An interventional study of Education & Care in RARE in Orphan Diseases, Rare Disorders and Pediatric Diseases, sponsored by Medical University of Vienna. Recruiting at 7 sites in Austria. Open to participants aged 5 Years to 20 Years. Per ClinicalTrials.gov, last updated 2026-07-28.
Sponsored by Medical University of Vienna · Not applicable, Interventional, and Treatment
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people. Rare diseases predominantly affect children and adolescents and are associated with high medical and psychosocial burden of disease.
The investigators invented Education \& Care in RARE - a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases.
This study is a prospective, multicenter, randomized and controlled study with a waiting list. Aim of the study is to investigate the efficacy of Education \& Care in RARE on knowledge about rare diseases and on mental health well-being in pediatric rare disease patients, compared to a control group.
In this study participants are randomized in an intervention group and a waiting list control group. Both study groups thus receive the psychoeducation with Education \& Care in RARE and complete the identical questionnaires. Compared to the Intervention group, the waiting list control group receives the intervention with a time delay (8-12 weeks later) and has one additional appointment for questionnaire evaluation before start of the psychoeducation.
Background 1.1. Rare diseases Rare diseases are defined as serious diseases which affect only a very small number of people compared to the general population. The more than 8.000 different rare diseases most often affect children and encompass an enormous heterogenous clinical spectrum associated mostly with a chronic or progressive disease course. In addition to the clinical and economic burden of a chronic disease, patients with rare diseases faces also the "rare disease burden" which describes associated problems caused by rarity of the disease. 1-3While advances in rare disease research have significantly improved the diagnostic and therapeutic strategies in rare diseases, psychosocial care is still not part of routine care in rare diseases. 4 1.2. Own previous work The investigator team is highly experienced in both, the molecular characterization 5-16 and the clinical care 17-21 of rare and ultra-rare diseases and in psychosocial care 22-27 of pediatric patients in acute and chronic stress situations. Based on this experience the investigators developed a psycho-educational intervention program for children and adolescents affected by a rare disease named "Education \& Care in RARE" Figure 1.
Education \& Care in RARE (https://www.youtube.com/watch?v=R3fr-q-6JIw) is a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases. It promotes knowledge and competence on rare diseases in children in order to reduce the psychosocial rare disease burden and to improve individual self-competence in managing the rare disease and to improve their quality of life. Education \& Care in RARE can be used for all pediatric rare diseases. This has the great advantage that users only need to be trained in the use of one program. Figure 1 Education \& Care in RARE is used during clinical care at the outpatient clinic for clinical genetics, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology. Education \& Care in RARE is currently not available in routine care outside of this specialized outpatient clinic. Affected children who have completed Education \& Care in RARE during clinical care, have rated this as a very helpful and supportive program. To date, there has been no study on the effectiveness of Education \& Care in RARE.
Aims and hypotheses of the study 2.1. Aims This study aims to investigate the efficacy of Education \& Care in RARE on knowledge about rare diseases and on mental health well-being in pediatric rare disease patients.
As a primary objective the investigators will evaluate
> The effect of Education \& Care in RARE on participants' self-rating scales regarding knowledge about rare diseases and well-being, compared to a control group.
As secondary objectives the investigators will evaluate
2.2. Hypotheses
Specifically, the investigators will test the following hypotheses:
Primary hypothesis:
Secondary hypotheses:
H6: Rare diseases affect Quality of Life (KINDLR self-report, KINDLR third-party-report) and mental-health well-being (SDQR self-report, SDQR third-party-report,) in pediatric rare disease patients, at T0 in the intervention and in the waitlist control group, compared to norm data.
Originality and scientific innovation
During a 6-year period, from 2018-2024 at MUW, based on the expertise of a highly specialized, multiprofessional and multidisciplinary expertise team, the investigators invented Education \& Care in RARE:
https://www.youtube.com/watch?v=R3fr-q-6JIw Education \& Care in RARE is the first targeted psychoeducational program which can be applied in all 8.000 rare diseases. This has the great advantage that users only need to be trained in the use of one program.
Education \& Care in RARE is a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases. It promotes knowledge and competence on rare diseases in children in order to reduce the psychosocial rare disease burden and to improve individual self-competence in managing the rare disease and to improve their quality of life. Education \& Care in RARE can be used for all pediatric rare diseases.
4.2. Intervention
Intervention in this study is a targeted psychoeducation for pediatric rare diseases using Education \& Care in RARE. To enable standardized application of the intervention, the implementation and objectives of the intervention using Education \& Care in RARE are defined as followed:
4.2.1. Standardization - application of the intervention
4.2.2. Standardization - aims of the intervention
Basic learning objectives of the intervention, which should be achieved by the intervention are defined as followed:
Establishment of 3 names for the rare disease
4.4. Statistical analyses, sample size 4.4.1. Statistical analysis Statistical analysis was planned in cooperation with the Institute of Medical Statistics Center for Medical Data Science, Medical University of Vienna.
First a t-test will be applied to test the primary objective: differences of participants' knowledge and well-being (Rare Disease Specific Self-Rating Scale) between the study time points T0 and T1, in the intervention group compared to the waitlist control group. For both groups, mean values and standard deviations will be reported. In case of a skewed distribution, a Wilcoxon test will be computed and median and interquartile range will be reported. The significance level will be set to 0.05. In case of missing values for study time point T1, for the primary analysis, only available cases will be considered. A sensitivity analysis will be performed to compare baseline data of patients with complete data and patients with missing data (descriptive statistics as only a small number of missing values is expected).
Tests for secondary endpoints: H2, H3 and H5 (difference in change in expert-rating scales, Quality of Life and mental health well-being, competences and mental health well-being) are analyzed in the same manner as the primary objective. To analyze the independent variables age, educational level and intellectual ability on the change in "Rare Disease Specific Self-Rating Scale", first univariate analyses of covariances (Ancova) will be computed and second a multiple Ancova will be performed with independent variables age, educational level and intellectual ability and group. For the secondary analyses, the significance level will be set to 0.05. No adjustment for multiplicity will be performed and p-values will be interpreted descriptively.
Descriptive statistics will be used to summarize baseline characteristics of recruited participants. Baseline characteristics will be presented in a table for the full enrolled sample. In order to test differences at baseline between the two groups with regard to theoretical and practical knowledge, as well as emotion t-tests for independent samples will be performed. The satisfaction with the Education \& Care in RARE program for the intervention groups and for the applying experts (Patient Evaluation of the Education \& Care in RARE program, at T1 and T2). Categorical variables will be presented in absolute frequencies and percentages. Continuous variables will be listed in means and standard deviations and will be presented in tables. Statistical analysis will be performed using SPSS 24 (IBM Corporation, Armonk, NY, USA).
4.4.2. Sample size calculation Sample size calculation was done for the primary study outcome "differences of participants' self-rating scales regarding knowledge about rare diseases and well-being (Rare Disease Specific Self-Rating Scale), before and after intervention with Education \& Care in RARE". Sample size estimation was evaluated using R (Version 4.4.1, library pwr). We based the sample size calculation on parameters derived from some internal pilot data where we observed a standard deviation of 0.55 for the change between T0 and T1 (intervention group). However, as the study population will be very heterogenous (for example over 8.000 potential different rare diseases, high variability of knowledge on the underlying rare disease in the study population…) we consider more conservative estimates for the sample size calculation. These estimates should be considered as vague approximations. Thus, assuming that the standard deviation is equal for the intervention and the control group we performed several sample size calculations for standard deviations 0.55, 0.8, and 1 and several effect sizes (difference of differences) for a two-tailed t-test for independent groups (significance level 0.05 and power 0.8). The results can be found below. Based on this, sample size estimates indicate that we will be able to detect a difference of differences of 0.5 when the standard deviation of the difference in both groups is 0.8 with a sample size of 49 participants in each group and considering a dropout rate of 15%.
4.4.3. Methods of preventing bias Participants will be randomized using an online-randomization (https://www.meduniwien.ac.at/web/mitarbeiterinnen/it-hilfe-support/it4science/plattformen/randomizer/).
Patients will be randomized in blocks with random block lengths between 4 and 8 and stratified for center.¬¬ 4.4.5. Recruiting This prospective randomized controlled trial will be performed at several pediatric centers in Austria, which are involved in the diagnostics and care of pediatric rare diseases patients. In participating centers, during routine check-ups, patients who meet the inclusion and exclusion criteria, are invited to take part in the study.
Patients and their legal guardians are informed in detail about the study by the treating doctors or psychologist during a personal interview. There is written project information for children and adolescents of different age groups (age in years: 8-10, 11-14, 15-18, more than 18 years) and for parents/caregivers. If there are no more questions, written consent is obtained.
203 studies on the registry are indexed under Rare Diseases; 112 are open to participants now.
This study's planned enrollment of 100 is above the median of 57 across 71 interventional studies indexed under Rare Diseases.
Browse Rare Diseases studies →Medical University of Vienna is the lead sponsor of 1,076 studies on the registry; 177 are open to participants now.
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Exclusion Criteria:
Participants are randomized in an intervention group (IG) and a waiting list control group (WLG). The IG receive the intervention with Education \& Care in RARE (all children) and complete the identical questionnaires (all children and their legal guardians) immedeately after inclusion.
Other: Education & Care in RARE
Compared to the IG, the WLG receives the intervention with Education \& Care in RARE with a time delay (8-12 weeks later) and has one additional appointment for questionnaire evaluation before start of the intervention.
Other: Education & Care in RARE
Education \& Care in RARE (https://www.youtube.com/watch?v=R3fr-q-6JIw) is a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases. It promotes knowledge and competence on rare diseases in children in order to reduce the psychosocial rare disease burden and to improve individual self-competence in managing the rare disease and to improve their quality of life. Education \& Care in RARE can be used for all pediatric rare diseases. This has the great advantage that users only need to be trained in the use of one program.
Rare Disease Specific Self-Rating Scale
Description: The Rare Disease Specific Self-Rating Scale is defined as primary outcome measurement of this study. The Rare Disease Specific Self-Rating Scale provides 10 items to assess rare disease specific knowledge and well-being in children and adolescents and uses a Six-Point Smiley Faces Likert Scale as a global subjective outcome scale for children assessment. For the primary hypothesis, a mean value of the 10 items is computed for each participant. The Rare Disease Specific Self-Rating Scale covers specific topics on Rare Diseases which are not covered by the generic research instruments of this study. Outcome Measurements: Knowledge about rare diseases; Well-being Items; Scale level: 10 items; 6-Point Smiley Faces Likert Scale; sum total score 10-60;
Time frame: IG: T0 (at inclusion), T1 (after intervention), T2 (3 to 6 months after T1); WLG: T0 (at inclusion), T1 (2-3 months after T0), T2 (after intervention), T3 (3 to 6 months after T2)
Rare Diseases Specific Expert-Rating Scale
Description: The Rare Disease Specific Expert-Rating Scale provides 12 items on participants' knowledge about rare diseases and on competences to cope with rare disease specific challenges and uses a Six-Point Smiley Faces Likert Scale as a global subjective outcome scale for expert assessment. For the analyses, a mean value of the 12 items is computed for each participant Outcome measurements: Knowledge about rare diseases, Competences to cope with rare disease specific challenges Items; Scales: 12 items; 6-Point Smiley Faces Likert Scale; sum total score 12-72
Time frame: IG: T0 (at inclusion), T1 (after intervention), T2 (3 to 6 months after T1); WLG: T0 (at inclusion), T1 (2-3 months after T0), T2 (after intervention), T3 (3 to 6 months after T2)
SDQ Strengths and Difficulties Questionnaire self-report
Description: The SDQ Strengths and Difficulties Questionnaire (https://www.sdqinfo.org/a0.html) is a brief behavioral screening questionnaire in children and adolescents and provide 25 items on psychological attributes and includes a self-report version and a third-party survey version. There are two versions of the SDQ for two different age and development stages. A self-report version and a third-party survey version are offered for each age version of the SDQ. Norm values for different nationalities including German is available. Outcome Measurements: Mental health well-being - self-report Items; Scale level: 25 items; 3-Point Likert Scale; sum total score 25-75
Time frame: IG: T0 (at inclusion), T1 (after intervention), T2 (3 to 6 months after T1); WLG: T0 (at inclusion), T1 (2-3 months after T0), T2 (after intervention), T3 (3 to 6 months after T2)
SDQ Strengths and Difficulties Questionnaire, third- party-report
Description: The SDQ Strengths and Difficulties Questionnaire (https://www.sdqinfo.org/a0.html) is a brief behavioral screening questionnaire in children and adolescents and provide 25 items on psychological attributes and includes a self-report version and a third-party survey version. There are two versions of the SDQ for two different age and development stages. A self-report version and a third-party survey version are offered for each age version of the SDQ. Norm values for different nationalities including German is available. Outcome Measurements: Mental health well-being - third-party-report Items; Scale level: 25 items; 3-Point Likert Scale; sum total score 25-75
Time frame: IG: T0 (at inclusion), T2 (3 to 6 months after T1, T1 is defined as time point immideately after intervention); WLG: T0 (at inclusion), T1 (2-3 months after T0), T3 (3 to 6 months after T2, T2 is defined as time point immideately after intervention)
KINDL self-report
Description: The KINDL (https://www.kindl.org/english/) is a standardized questionnaire for the assessment of quality of life in children and adolescents and provides 24 items. The KINDL thus is a short, methodologically suitable, psychometrically sound and flexible measure of Health-Related Quality of Life in children and adolescents. There are three versions of the KINDL for different age and development stages. A self-report version and a third-party survey version are offered for each age version of the KINDL. Norm values are given based on representative German data from the German National Health Interview and Examination Survey for Children and Adolescents (KiGGS). The KiGGS study is a broad survey realized by the German-Robert-Koch-Institute. Outcome Measurements: Quality of life - self-report Items; Scale level: 24 items; 3-Point Likert Scale; sum total score 24-72
Time frame: IG: T0 (at inclusion), T1 (after intervention), T2 (3 to 6 months after T1); WLG: T0 (at inclusion), T1 (2-3 months after T0), T2 (after intervention), T3 (3 to 6 months after T2)
KINDL third-party-report
Description: The KINDL (https://www.kindl.org/english/) is a standardized questionnaire for the assessment of quality of life in children and adolescents and provides 24 items. The KINDL thus is a short, methodologically suitable, psychometrically sound and flexible measure of Health-Related Quality of Life in children and adolescents. There are three versions of the KINDL for different age and development stages. A self-report version and a third-party survey version are offered for each age version of the KINDL. Norm values are given based on representative German data from the German National Health Interview and Examination Survey for Children and Adolescents (KiGGS). The KiGGS study is a broad survey realized by the German-Robert-Koch-Institute. Outcome Measurements: Quality of life - third-party-report Items; Scale level: 24 items; 3-Point Likert Scale; sum total score 24-72
Time frame: IG: T0 (at inclusion), T2 (3 to 6 months after T1, T1 is defined as time point immideately after intervention); WLG: T0 (at inclusion), T1 (2-3 months after T0), T3 (3 to 6 months after T2, T2is defined as time point immideately after intervention)
Patients' evaluation of the Education & Care in RARE Program
Description: The Patient Evaluation of the Education \& Care in RARE program provides 3 items to assess attractiveness, helpfulness, and recommendability of the program and uses a Six-Point Smiley Faces Likert Scale as a global subjective outcome scale for expert assessment. Outcome Measurements: Program evaluation by patients: attractiveness; helpfulness; recommendability; Items; Scale level: 3 items, 6-Point Smiley Faces Likert Scale; descriptive
Time frame: IG: T1 (after intervention); WLG T2 (after intervention)
Expert Evaluation of the Education & Care in RARE program
Description: The Expert Evaluation of the Education \& Care in RARE program provides 10 items to assess the degree of achievement of specific psychosocial therapeutic goals of the program and uses a Three-Point Likert Scale as a global subjective outcome scale for expert assessment. As no guidelines for the psychosocial care in rare diseases exists - the defined items are adapted according to S3 Guideline Psychosocial care in pediatric oncology and hematology and include following psychosocial goals: Gaining information; Promoting the ability to act and co-operation; Strengthening the individual resources competences and autonomy; Promotion of coping strategies; Strengthening self-esteem; Supporting open communication; Promoting verbal and non-verbal expression; Promotion of understanding of the illness; Promoting the best possible health-related quality of life and mental health; Reduction of fear, powerlessness; Items: Scale: 10 items, 3-Point Likert Scale; descriptive
Time frame: IG: T1 (after intervention); WLG T2 (after intervention)
Documentation of the program
Documentation of the program provides number of sessions and levels of the Education \& Care in RARE program in each participant. Items; Scales: 2 items, descriptive
Time frame: IG: T2 (at last follow up, 3 to 6 months after T1, T1 is defined as time point immediately after intervention); WLG: T3 (last follow up, 3 to 6 months after T1, T1 is defined as time point immediately after intervention))
Medical Data
Medical Data asses medical data of study participants including Rare disease diagnosis Secondary conditions Developmental age Visibility of a rare disease Type of visibility of a rare disease Type of diagnostic confirmation Life-threatening rare disease Age at rare disease diagnosis Time of diagnostic odyssey Existence of an emergency card or a rare disease card Items; Scales: 10 items, descriptive
Time frame: IG: after inclusion WLG: after inclusion
Demographic Data
Participants sociodemographic data including Patient's age, sex, school form, language skills, mother language, multilingualism; Parents' education and language skills; Items; Scales: 8 items, descriptive
Time frame: IG: after inclusion WLG: after inclusion
Plan to share: No
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