Publisher DOI: 10.1186/s13023-022-02176-1
Title: 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
Language: English
Authors: Hebestreit, Helge 
Zeidler, Cornelia 
Schippers, Christopher 
de Zwaan, Martina 
Deckert, Jürgen 
Heuschmann, Peter 
Krauth, Christian 
Bullinger, Monika 
Berger, Alexandra 
Berneburg, Mark 
Brandstetter, Lilly 
Deibele, Anna 
Dieris-Hirche, Jan 
Graeßner, Holm 
Gündel, Harald 
Herpertz, Stephan 
Heuft, Gereon 
Lapstich, Anne-Marie 
Lücke, Thomas 
Maisch, Tim 
Mundlos, Christine 
Petermann-Meyer, Andrea 
Müller, Susanne 
Ott, Stephan 
Pfister, Lisa 
Quitmann, Julia  
Romanos, Marcel 
Rutsch, Frank 
Schaubert, Kristina 
Schubert, Katharina 
Schulz, Jörg Bernhard 
Schweiger, Susann 
Tüscher, Oliver 
Ungethüm, Kathrin 
Wagner, Thomas O. F. 
Haas, Kirsten 
metadata.local.contributorCorporate.other: ZSE-DUO Working Group 
Keywords: Cohort study; Mental health disorders; Rare diseases; Uncleardiagnosis; Undetermined symptoms
Issue Date: 14-Feb-2022
Publisher: BioMed Central
Journal or Series Name: Orphanet journal of rare diseases 
Volume: 17
Issue: 1
Abstract: 
Background

In 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 design

This multi-center, prospective controlled study has a two-phase cohort design.
Methods

Two 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).

Outcomes

Primary 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.

Conclusions

This 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.
URI: https://hdl.handle.net/20.500.12738/17218
ISSN: 1750-1172
Review status: This version was peer reviewed (peer review)
Institute: Universitätsklinikum Hamburg-Eppendorf 
Type: Article
Additional note: article number: 47 (2022)
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