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Featured researches published by K. Gramsch.


Journal of Neurology | 2015

Adult care for Duchenne muscular dystrophy in the UK

Sunil Rodger; Katherine L. Woods; Catherine L. Bladen; Angela Stringer; Julia Vry; K. Gramsch; Janbernd Kirschner; Rachel Thompson; K. Bushby; Hanns Lochmüller

Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland). UK adults experience less comprehensive care compared to children in their access to specialized clinics, frequency of cardiac and respiratory assessments, and access to professional physiotherapy. Access to the latter is especially poor when compared to other European adult cohorts. Although the total number of nights in hospital (planned and unplanned admissions) is lower among UK adults than elsewhere in Western Europe, social inclusion lags behind other Western European countries. We observe that attendance at specialized clinic is associated with more frequent cardiac and respiratory assessments among adults, in line with international best practice. Attendance at such clinics in the UK, though comparable to other countries, is still far from universal. With an increasing adult population living with DMD, and cardiac and respiratory failure the leading causes of death in this population, we suggest the need for an urgent improvement in adult access to specialized clinics and to consistent, comprehensive best practice care.


Orphanet Journal of Rare Diseases | 2013

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.

Sunil Rodger; Hanns Lochmüller; Adrian Tassoni; K. Gramsch; Kirsten König; Kate Bushby; Volker Straub; Rudolf Korinthenberg; Janbernd Kirschner

BackgroundRare diseases pose many research challenges specific to their scarcity. Advances in potential therapies have made it more important than ever to be able to adequately identify not only patients with particular genotypes (via patient registries) but also the medical professionals who provide care for them at particular specialist centres of expertise and who may be competent to participate in trials. Work within the neuromuscular field provides an example of how this may be achieved.MethodsThis paper describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR), an initiative of an EU-funded Network of Excellence, and its utility in providing an infrastructure for clinical trial feasibility, recruitment, and other studies.Results285 CTSR-registered centres, reporting 35,495 neuromuscular patients, are described alongside an analysis of their provision for DMD. Site characteristics vary by country: the average number of DMD patients seen per site in the United States (96) is more than in Germany (25), and paediatric/adult breakdown is also markedly distinct. Over 70% of sites have previous trial experience, with a majority including a Clinical Trials Unit. Most sites also have MLPA diagnostic capability and access to a range of medical specialists. However, in the three countries reporting most sites (US, the UK and Germany), few had access to all core DMD specialists internally. Over 60% of sites did not report any form of transition arrangement.ConclusionsRegistries of care and trial sites have significant utility for research into rare conditions such as neuromuscular diseases, demonstrated by the significant engagement by industry and other researchers with the CTSR. We suggest that this approach may be applicable to other fields needing to identify centres of expertise with the potential to carry out clinical research and engage in clinical trials. Such registries also lend themselves to the developing context of European Reference Networks (ERNs), which seek to build networks of centres of expertise which fit specific criteria, and which may themselves aid the sustainability of such registries. This is particularly the case given the utility of registries such as the CTSR in enabling networks of best-practice care centres.


Orphanet Journal of Rare Diseases | 2012

How reference networks develop, implement, and monitor guidelines

J. Kirschner; Sunil Rodger; Julia Vry; K. Gramsch; Hanns Lochmüller; Kate Bushby

Rare diseases pose many challenges. A paucity of randomised controlled trials for most conditions means that best-practice care guidelines are often non-existent or poorly developed. Where they exist, healthcare professionals may be unaware of them. Furthermore, evaluation of guidelines is difficult, as traditional methods of health-care research (such as hospital admissions and mortality statistics with ICD codes) are not applicable to rare diseases. The CARE-NMD project to improve care for Duchenne muscular dystrophy (DMD) provides an example of how Reference Networks may develop, implement and monitor rare disease guidelines. The development of the DMD care guidelines was facilitated by the US Centres for Disease Control, and led by patient organisations, translational research networks, and health agencies. In the absence of overwhelming clinical trial evidence, 84 international experts used the RAND/UCLA Appropriateness Method (RAM) to generate consensus on the necessity and appropriateness of clinical interventions and assessments. Yet despite the guidelines, many DMD patients do not receive the treatment they describe. CARE-NMD has established a Reference Network of care centres for DMD in Europe, to disseminate guidelines, evaluate current practice and identify reasons for non-compliance, and assess guideline impact on quality of life. Dissemination, via professional and patient networks, has addressed the problem of a lack of awareness of guidelines for this rare disease. Strategies have included presentations at meetings, journal and website publications, media interviews, and professional training courses tailored to local needs in East European partner countries. The ‘Family Guide’, a more accessible version of the care guidelines, is now available in over 20 languages and has been very well received. To monitor implementation, the project has conducted the largest ever cross-sectional study of DMD patients and their families (n=1677, response rate 66%) across 7 European countries. This assessed – via process and outcome indicators – whether the care they receive aligns with the consensus guidelines, and reported quality of life. In addition, a survey of healthcare professionals has been distributed to care sites in these countries via the Care and Trial Site Registry (CTSR), an online self-registration platform for neuromuscular centres developed by the TREAT-NMD network of excellence. This now includes information on patient cohort, care settings, research activities and clinical trial capabilities of more than 200 sites. A Reference Network such as CARE-NMD enables implementation, assessment and monitoring of care guidelines for rare diseases. The data it gathers will be crucial in further developing and refining guidelines.


Neuromuscular Disorders | 2016

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

Fumi Takeuchi; Hirofumi Komaki; Zentaro Yamagata; Kazushi Maruo; Sunil Rodger; Janbernd Kirschner; Takeo Kubota; En Kimura; Shin'ichi Takeda; K. Gramsch; Julia Vry; Kate Bushby; Hanns Lochmüller; Keiji Wada; Harumasa Nakamura

Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD. A combination of elevated serum creatine kinase and genetic testing usually led to the diagnosis (n = 31, 48%); 41 boys visited neuromuscular clinics more than once a year. Early diagnosis did not generally result in higher satisfaction among DMD families, and country-specific differences were observed. Psychosocial support following early diagnosis was perceived as insufficient in most countries, and deficits in access and uptake of genetic counselling resulted in lower satisfaction in the Japanese cohort. In conclusion, seamless and comprehensive support for DMD families following early diagnosis at presymptomatic stages should be taken into consideration if early genetic testing or newborn screening is made available more widely.


Neuromuscular Disorders | 2012

S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Julia Vry; K. Gramsch; Sunil Rodger; V. Antonova; Petr Brabec; N. Catlin; M. Garami; Velina Guergueltcheva; Agnes Herczegfalvi; Anna Kaminska; Veronika Karcagi; Anna Kostera-Pruszczyk; Anna Lusakowska; A. Mahoney; Lenka Mrázová; Lenka Pavlovská; J. Rahbek; Birgit F. Steffensen; S. Stringer; Ivailo Tournev; Petr Vondráček; A. Wasylyszyn; K. Bushby; Hanns Lochmüller; J. Kirschner

Abstract CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is the first step to identify gaps and to plan specific measures such as training sessions for professionals and workshops for patients. For this purpose, a large cross-sectional patient-survey about the received care and quality of life of patients with DMD has been performed since September 2011 in seven European countries: Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland and the United Kingdom. A total of 1,677 patients with Duchenne Muscular Dystrophy have received questionnaires via the national patient registries. For the assessment of quality of care we defined outcome and process indicators. Outcome indicators include stage of the disease, age at loss of ambulation, ability to sit, number of hospitalisations, cardiac and pulmonary function and age at diagnosis. Process indicators comprise the frequency of medical assessments and received treatment, e.g. the use of corticosteroids, non-invasive ventilation and assistive devices. By March 31st 1,093 of 1,677 patients/families responded (66 percent). Response by country were: Bulgaria 45/73, Czech Republic 92/191, Denmark 92/131, Germany 440/545, Hungary 62/70, Poland 137/246, and for United Kingdom 223/421. Key findings about health status, received treatment, and quality of life of patients with DMD in Europe will be presented. This is the largest ever cross-sectional survey of the care and quality of life of people with DMD. The final results will provide detailed insight into the current situation of people with DMD in Europe and help to identify gaps to further improve the situation of affected patients and families.


Neuromuscular Disorders | 2012

DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Sunil Rodger; V. Antonova; Petr Brabec; N. Catlin; M. Garami; K. Gramsch; Velina Guergueltcheva; Agnes Herczegfalvi; Anna Kaminska; Veronika Karcagi; Anna Kostera-Pruszczyk; Anna Lusakowska; A. Mahoney; Lenka Mrázová; Lenka Pavlovská; J. Rahbek; Birgit F. Steffensen; A. Stringer; Ivailo Tournev; Petr Vondráček; Julia Vry; A. Wasylyszyn; J. Kirschner; K. Bushby; Hanns Lochmüller

Abstract CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. Patient registries offer a valuable approach to engaging with the patient community, both to disseminate information and to survey their experiences. Registries permit the identification of a patient population with a precise genetic diagnosis, and are thus essential to the development of novel, mutation-specific therapeutic approaches such as exon-skipping. A core driving factor in their development has often therefore been clinical trial readiness: e.g. determining trial viability for a specific genetic mutation. However, as registries enable contact with a patient population, they also offer research opportunities outside the clinical trial domain. These include surveying availability of high-quality care and quality of life issues. Furthermore, registries permit the distribution of care information aimed at that particular audience. CARE-NMD has utilised patient registries in both of these contexts. The project has promoted knowledge of best-practice care via the translation and dissemination of the Family Guide to the care standards. This is now available in 22 languages via the CARE-NMD and TREAT-NMD websites, with 200 monthly downloads. The project has also conducted, via national patient registries in seven countries (Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK), the largest ever survey of care and quality of life for DMD. The overall response rate is 66%, with 1100 responses received (April 2012), and national response rates of 48–89%. The data gathered provide unparalleled information on the experience of patients and families living with DMD across Europe. The use of registries also enables the return of information to the patient community, enhancing patient-led advocacy for the availability of better care, and strengthening mutual understanding between rare disease researchers and the patient community.


Neuromuscular Disorders | 2012

S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

J. Rahbek; A. Højberg; A. Mahoney; Birgit F. Steffensen; Sunil Rodger; K. Bushby; Hanns Lochmüller; K. Gramsch; Julia Vry; J. Kirschner; V. Antonova; P. Brabek; Velina Guergueltcheva; Veronika Karcagi; Agnes Herczegfalvi; Anna Kostera-Pruszczyk; A. Wasylyszyn; Anna Lusakowska; N. Catlin; S. Stringer; Lenka Mrázová; P. Vondráèek

Abstract CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. As part of the project a survey of health related quality of life was to be conducted in seven countries. To select relevant methods of measurement a screening of seven existing instruments was carried out. Main criteria for selection were frequency of use, correspondence with domains in the International Classification of Functioning, Disability and Health (ICF), comparability with background population, and scope of cross cultural and geographical assessments. Three pediatric (one disease specific and two generic) and two (generic) instruments were chosen. A comprehensive questionnaire containing the selected instruments was designed and implemented through patient registries in Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK. The overall response rate was 66%. In addition to information on the experience of 1100 European patients and families living with DMD, the data will provide important knowledge about the options and feasibilities of cross national QoL assessments in Duchenne muscular dystrophy.


Journal of Neurology | 2017

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries

Christiane Otto; Birgit F. Steffensen; Ann-Lisbeth Højberg; Claus Barkmann; Jes Rahbek; Ulrike Ravens-Sieberer; Annette Mahoney; Julia Vry; K. Gramsch; Rachel Thompson; Sunil Rodger; Kate Bushby; Hanns Lochmüller; Janbernd Kirschner


Neuropediatrics | 2013

Current care practice in Duchenne muscular dystrophy in Europe - results of the CARE-NMD cross-sectional survey

Julia Vry; K. Gramsch; Kate Bushby; Hanns Lochmüller; Sunil Rodger; B Steffensen; Rahbek J; J. Kirschner


Neuromuscular Disorders | 2015

Health related quality of life in European adults with DMD: Results from the Care-NMD-project

Birgit F. Steffensen; C. Otto; U. Werlauff; J. Rahbek; A. Hoejberg; J. Kirschner; Julia Vry; K. Gramsch

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Julia Vry

University Medical Center Freiburg

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J. Kirschner

University Medical Center Freiburg

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Veronika Karcagi

National Institutes of Health

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Anna Lusakowska

Medical University of Warsaw

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Lenka Mrázová

Charles University in Prague

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