Clinical trial NCT03563677: Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
Official title: Duale Lotsenstruktur Zur Abklärung Unklarer Diagnosen in Zentren für Seltene Erkrankungen
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Rare Diseases
Orphan Diseases
Keywords: psychosomatic
unclear diagnosis
Lead sponsor: Wuerzburg University Hospital
Sponsor class: OTHER
Collaborators: name: Hannover Medical School
name: University Hospital, Aachen
name: Allianz Chronischer Seltener Erkrankungen ACHSE e.V.
name: Goethe University
name: Universität Münster
name: St. Josef Hospital Bochum
name: Otto-von-Guericke University Magdeburg
name: University Medical Center Mainz
name: University Hospital Regensburg
name: University Hospital Tuebingen
name: University Hospital Ulm
name: IKK gesund plus
name: Techniker Krankenkasse
name: University of Wuerzburg
name: Universitätsklinikum Hamburg-Eppendorf
name: AOK Hessen
name: LWL-Universitätsklinikum der Ruhr-Universität Bochum
First posted: 2018-06-20
Enrollment: 1379
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SEQUENTIAL
Intervention model description: Recruitment of 682 patients into control group during first 12 months of the project and, thereafter, recruitment of 682 patients during subsequent 12 months
Primary purpose: HEALTH_SERVICES_RESEARCH

Brief summary: In people suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis is often ongoing for many years. Factors contributing to delayed diagnosis include the limited knowledge of health care professionals about rare diseases and their symptoms but also a psychiatric or psychosomatic (co-)morbidity obscuring the symptoms of the rare disease. The project ZSE-DUO will evaluate whether a combination of an expert in somatic medicine and a psychiatric/psychosomatic specialist will increase the rate of assured diagnoses in patients approaching a center of rare diseases (primary outcome), accelerate the process until a diagnosis is made, reduce the costs of diagnosing a patient, and lead to a higher satisfaction of patients and health care professionals. Furthermore, the project will evaluate whether the use of psychosomatic screening tools at registration of a patient in a center for rare diseases will help to guide the diagnostic process. Two cohorts of 682 patients each will be sequentially recruited over 9 plus 9 months: the Control group cohort (CG based on somatic expertise) and the Experimental group cohort (EG combined psychosomatic/somatic expertise Included will be persons from the age of at least 12 years presenting with symptoms and signs which are not explained by current diagnoses (as judged by the patient's primary care physician and a specialized physician at the center for rare diseases ZSE evaluating the medical records). Patients will be recruited from 11 German Centers for Rare Diseases associated with University hospitals in the cities of Aachen, Bochum, Frankfurt, Hannover, Magdeburg, Mainz, Münster, Regensburg, Tübingen, Ulm and Würzburg. Recruitment will be supported by a collaboration with the German patient organization representing many rare disease organizations ACHSE e.V. and a collaboration with the insurance companies Techniker Krankenkasse, IKK gesund plus and AOK Hessen who also provide data on costs of care. Data collection and analysis will be coordinated and performed by the Institute for Clinical Epidemiology and Biometry at the University of Würzburg, the Institute for Epidemiology, Social Medicine and Science of Health Care Systems in Hannover, and the Department of Medical Psychology in Hamburg. The project is funded by the Innovationsfond of the Federal Joint Committee in Germany.


Eligibility criteria: Inclusion Criteria:

* first contact with the Center for Rare Diseases for unclear diagnosis
* suspicion of a rare disease but no established diagnosis
* attending the Center for Rare Diseases as an outpatient
* written informed consent

Exclusion Criteria:

* age \<12 years
* incomplete medical records including summary letters, imaging studies, blood tests etc.
* pre-diagnosed disease(s) explaining all symptoms

Primary outcomes:
measure: Diagnoses made
timeFrame: 12 months after signing the consent form
Secondary outcomes:
measure: Time to diagnosis
timeFrame: 12 months after signing the consent form
measure: Patient satisfaction with diagnostic process using ZUF-8
timeFrame: 12 months after signing the consent form
measure: Costs of the diagnostic process
timeFrame: up to 12 months after signing the consent from
measure: Patients' quality of life using EQ-5D and SF12 (or KIDSCREEN-10 for children)
timeFrame: 12 months after signing the consent from
measure: Physician satisfaction with new form of care using new questionnaire
timeFrame: 30 months after the project start (end of the intervention period)
measure: Value of screening instruments for psychiatric-psychosomatic (co-)morbidities
timeFrame: 30 months after the project start (end of intervention period)
Other outcomes:
Locations:
city: Würzburg
country: Germany
facility: Center for Rare Diseases ZESE, University Hospital
state: Bavaria
city: Aachen
country: Germany
facility: Center for Rare Diseases ZSEA, University Hospital
city: Bochum
country: Germany
facility: Center for Rare Diseases CeSER, St. Josef Hospital
city: Bochum
country: Germany
facility: LWL-Universitätsklinikum der Ruhr-Universität
city: Frankfurt
country: Germany
facility: Center for Rare Diseases FRZSE, UNiversity Hospital
city: Hannover
country: Germany
facility: Center for Rare Diseases, Hannover Medical School
city: Magdeburg
country: Germany
facility: Center for Rare Diseases MKSE, Otto von Guericke University
city: Mainz
country: Germany
facility: Center for Rare Diseases, Medical Center
city: Muenster
country: Germany
facility: Center for Rare Diseases, University Hospital
city: Regensburg
country: Germany
facility: Center for Rare Diseases ZSER, University Hospital
city: Tuebingen
country: Germany
facility: Center for Rare Diseases, University Hospital
city: Ulm
country: Germany
facility: Center for Rare Diseases, University Hospital
Study officials:
References:
citation: Schippers C, Volk D, de Zwaan M, Deckert J, Dieris-Hirche J, Herpertz S, Schulz JB, Hebestreit H; ZSE-DUO Arbeitsgruppe. [ZSE-DUO - dual guidance structure at the centre for rare diseases]. Inn Med (Heidelb). 2022 Jul;63(7):791-797. doi: 10.1007/s00108-022-01350-8. Epub 2022 Jun 2. German.
citation: Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gundel H, Herpertz S, Heuft G, Lapstich AM, Lucke T, Maisch T, Mundlos C, Petermann-Meyer A, Muller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tuscher O, Ungethum K, Wagner TOF, Haas K; ZSE-DUO working group. 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 J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1.
citation: Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tuscher O, Barlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graessner H, Gundel H, Heuft G, Lucke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov.
citation: Witt S, Kristensen K, Blomeke J, Hebestreit H, Wocker M, Pfister L, Bullinger M, Tuscher O, Deckert J, Graessner H, Lapstich AM, Zwaan M, Mundlos C, Quitmann JH. [Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study]. Psychother Psychosom Med Psychol. 2023 Jan;73(1):9-15. doi: 10.1055/a-1814-3998. Epub 2022 Jul 6. German.