed patients, a software for data acquisition and storage, an appropriate data set and an applicable terminology/classification system for the data collected are needed. We have used the open-source software OSSE (Open-Source Registry System for Rare Diseases) to build the registry for undiagnosed patients. Our data set is based on the minimal data set for rare disease patient registries recommended by the European Rare Disease Registries Platform. We extended this Common Data Set to also include symptoms, clinical findings and other diagnoses. In order to ensure findability, comparability and statistical analysis, symptoms, clinical findings and diagnoses have to be encoded. We evaluated three medical ontologies (SNOMED CT, HPO and LOINC) for their usefulness. With exact matches of 98% of tested medical terms, a mean number of five deposited synonyms, SNOMED CT seemed to fit our needs best. HPO and LOINC provided 73% and 31% of exacts matches of clinical terms respectively. Allowing more generic codes for a defined symptom, with SNOMED CT 99%, with HPO 89% and with LOINC 39% of terms could be encoded.Conclusions: With the use of the OSSE software and a data set, which, in addition to the Common Data Set, focuses on symptoms and clinical findings, a functioning and meaningful registry for undiagnosed patients can be implemented. The next step is the implementation of the registry in centres for rare diseases. With the help of medical informatics and big data analysis, case similarity analyses could be realized and aid as a decision-support tool enabling diagnosis of some patients.

show abstract

“…While rare diseases comprise a heterogeneous group of complex disease patterns, they are usually characterized by a severe, chronic course, limited life expectancy and occurrence of symptoms already in early childhood [ 3 ]. Disease management requires a high degree of support and care from parents and siblings leading to high demands on the family [ 4 ]. Children and adolescents with rare diseases, their siblings and parents are therefore often under high physical and psychological stress [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

et al. 2020

View full text Add to dashboard Cite

Background Families of children with rare diseases (i.e., not more than 5 out of 10,000 people are affected) are often highly burdened with fears, insecurities and concerns regarding the affected child and its siblings. Although families caring for children with rare diseases are known to be at risk for mental disorders, the evaluation of special programs under high methodological standards has not been conducted so far. Moreover, the implementation of interventions for this group into regular care has not yet been accomplished in Germany. The efficacy and cost-effectiveness of a family-based intervention will be assessed. Methods/design The study is a 2x2 factorial randomized controlled multicenter trial conducted at 17 study centers throughout Germany. Participants are families with children and adolescents affected by a rare disease aged 0 to 21 years. Families in the face-to-face intervention CARE-FAM, online intervention WEP-CARE or the combination of both will be treated over a period of roughly 6 months. Topics discussed in the interventions include coping, family relations, and social support. Families in the control condition will receive treatment as usual. The primary efficacy outcome is parental mental health, measured by the Structured Clinical Interview for DSM-IV (SCID-I) by blinded external raters. Further outcomes will be assessed from the parents’ as well as the children’s perspective. Participants are investigated at baseline, 6, 12 and 18 months after randomization. In addition to the assessment of various psychosocial outcomes, a comprehensive health-economic evaluation will be performed. Discussion This paper describes the implementation and evaluation of two family-based intervention programs for Children Affected by Rare Disease and their Family’s Network (CARE-FAM-NET) in German standard care. A methodologically challenging study design is used to reflect the complexity of the actual medical care situation. This trial could be an important contribution to the improvement of care for this highly burdened group. Trial registration German Clinical Trials Register: DRKS00015859 (registered 18 December 2018) and ClinicalTrials.gov: NCT04339465 (registered 8 April 2020). Protocol Version: 15 August 2020 (Version 6.1). Trial status: Recruitment started on 1 January 2019 and will be completed on 31 March 2021.

show abstract

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

Cited by 21 publications

References 4 publications

The health and life path of rare disease patients: results of the 2015 French barometer

The health and life path of rare disease patients: results of the 2015 French barometer

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis – suggestions on software, data set and coding system

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

Contact Info

Product

Resources

About