Results of EJP RD Joint Transnational Call (JTC2021)
In December 2020 the EJP RD launched its third Joint Transnational Call (JTC2021) co-funded with the European Commission to fund multilateral “Social sciences and Humanities Research to improve health care implementation and everyday life of people living with a rare disease”. The aim of the call was to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear future benefit for patients. Sixteen countries joined this call: Austria, Belgium, Canada, Estonia, France, Germany, Hungary, Israel, Italy, Lithuania, Luxembourg, Poland, Slovakia, Spain, Switzerland and Turkey.
The process included a two-step submission and evaluation procedure.
In the first step a total of 38 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 22 pre-proposals were selected for full submission. Each of the full proposals was then evaluated by at least two additional external experts whose reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts’ arguments and evaluations. Both inputs were taken into account in a second SEC meeting.
Following the second SEC evaluation and ranking of the best projects, 12 consortia with a foreseen budget of about 11.5 Mio € were selected for funding, including 0.4 Mio € of co-funding from the European Commission.
The list of funded projects is detailed below. More information on the outcomes of the call (statistics, etc.) will be provided soon.
Social and psychological long-term impact of NMDA receptor encephalitis
Charité – Universitätsmedizin Berlin
Wroclaw Medical University
Fundacio Clinic per a la Recerca Biomédica (FCRB)
Hôpital neurologique et neurochirurgical Pierre Wertheimer
Patient Advocacy Organisation
Anti NMDAR Encephalitis Foundation
NMDA receptor encephalitis is a rare autoimmune disease with severe neurological symptoms (e.g. hallucinations, seizures), but a typically good functional neurological outcome. Yet, most patients experience long-term cognitive & psychological impairments with significant consequences for their quality of life. However, as the disease was only recently discovered (2007), this psychosocial impact has not been studied systematically. The proposed study aims at characterising the long-term cognitive and psychosocial consequences of this rare disease across three levels. Level 1 combines semi-structured interviews & focus groups investigating the experiences important to patients with NMDAR encephalitis and their caregivers. These will inform the development of a short semi-structured interview at level 2 which will be combined with standardised assessment of cognition, patient-reported outcome & experience measures, and outcome predictors. This includes memory function, problem solving, and spatial navigation, which have been shown to be key areas of impairment. Level 3, an online study, will be open for patients worldwide and allow assessing the impact of different health care systems and cultural factors on outcome. Four patient advocacy organisations will be closely involved in all study phases. Finally, by combining international expertise from clinical neurology, social & health psychology, our study will provide an assessment tools online and develop specific guidelines for outpatient follow-up care to improve quality of life for patients and caregivers worldwide.
Quality of life of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases
VUB – Vrije Universiteit Brussel
Caiata Zufferey, Maria
University of Applied Sciences and Arts of Italian Switzerland – SUPSI
De Gottardi, Andrea
UNIVERSITA DELLA SVIZZERA ITALIANA
FUNDACION PARA EL FOMENTO DE LA INVESTIGACION SANITARIA Y BIOMEDICA DE LA COMUNITAT VALENCIANA
CONSORCI INSTITUT D’INVESTIGACIONS BIOMEDIQUES AUGUST PI I SUNYER
Literature on quality of life (QoL) in of rare diseases focuses on disease-related variables, keeping a biomedical model that fails to incorporate the social and the subjective dimensions of QoL.
The objective is to develop research on the impact of rare diseases on QoL by a) developing a questionnaire emphasizing the social impact of diseases and b) assessing QoL comprehensively, using participatory methods. LIVES is based in the setting of vascular liver diseases (VLD) and seeks to be transferable to other diseases.
– WP1 will provide a conceptual and methodological framework. Case studies will be conducted to provide comprehensive data. A questionnaire will be developed, and linked to available general population data, for normative comparisons at the country level.
– WP2 A questionnaire study will be conducted in patients treated for VLD. QoL data will be linked to clinical data collected within a European research network. Comparisons will be made with data of the general population and data collected in other rare diseases.
– WP3 A peer-based research using qualitative methods will be conducted with patients participating to WP2, to allow for a more subjective understanding of QoL and an identification of unmet needs.
– WP4 will use data of WP2 and 3 to refine the questionnaire, which will then be implemented on REDCap, a clinical research software freely available for academia.
– WP5 will coordinate.
The project gathers partners from different SSH disciplines, clinicians, and patients’ representatives in a balanced workplan involving 5 European countries.
Co-designing a Core Outcome Set for and with patients with Idiopathic Pulmonary Fibrosis (IPF)
Katholieke Universiteit Leuven
Thoraxklinik Heidelberg Gemeinnutzige GEM GMBH
Stenzel, Nikola Maria
Psychologische Hochschule Berlin (PHB)
Katholieke Universiteit Leuven
Patient Advocacy Organisation
European Lung Foundation –Europe (ELF)
Idiopathic pulmonary fibrosis (IPF) is a rare disease that is more common in older people. It causes scarring and swelling of the lungs. IPF continues to get worse and cannot be cured yet. Major progress has been made in diagnosing and treating IPF early on. Patient advocacy groups and lung specialists stress that patients living with IPF continue to have major unmet needs. Clinical IPF teams should offer patients a personalized treatment plan tailored to their individual needs. We still do not know exactly what outcomes (factors) are most important to patients and clinicians. Outcomes can cover whether a patient feels better or whether certain test results change following a treatment. Not knowing which outcomes are important can slow-down attempts to improve the care and quality of life of people living with IPF. The “Co-designing a Core Outcome Set for and with patients with Idiopathic Pulmonary Fibrosis” (COCOS-IPF) project aims to develop a Core Outcome Set and their corresponding measures for IPF care in Europe. A Core Outcome Set is a group of outcomes that have been agreed to be important and can be used by clinicians and researchers all over the world to support shared decision-making and to develop best practice models of care. We will involve patients or their representatives, family members, clinicians and policy makers from different countries and healthcare systems across Europe to determine what the core outcomes should be. This will ensure that we create a set of outcomes that patients and clinicians value the most within IPF care.
Improving health-related quality of life in patients with rare autoimmune liver diseases by structured peer-delivered support: a transnational effectiveness-implementation hybrid trial
|Löwe, Bernd||University Medical Centre Hamburg-Eppendorf||Germany|
|Hirschfield, Gideon||University of Toronto||Canada|
|Geerts, Anja||Ghent University Hospital||Belgium, Flanders|
|Milkiewicz, Piotr||Medical University of Warsaw||Poland|
|Department of Gastroenterology, Institute of Internal Medicine, University|
of Debrecen (Debrecen, Nagyerdei
krt. 98., phone: +36-30-405-4993)
Rare diseases can have a substantial impact on quality of life, and psychosocial support needs of patients often go unmet. In a recent efficacy study, we showed that a newly developed psychosocial support program for patients with rare diseases led to improved quality of life and better acceptance of the disease (Depping et al. JAMA Psychiatry, 2021). The program is delivered by peers, i.e. other affected individuals. As the program is independent of patients’ location and disease, it has the potential to reach many individuals. However, it is not yet available to patients and its effectiveness needs to be confirmed under routine care conditions. Therefore, with the Q.RARE.LI study, we will evaluate the effectiveness of the program in routine care of five different countries and initiate the implementation. The effectiveness under routine care conditions will be analysed in 200 patients with rare autoimmune liver diseases in a randomised controlled study by comparing mental health-related quality of life and further outcomes between patients who receive the intervention in addition to care-as-usual and patients who just receive care-as-usual. We will also evaluate the implementability of the program in a survey and in focus group discussions with different stakeholders including patients, peer-counsellors and healthcare providers. Based on this, we will derive country-specific implementation strategies. Q.RARE.LI will pave the way for widely available psychosocial support for the rare disease community, which can be crucial for patients’ quality of life.
|Marshall, Deborah||University of Calgary, Calgary, Alberta, Canada||Canada|
|Minden, Kirsten||Deutsches Rheuma-Forschungszentrum Berlin||Germany|
|Saurenmann, Rotraut||Kantonsspital Winterthur||Switzerland|
|Anton Lopez, Jordi||Sant Joan de Déu||Spain|
|Uziel, Yosef||Sackler School of Medicine, Tel-Aviv University||Israel|
|Wouters, Carine||KU Leuven – University of Leuven||Belgium, Flanders|
|Patient Advocacy Organisation||Country|
|INBAR Israeli Arthritis Foundation||Israel|
|Cassie and Friends Society||Canada|
|European Network for Children with Arthritis and Autoinflammatory Diseases (ENCA)||France|
Building Support for Children and Families Affected by Stroke
|Kevdzija, Maja||Technische Universität Wien||Austria|
|Marquardt, Gesine||Technische Universität Dresden||Germany|
|Heylighen, Ann||Katholieke Universiteit Leuven||Belgium, Flanders|
|Bartha-Doering, Lisa||Medical University of Vienna||Austria|
|Patient Advocacy Organisation||Country|
Stiftung Deutsche Schlaganfall-Hilfe
(German Stroke Foundation) Schulstraße22,
+49 5241 977 019
Rue des Faînes
25/B002, 1120 Brussels
+32 479 513 983
+49 5746 93854-27
F + 49 5746 67599-98
Schlaganfallhilfe Österreich Hofriedengasse 27A,
+43 699 11494701
Childhood stroke permanently alters the life of children and their families as formal (e.g. hospital, rehabilitation clinic) and informal (e.g. home, neighbourhood) care continue for many years after stroke onset. We aim to, for the first time, investigate the role of the built environment in the everyday life of children and families affected by childhood stroke.
Our main research objectives are:
(1) to gain a profound understanding of how the built environment hinders and supports the everyday life of children with stroke and their families,
(2) to investigate how healthcare facilities are designed and adapted in use to care for those affected by childhood stroke,
(3) to examine the families’ direct and indirect financial burden of informal and formal care and
(4) to identify how the (re)design of built (health)care environments can be adequately informed about the experiences of those affected by childhood stroke.
Children and their families, healthcare professionals, and design practitioners will be included in the study with the use of semi-structured individual and focus group interviews, participatory methods attuned specifically to involve children, floor plan analysis of healthcare facilities and an international survey.
The findings of this project will inform the accommodation, design and delivery of care and improve the everyday life of children and families affected by childhood stroke. Participatory methods and close collaboration with Patient Advocacy Organisations will ensure the accessibility and broad applicability of the project results.
Growing into adulthood with Duchenne Muscular Dystrophy – comparing patient experiences and systems to optimize care
Kraus de Camargo, Olaf
Fondazione IRCCS Istituto Neurologico Carlo Besta
Transition has been identified as a crucial problem of healthcare delivery for patients with chronic diseases for decades. Despite the development of national and international guidelines for best practice, patients, caregivers and care providers often encounter organizational, cultural, administrative or policy barriers that make it challenging to realize the guidelines into practice.
For patients with Duchenne Muscular Dystrophy (DMD) the transition period is particularly challenging due to the loss of body functions during adolescence. DMD is a rare X-linked disease characterized by progressive muscle degeneration resulting in loss of ambulation and severe multisystem complications. DMD is the most prevalent neuromuscular disorder in children, with an estimated incidence of one in 3500 – 9300 live male births. After improvements in medical management, in particular respiratory and cardiac care, some patients now live beyond their third or fourth decade.
In this study, we will analyse the lived experience of DMD patients living in different countries with high quality medical systems but differing organizational and geographic structures. In a mixed methods design we will compare differences and similarities on the level of patients/caregivers and care organizations with regard to the realisation of transition guidelines. Through the identification of barriers and enablers we will develop a conceptual model and policy recommendations to improve the quality of transition and opportunities for participation for DMD patients which can be applied to other countries.
Changes in the Socio-economic Burden of Epidermolysis Bullosa in Europe
Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC)
Instituto de Investigación de Enfermedades Raras
Necker Enfants Malades Hospital
El Hachem, May
Ospedale Pediatrico Bambino Gesù
Health Economics Research Center
Patient Advocacy Organisation
DEBRA International, globales Epidermolysis bullosa Selbsthilfe-Netzwerk
Epidermolysis Bullosa (EB) is a rare genetic skin disorder with no cure that places an enormous social and economic burden on patients and their families. Studies on this burden are scarce.
This proposal (BUR-EB) aims to estimate the socio-economic burden of EB in 6 EU countries (Spain, France, Germany, Italy, Hungary and Bulgaria), and to compare it to data collected 10 years ago in the BURQOL-RD project. Data related to the impact of EB on every-day life will be collected from affected persons and their caregivers via an anonymous survey in collaboration with clinicians and patient organizations (DEBRA). The economic burden will take into account costs of healthcare and informal care, financial burden for families and productivity losses. Quality of life and family burden will be also measured.
Besides, affected persons will co-create a map of their trajectories of care and needs. Based on this, information materials will be developed to help patients and their families cope better with the illness.
BUR-EB offers an opportunity to observe how the social and economic impact of EB has changed over the last decade and how these changes could be related to the health and social policies implemented during that period. The project will provide tools that could be used in clinical studies of novel therapeutic options, health policies or interventions. BUR-EB is backed up by a balanced multidisciplinary group of internationally recognized clinical dermatologists, health economists, qualitative research experts, biostatisticians and representatives from patient organizations.
Evaluating Parent Perceptions, Economic Burden, and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome
Hospital for Sick Children
Gottfried Wilhelm Leibniz University of Hannover
University of Basel
Patient Advocacy Organisation
Relais 22 asbl (coordinator for 22q11 Europe)
The 22q11.2 deletion syndrome (22q11DS) is thought to be the most common microdeletion syndrome, with 1 out of 4,000 children having this condition. The health problems (i.e., cardiac defects, immune problems, neuropsychiatric disorders) associated with the 22q11DS strongly impact the quality of life of patients and their families. Using a multidisciplinary approach, the proposed research study aims to assess the socioeconomic impact of 22q11DS and to test the effects of an easy-to-access online coaching intervention designed to help reduce this impact for families. First, we will conduct an online survey with 500 parents of children with 22q11DS, aged 3-15 years. In the survey parents will be asked to provide information about their own and their children’s psychosocial wellbeing, barriers to care, and 22q11DS-related costs. For more in-depth information we will directly interview a subset of the parents. We expect that at least 200 parents completing the survey will indicate that their children’s psychosocial wellbeing is impacted by 22q11DS. Those parents will be eligible to be included in a trial. Specifically, the 200 parents will either receive an online coaching intervention designed by the research team or standard services as usual. If proven effective, the online coaching intervention will be an important addition to the health care services already in place for these families. This intervention model will also serve as a paradigm for how to best integrate online solutions into care for other rare diseases, helping to reduce their impact on families in general.
Impact of a neuro-cardiac rehabilitation program on the quality of life of children, adolescents and young adults with rare congenital heart disease: the multicentre randomized controlled QUALI-NEUROREHAB trial
University Hospital of Bordeaux
Saint-Luc University Hospital
Belgium, French-speaking community
The German heart center
University of Montpellier
Remarkable progress in paediatric cardiology and surgery have led to the substantial increase of congenital heart disease (CHD) survivors. Long-term outcomes in rare and complex CHD have become a critical priority as three major sources of morbidity have been identified in this population: neurodevelopmental sequelae, mental health issues and reduced exercise capacity. These challenges adversely affect their quality of life and constitute a major public health issue. We seek to evaluate the efficacy of the first integrative and holistic program in Neuro-Cardiac Health associating physical and psychological rehabilitation for children with rare CHD compared to the standard of care. Children randomly assigned to the intervention will undergo a 12-week neuro-cardiac intervention including home-based adaptive physical exercise, telehealth parent and child psycho-education and child computerized cognitive training, as well in-person individual sessions of intervention reinforcement. Parents will be actively involved and will receive personalized feedback and educational resources. Children assigned to the control group will receive the standard of care in congenital cardiology. Post-intervention effects will be measured after 12-months on several outcomes including health-related quality of life (HRQoL), trained and untrained cognitive skills, mental health outcomes and cardiovascular/physical variables.
Patient-reported, health economic and psychosocial outcomes in Friedreich Ataxia
German Center for Neruodegenerative Diseases (DZNE)
German Center for Neurodegenerative Diseases (DZNE)
Friedreich ataxia (FA) is the most common hereditary ataxia in Europe characterized by muscle weakness, sensory loss, imbalance, poor coordination and speech problems. Typical onset is before the age of 25 years. FA is associated with reduced quality of life and social inclusion and increased need for care, causing a tremendous psychosocial and economic burden. With this study, we aim to assess patient-reported and psychosocial outcomes as well as the economic impact of FA. The study will be conducted in six study centers (Germany, France, Austria) which are part of a large European Friedreich Ataxia Consortium. To gain in-depth insights into the everyday life of patients with FA, we will acquire patient-reported, health economic, and psychosocial data in real time using an e-health app. We will study (1) the acceptability, feasibility, and usability of the e-health app as a remote monitoring real-time data assessment tool, (2) the total societal costs, associated factors (cost drivers), and the impact of evidence-based treatments on costs, (3) the quality of life in FA, its associated factors and fluctuation, (4) the psychosocial impact of the communication handicap caused by speech and hearing disabilities as well as (5) interaction effects between these outcomes. This study will gain a comprehensive understanding of the economic, humanistic and societal burden of FA and identify determinants of health and social life and efficient use of healthcare resources, which is crucial to improve treatment, care, and everyday life of FA patients and their families.
Holistic mixed approaches to capture the real life of children with Rare Eye Diseases
Hôpitaux Universitaires de Strasbourg (HUS)
Le Breton, David
University of Strasbourg (UNISTRA)
University Hospital Bonn
Fondazione IRCCS Istituto Neurologico Carlo Besta
Leroy, Bart Peter
Ghent University Hospital
Lithuanian University of Health Sciences
Medical University of Lublin
In Europe, Rare Eye Diseases (RED) are the leading cause of severe visual impairment/blindness (SVI/B) in children. This sensory disability with its accompanying psychological distress hugely impacts their lives and their families. Understanding this impact is key in care, shared decision making, developing therapies, and improving social integration. However, current tools to evaluate vision related quality of life (VR-QoL) disregard age and cultural differences, while we lack knowledge on what aspects of this impact are important at the individual child’s level. Instruments capable of yielding high-quality data, with broad applicability and regulatory compliance, remain to be developed.
SeeMyLife convenes a multidisciplinary team from 6 EU countries to generate data on the experience of these children. We will combine quantitative (QUAN) and qualitative (QUAL) data in a mixed methods research framework. QUAN data will be generated using standardized, validated VR-QoL questionnaires. QUAL data will be generated from a socio-anthropologic study including semi-directive interviews to address how their disability affects lives. The conclusions of the QUAN study, comparable across several countries, will be reinforced by the richness of the individual data collected during the QUAL study.
SeeMyLife will provide tools for RED children/teenagers’ self-report which will be used in clinical care and research as a new European standard, and the long-awaited knowledge about the patient’s position within his/her own life course and within his/her family and healthcare actors.