Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study

Orphanet Journal of Rare Diseases

Christine Mundlos¹  Anne-Marie Lapstich²  Christian Krauth²  Kristina Schaubert²  Helge Hebestreit³  Lisa Pfister³  Jürgen Deckert⁴  Tim Maisch⁵  Mark Berneburg⁵  Cornelia Zeidler⁶  Christopher Schippers⁷  Jörg B. Schulz⁸  Katharina Schubert⁹  Oliver Tüscher^1,10  Susann Schweiger^1,11  Holm Graessner^1,12  Stephan Ott^1,13  Julia Quitmann^1,14  Monika Bullinger^1,14  Marcel Romanos^1,15  Frank Rutsch^1,16  Andrea Petermann-Meyer^1,17  Susanne Müller^1,18  Gereon Heuft^1,19  Martina de Zwaan^2,20  Jan Dieris-Hirche^2,21  Stephan Herpertz^2,21  Anna Deibele^2,22  Harald Gündel^2,23  Alexandra Berger^2,24  Thomas O. F. Wagner^2,24  Lilly Brandstetter^2,25  Kathrin Ungethüm^2,25  Peter Heuschmann^2,25  Kirsten Haas^2,25  Thomas Lücke^2,26 

[1] Allianz Chronischer Seltener Erkrankungen (ACHSE) e.V., c/o DRK Kliniken Berlin Mitte, Dronheimer Str. 39, 13359, Berlin, Germany;ACHSE e.V., Berlin, Germany;Center for Health Economics Research Hannover and Institute for Epidemiology, Social Medicine and Health Systems Research, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany;Center for Rare Diseases - Reference Center Northern Bavaria (ZESE), University Hospital Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Germany;Center for Rare Diseases - Reference Center Northern Bavaria (ZESE), University Hospital Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Germany;Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital, Margarete-Höppel-Platz 1, 97080, Würzburg, Germany;Center for Rare Diseases Regensburg, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany;Center for Rare Diseases, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany;Center for Rare Diseases, RWTH Aachen University Hospital, Pauwelsstraße 30, 52074, Aachen, Germany;Center for Rare Diseases, RWTH Aachen University Hospital, Pauwelsstraße 30, 52074, Aachen, Germany;Department of Neurology, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany;Central German Competence Network for Rare Diseases, University Hospital Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Germany;Centre for Rare Disease and Department of Psychiatry and Psychotherapy, University Medical Center, Johannes Gutenberg University, 55131, Mainz, Germany;Centre for Rare Disease and Institute for Human Genetics, University Medical Center, Johannes Gutenberg University, 55131, Mainz, Germany;Centre for Rare Disease, University Hospital Tübingen, Calwerstr. 7, 72076, Tübingen, Germany;Centre for Rare Disease, University Hospital Tübingen, Calwerstr. 7, 72076, Tübingen, Germany;Department of Psychosomatics and Psychotherapy, University Hospital Tübingen, Osianderstraße 5, 72076, Tübingen, Germany;Department for Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany;Department of Child Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Würzburg, Margarete-Höppel-Platz 1, 97080, Würzburg, Germany;Department of General Pediatrics, Muenster University Children’s Hospital and Center for Rare Diseases, Muenster University Hospital, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany;Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Section Psychooncology, Center for Integrated Oncology – Aachen, Medical Faculty, RWTH Aachen University, Aachen, Germany;Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany;Department of Psychosomatic Medicine Und Psychotherapy, University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany;Department of Psychosomatic Medicine and Psychotherapy, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany;Department of Psychosomatic Medicine and Psychotherapy, LWL-University Clinic, Ruhr-University Bochum, Alexandrinenstraße 1-3, 44791, Bochum, Germany;Department of Psychosomatic Medicine and Psychotherapy, University Hospital Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Germany;Department of Psychosomatic Medicine and Psychotherapy, University Hospital Ulm, Albert.-Einstein-Allee 23, 89081, Ulm, Germany;Frankfurt Reference Centre for Rare Diseases, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany;Institute of Clinical Epidemiology and Biometry, University of Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Germany;University Hospital of Pediatrics and Adolescent Medicine, Ruhr-University Bochum, Alexandrinenstr. 5, 44791, Bochum, Germany;

关键词: Rare diseases;    Undetermined symptoms;    Unclear diagnosis;    Mental health disorders;    Cohort study;   

DOI  :  10.1186/s13023-022-02176-1

来源: Springer

【 摘 要 】

BackgroundIn individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care professionals' limited knowledge of rare diseases and frequent (co-)occurrence of mental disorders that may complicate and delay the diagnostic process. The ZSE-DUO study aims to assess the benefits of a combination of a physician focusing on somatic aspects with a mental health expert working side by side as a tandem in the diagnostic process.Study designThis multi-center, prospective controlled study has a two-phase cohort design.MethodsTwo cohorts of 682 patients each are sequentially recruited from 11 university-based German Centers for Rare Diseases (CRD): the standard care cohort (control, somatic expertise only) and the innovative care cohort (experimental, combined somatic and mental health expertise). Individuals aged 12 years and older presenting with symptoms and signs which are not explained by current diagnoses will be included. Data will be collected prior to the first visit to the CRD’s outpatient clinic (T0), at the first visit (T1) and 12 months thereafter (T2).OutcomesPrimary outcome is the percentage of patients with one or more confirmed diagnoses covering the symptomatic spectrum presented. Sample size is calculated to detect a 10 percent increase from 30% in standard care to 40% in the innovative dual expert cohort. Secondary outcomes are (a) time to diagnosis/diagnoses explaining the symptomatology; (b) proportion of patients successfully referred from CRD to standard care; (c) costs of diagnosis including incremental cost effectiveness ratios; (d) predictive value of screening instruments administered at T0 to identify patients with mental disorders; (e) patients’ quality of life and evaluation of care; and f) physicians’ satisfaction with the innovative care approach.ConclusionsThis is the first multi-center study to investigate the effects of a mental health specialist working in tandem with a somatic expert physician in CRDs. If this innovative approach proves successful, it will be made available on a larger scale nationally and promoted internationally. In the best case, ZSE-DUO can significantly shorten the time to diagnosis for a suspected rare disease.Trial registration ClinicalTrials.gov; Identifier: NCT03563677; First posted: June 20, 2018, https://clinicaltrials.gov/ct2/show/NCT03563677.

【 授权许可】

CC BY