Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients

1. 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. 2. 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

• The effect of Education & Care in RARE on expert-rating scales regarding participants' knowledge about rare diseases and competences to cope with rare-disease specific challenges, compared to a control group.
• The effect of Education & Care in RARE on generic Quality of Life and mental health well-being questionnaires, compared to a control group.
• Moderating effects (such as age, rare disease diagnosis, additional diagnosis) on the efficacy of Education & Care in RARE
• The long-term effect of Education & Care in RARE on participants' knowledge about rare diseases and on mental health well-being.
• Differences in Quality of Life and mental health well-being of children and adolescents with rare disease, compared to norm data.
• Since this is the first study on Education & Care in RARE, we will also evaluate the satisfaction with the intervention for the intervention groups and for the applying experts.