TY  - JOUR
A1  - Hebestreit, Helge
A1  - Zeidler, Cornelia
A1  - Schippers, Christopher
A1  - de Zwaan, Martina
A1  - Deckert, Jürgen
A1  - Heuschmann, Peter
A1  - Krauth, Christian
A1  - Bullinger, Monika
A1  - Berger, Alexandra
A1  - Berneburg, Mark
A1  - Brandstetter, Lilly
A1  - Deibele, Anna
A1  - Dieris-Hirche, Jan
A1  - Graessner, Holm
A1  - Gündel, Harald
A1  - Herpertz, Stephan
A1  - Heuft, Gereon
A1  - Lapstich, Anne-Marie
A1  - Lücke, Thomas
A1  - Maisch, Tim
A1  - Mundlos, Christine
A1  - Petermann-Meyer, Andrea
A1  - Müller, Susanne
A1  - Ott, Stephan
A1  - Pfister, Lisa
A1  - Quitmann, Julia
A1  - Romanos, Marcel
A1  - Rutsch, Frank
A1  - Schaubert, Kristina
A1  - Schubert, Katharina
A1  - Schulz, Jörg B.
A1  - Schweiger, Susann
A1  - Tüscher, Oliver
A1  - Ungethüm, Kathrin
A1  - Wagner, Thomas O. F.
A1  - Haas, Kirsten
T1  - 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
JF  - Orphanet Journal of Rare Diseases
N2  - 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.
KW  - rare diseases
KW  - multi‑center cohort study
KW  - dual guidance
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-300440
VL  - 17
IS  - 1
ER  -