Rare neurological diseases, rare neuromuscular diseases, rare pain disorders, rare gastroenterological diseases, rare dermatological diseases, rare cardiac diseases, rare renal diseases, rare cancer-predisposing syndromes, rare respiratory diseases, rare bone diseases, rare craniofacial malformations, rare genetic inner ear disorders, Klinefelter syndrome and variants, rare endocrine diseases, rare rheumatic diseases, rare immunodeficiencies, rare autoinflammatory diseases, rare autoimmune disea
Conditions
Interventions
Group 1: Intervention group - New form of care B(e) NAMSE: From immediately after T0 (baseline) until the end of the intervention period (January 2028), the intervention group receives the new form of
Sponsors
Vestische Kinder- und Jugendklinik Datteln, Universität Witten/Herdecke
Eligibility
Sex/Gender
All
Age
No minimum to 25 Years
Inclusion criteria
Inclusion criteria: Inclusion criteria for the efficacy study of the new form of care B(e) NAMSE: -No previous inclusion in the ongoing study -Age between 0 and 25 years -Statutory health insurance -Rare disease (concrete suspected or confirmed diagnosis) -Sufficient understanding of the German language -Need for secondary and tertiary prevention -Informed consent to participate in the efficacy study Additional inclusion criteria for the routine data analysis: -Insured with one of the participating health insurances -Informed consent to participate in the routine data analysis
Exclusion criteria
Exclusion criteria: -Withdrawal of informed consent to participate in the efficacy study -Death of the patient Additional exclusion criterion for the routine data analysis: -Withdrawal of informed consent to participate in the routine data analysis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The quality of the care process is measured using the Care Process Quality Assessment for Rare Diseases (EQUALISE). To evaluate the effectiveness of the new form of care B(e) NAMSE, the quality of the care process prior to the start of the intervention (T0 – baseline) is compared with the quality after the intervention (T1 – primary comparison point, T0 +6 months) using a waiting-list control group. The EQUALISE is completed as a proxy-report by parents or a legal guardian for patients aged 17 or younger and as a self-report for adult patients. If adult patients are unable to complete the questionnaires independently, the EQUALISE is completed by a legal guardian. The survey is conducted exclusively online. The EQUALISE was developed and validated based on the “Consumer Assessments of Healthcare Providers and Systems (CAHPS)” of the Agency for Health Care Research and Quality (Hays et al., 1999; Homer et al., 1999) and a systematic literature review. The EQUALISE is tailored to patients with rare diseases. | — |
Secondary
| Measure | Time frame |
|---|---|
| All secondary outcomes for evaluating the effectiveness of the new form of care B(e) NAMSE are assessed at T0 and T1, analogous to the primary outcome. Depending on the inclusion time relative to the end of the study (June 30, 2028), additional surveys on both the primary and secondary outcomes are conducted 12 (T2), 18 (T3), and 24 (T4) months after T0 to capture long-term effects. If patients are unable to complete the questionnaires themselves, proxy-reports are obtained from parents or a legal guardian for patients aged 17 or younger and from a legal guardian for adult patients. Patients (if able to complete the questionnaires independently): Functional limitations: School and work absence days from RUCA-RD - Resource Utilization in Children and Adolescents with Rare Diseases (adapted version of the TIC-P - Treatment Inventory of Costs in Patients with Psychiatric disorders (Bouwmans et al., 2013; Kanters et al., 2019)) – Self-report from age 18 Symptom burden: Adapted distress thermometer (Mehnert et al., 2006) with free text entry of the three most common symptoms experienced in the last four weeks, with an indication of severity on a NRS from 0 to 10 – Self-report from age 12 Dental care - Toothbrushing: Items from the KiGGS-Study – German Study on the Health of Children and Adolescents (RKI, 2003) – Self-report from age 12 - Dental visits: Items from the KiGGS-Study (RKI, 2003) – Self-report from age 18 Physical activity: Items from the KiGGS-Study (RKI, 2003) – Self-report from age 12 Nutrition: Items from the HBSC-Study (Currie et al., 2014) – Self-report from age 8 Sleep: rASWS - revised Adolescents Sleep-Wake Scale – German Version (Sommer et al., 2021) – Self-report from age 8 Quality of life, coping with illness, and coping strategies: DISABKIDS DCGM-12 - DISABKIDS Chronic Generic Measure (Schmidt et al., 2006) – Self-report from age 8 Mental health – anxiety and depression: RCADS 11 - Revised Children’s Anxiety and Depression Scale (Chorpi | — |
Countries
Germany
Contacts
Public ContactSvenja Schwanold
PedScience Vestische Forschungs-gGmbH
Outcome results
None listed