Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients

NCT06729554 | Recruiting

• 2 other identifiers: 1870/2024 ethics committee Nr010270-FGÖ
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 7

Brief Summary

"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.

Conditions

Orphan Diseases; Rare Disorders; Pediatric Diseases; Inborn Errors of Metabolism Disorders

Keywords

Rare diseases; ultra-rare diseases; psychoeducation in pediatrics; psychoeducation for alle rare diseases; rare pediatric diseases; orphan diseases psychoeducation; rare disease burden; waiting list control study

Outcome Measures

Primary Outcomes (1)

• 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;

  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)

Secondary Outcomes (7)

• Rare Diseases Specific Expert-Rating Scale

  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

  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

  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

  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

  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)

Other Outcomes (3)

• Documentation of the program

  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

  IG: after inclusion WLG: after inclusion

• Demographic Data

  IG: after inclusion WLG: after inclusion

Study Arms (2)

Intervention Group (IG)

EXPERIMENTAL

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

Waiting List Control Group (WLG)

ACTIVE COMPARATOR

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

Interventions

Education & Care in RARE OTHER

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.

Intervention Group (IG); Waiting List Control Group (WLG)

Eligibility Criteria

• Age: 5 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Children and adolescents with a confirmed diagnosis of a rare disease with
• Age 5-20 years, corresponding to a developmental age of 5-18 years
• Existing medical care at a participating study center because of the rare disease
• Voluntary participation and informed consent
• Ability to complete the questionnaires
• Ability to actively participate the intervention (psychoeducation)

You may not qualify if:

• Moderate or severe cognitive impairment
• Simultaneous admission of the child / adolescent to a setting with high-frequency psychotherapeutic intervention (e.g. admission to psychosomatic medicine, child and adolescent psychiatry)
• No informed consent
• Language barrier of the child / adolescent
• Assumption that compliance is too low to attend all study appointments

Sponsors & Collaborators

• Medical University of Vienna: lead

Study Sites (7)

Medical University of Graz

Graz, Austria, 8010, Austria

RECRUITING

Medical University of Innsbruck

Innsbruck, Austria, 6020, Austria

RECRUITING

The Faculty of Medicine JKU Linz

Linz, Austria, 4020, Austria

RECRUITING

SALK PMU

Salzburg, Austria, 5020, Austria

RECRUITING

WIGEV Klinikum Favoriten

Vienna, Austria, 1100, Austria

RECRUITING

Ordensklinikum Linz

Linz, 4010, Austria

RECRUITING

Medical University of Vienna

Vienna, 1090, Austria

RECRUITING

Related Publications (23)

• Temizsoy H, Ozlu-Erkilic Z, Ohmann S, Sackl-Pammer P, Popow C, Akkaya-Kalayci T. Influence of Psychopharmacotherapy on the Quality of Life of Children with Attention-Deficit/Hyperactivity Disorder. J Child Adolesc Psychopharmacol. 2019 Aug;29(6):419-425. doi: 10.1089/cap.2018.0131. Epub 2019 Mar 29.

  PMID: 30925091 BACKGROUND

• Sackl-Pammer P, Ozlu-Erkilic Z, Jahn R, Karwautz A, Pollak E, Ohmann S, Akkaya-Kalayci T. Somatic complaints in children and adolescents with social anxiety disorder. Neuropsychiatr. 2018 Dec;32(4):187-195. doi: 10.1007/s40211-018-0288-8. Epub 2018 Sep 14.

  PMID: 30218392 BACKGROUND

• Sackl-Pammer P, Jahn R, Ozlu-Erkilic Z, Pollak E, Ohmann S, Schwarzenberg J, Plener P, Akkaya-Kalayci T. Social anxiety disorder and emotion regulation problems in adolescents. Child Adolesc Psychiatry Ment Health. 2019 Sep 30;13:37. doi: 10.1186/s13034-019-0297-9. eCollection 2019.

  PMID: 31583014 BACKGROUND

• Ohmann S, Popow C, Wurzer M, Karwautz A, Sackl-Pammer P, Schuch B. Emotional aspects of anorexia nervosa: results of prospective naturalistic cognitive behavioral group therapy. Neuropsychiatr. 2013;27(3):119-28. doi: 10.1007/s40211-013-0065-7. Epub 2013 Jun 18.

  PMID: 23775391 BACKGROUND

• Vodopiutz J, Schmook MT, Konstantopoulou V, Plecko B, Greber-Platzer S, Creus M, Seidl R, Janecke AR. MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy. Eur J Pediatr. 2015 Jan;174(1):113-8. doi: 10.1007/s00431-014-2463-7. Epub 2014 Dec 3.

  PMID: 25446406 BACKGROUND

• Breu M, Hafele C, Trimmel-Schwahofer P, Schmidt WM, Laconne F, Vodopiutz J, Male C, Dressler A. The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood. Epilepsia. 2021 Nov;62(11):2814-2825. doi: 10.1111/epi.17052. Epub 2021 Aug 28.

  PMID: 34453316 BACKGROUND

• Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. Br J Ophthalmol. 2013 Feb;97(2):169-73. doi: 10.1136/bjophthalmol-2012-302355. Epub 2012 Nov 10.

  PMID: 23143909 BACKGROUND

• Siegert S, Mindler GT, Brucke C, Kranzl A, Patsch J, Ritter M, Janecke AR, Vodopiutz J. Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. Genes (Basel). 2021 Oct 20;12(11):1648. doi: 10.3390/genes12111648.

  PMID: 34828254 BACKGROUND

• Walleczek NK, Forster K, Seyr M, Kadrnoska N, Kolar J, Wasinger-Brandweiner V, Vodopiutz J. Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management. Wien Med Wochenschr. 2021 Apr;171(5-6):94-101. doi: 10.1007/s10354-021-00820-2. Epub 2021 Mar 10.

  PMID: 33689085 BACKGROUND

• Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Muller T, Repa A, Pollak A, Aufricht C, Wilkie AO, Janecke AR. Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. J Pediatr. 2013 Mar;162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12.

  PMID: 23069192 BACKGROUND

• Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. Hum Mol Genet. 2013 Sep 15;22(18):3761-72. doi: 10.1093/hmg/ddt227. Epub 2013 May 23.

  PMID: 23704329 BACKGROUND

• McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17.

  PMID: 25492405 BACKGROUND

• Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

  PMID: 27231034 BACKGROUND

• Holt-Danborg L, Vodopiutz J, Nonboe AW, De Laffolie J, Skovbjerg S, Wolters VM, Muller T, Hetzer B, Querfurt A, Zimmer KP, Jensen JK, Entenmann A, Heinz-Erian P, Vogel LK, Janecke AR. SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394.

  PMID: 30445423 BACKGROUND

• Dundar M, Muller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

  PMID: 20004762 BACKGROUND

• Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.

  PMID: 30929739 BACKGROUND

• Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiss JO, Hahn A, Csaicsich D, Castro C, Assoum M, Muller T, Wieczorek D, Mancini GM, Sadowski CE, Levy N, Megarbane A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6.

  PMID: 26123727 BACKGROUND

• Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR. Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22.

  PMID: 27599773 BACKGROUND

• Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ. Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics. Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2.

  PMID: 25196272 BACKGROUND

• Waich S, Janecke AR, Parson W, Greber-Platzer S, Muller T, Huber LA, Valovka T, Vodopiutz J. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Clin Genet. 2020 Sep;98(3):282-287. doi: 10.1111/cge.13797. Epub 2020 Jul 7.

  PMID: 32557621 BACKGROUND

• Waich S, Roscher A, Brunner-Krainz M, Cortina G, Kostl G, Feichtinger RG, Entenmann A, Muller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e1-e6. doi: 10.1097/MPG.0000000000002149.

  PMID: 30589726 BACKGROUND

• Witt S, Kristensen K, Wiegand-Grefe S, Boettcher J, Bloemeke J, Wingartz C, Bullinger M, Quitmann J; und die CARE-FAM-NET Studiengruppe. Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany. Orphanet J Rare Dis. 2021 Nov 27;16(1):497. doi: 10.1186/s13023-021-02127-2.

  PMID: 34838091 BACKGROUND

• Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D. Rare Diseases in Europe: from a Wide to a Local Perspective. Isr Med Assoc J. 2016 Jun;18(6):359-63.

  PMID: 27468531 BACKGROUND

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MeSH Terms

Conditions

Rare Diseases

Interventions

Educational Status

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Socioeconomic Factors; Population Characteristics

Central Study Contacts

Julia Vodopiutz, MD apProf

CONTACT

+4314040032320; julia.vodopiutz@meduniwien.ac.at

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD ap Prof

Model Details: This study is a prospective, multicenter, randomized and controlled study with a waiting list. Intervention is psychoeducation using Education \& Care in RARE, a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases.

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: December 11, 2024
• Study Start: December 15, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2027
• Last Updated: May 13, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

AU (7)