Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases

Rare Diseases Clinical Trial

— ZSE-DUO  

Official title:

Duale Lotsenstruktur Zur Abklärung Unklarer Diagnosen in Zentren für Seltene Erkrankungen

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03563677
• Other study ID #: ZSE-DUO_V1
• Status: Completed
• Phase: N/A
• Start date: October 15, 2018
• Est. completion date: September 30, 2022

Study information

• Verified date: December 2023
• Source: Wuerzburg University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1379
• Est. completion date: September 30, 2022
• Est. primary completion date: January 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Orphan Diseases
• Rare Diseases

Intervention

Other:
• dual expert guidance structure
Two medical experts, one somatic specialist and one psychiatrist/psychosomatic specialist see all medical records and the patients together

Locations

Country	Name	City	State
Germany	Center for Rare Diseases ZSEA, University Hospital	Aachen
Germany	Center for Rare Diseases CeSER, St. Josef Hospital	Bochum
Germany	LWL-Universitätsklinikum der Ruhr-Universität	Bochum
Germany	Center for Rare Diseases FRZSE, UNiversity Hospital	Frankfurt
Germany	Center for Rare Diseases, Hannover Medical School	Hannover
Germany	Center for Rare Diseases MKSE, Otto von Guericke University	Magdeburg
Germany	Center for Rare Diseases, Medical Center	Mainz
Germany	Center for Rare Diseases, University Hospital	Muenster
Germany	Center for Rare Diseases ZSER, University Hospital	Regensburg
Germany	Center for Rare Diseases, University Hospital	Tuebingen
Germany	Center for Rare Diseases, University Hospital	Ulm
Germany	Center for Rare Diseases ZESE, University Hospital	Würzburg	Bavaria

Sponsors (18)

Lead Sponsor

Collaborator

Wuerzburg University Hospital

Allianz Chronischer Seltener Erkrankungen ACHSE e.V., AOK Hessen, Goethe University, Hannover Medical School, IKK gesund plus, LWL-Universitätsklinikum der Ruhr-Universität Bochum, Otto-von-Guericke University Magdeburg, St. Josef Hospital Bochum, Techniker Krankenkasse, Universität Münster, Universitätsklinikum Hamburg-Eppendorf, University Hospital Regensburg, University Hospital Tuebingen, University Hospital Ulm, University Hospital, Aachen, University Medical Center Mainz, University of Wuerzburg

Country where clinical trial is conducted

Germany, 

References & Publications (4)

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, Quitma — View 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. — View 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. — View 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) He — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnoses made	The number of diagnoses explaining the symptomatology of the patient made during the evaluation process	12 months after signing the consent form
Secondary	Time to diagnosis	The time it takes to make a diagnosis	12 months after signing the consent form
Secondary	Patient satisfaction with diagnostic process using ZUF-8	The patients' satisfaction with the diagnostic process is assessed in the total sample with the questionnaire ZUF-8 (Fragebogen zur Patientenzufriedenheit - patient satisfaction questionnaire) and in a randomly selected subsample of about 40 patients by structured telephone interviews.	12 months after signing the consent form
Secondary	Costs of the diagnostic process	estimated costs from first contact with the center for rare diseases until a diagnosis explaining the symptoms has been established	up to 12 months after signing the consent from
Secondary	Patients' quality of life using EQ-5D and SF12 (or KIDSCREEN-10 for children)	Change in the patients' quality of life as assessed with the Quality of life questionnaires EQ-5D from the EuroQoL Group in all patients and Short Form 12 (SF-12) in patients 16 years and older. In patients younger than 16 years, the health-related quality of life questionnaire for children and adolescents KIDSCREEN-10 is used.	12 months after signing the consent from
Secondary	Physician satisfaction with new form of care using new questionnaire	The satisfaction of physicians working in the Centers fro Rare Diseases with the new form of care compared to standard care will be assessed by a newly developed questionnaire administered to all physicians involved in patient care in the 11 centers. For the development of the questionnaire, 3 focus groups of 10 physicians each will be questioned.	30 months after the project start (end of the intervention period)
Secondary	Value of screening instruments for psychiatric-psychosomatic (co-)morbidities	Performance of screening tools to identify patients with psychiatric-psychosomatic comorbidities against the judgement of a psychiatrist/psychosomatic expert seeing the patient (intervention group only)	30 months after the project start (end of intervention period)