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

Duale Lotsenstruktur Zur Abklärung Unklarer Diagnosen in Zentren für Seltene Erkrankungen


Lead Sponsor: Wuerzburg University Hospital

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

Source Wuerzburg University Hospital
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.

Overall Status Recruiting
Start Date October 15, 2018
Completion Date March 31, 2022
Primary Completion Date September 30, 2021
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Diagnoses made 12 months after signing the consent form
Secondary Outcome
Measure Time Frame
Time to diagnosis 12 months after signing the consent form
Patient satisfaction with diagnostic process using ZUF-8 12 months after signing the consent form
Costs of the diagnostic process up to 12 months after signing the consent from
Patients' quality of life using EQ-5D and SF12 (or KIDSCREEN-10 for children) 12 months after signing the consent from
Physician satisfaction with new form of care using new questionnaire 30 months after the project start (end of the intervention period)
Value of screening instruments for psychiatric-psychosomatic (co-)morbidities 30 months after the project start (end of intervention period)
Enrollment 1364

Intervention Type: Other

Intervention Name: dual expert guidance structure

Description: Two medical experts, one somatic specialist and one psychiatrist/psychosomatic specialist see all medical records and the patients together

Arm Group Label: New Innovative Care



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

Gender: All

Minimum Age: 12 Years

Maximum Age: N/A

Healthy Volunteers: No

Overall Contact

Last Name: Helge Hebestreit, MD

Phone: +49 931 201 27889

Email: [email protected]

Facility: Status: Contact: Contact Backup:
Center for Rare Diseases ZESE, University Hospital | Würzburg, Bavaria, 97080, Germany Recruiting Helge Hebestreit, MD +49 931 201 27889 [email protected]
Center for Rare Diseases ZSEA, University Hospital | Aachen, 52074, Germany Recruiting Christopher Schippers, Dr. +49 241 80 85651 [email protected]
Center for Rare Diseases CeSER, St. Josef Hospital | Bochum, 44791, Germany Recruiting Marion Morzuch + 49 234 509 2601 [email protected]
Center for Rare Diseases FRZSE, UNiversity Hospital | Frankfurt, 60590, Germany Recruiting Thomas OF Wagner, Prof. Dr. +49 69 6301 84318 [email protected]
Center for Rare Diseases, Hannover Medical School | Hannover, 30625, Germany Recruiting Cornelia Zeidler +49 511 557105 [email protected]
Center for Rare Diseases MKSE, Otto von Guericke University | Magdeburg, Germany Recruiting Klaus Mohnike, Prof. Dr. +49 345 1325 9595 [email protected]
Center for Rare Diseases, Medical Center | Mainz, 55131, Germany Recruiting Oliver Tüscher, Prof. Dr. +49 6131 17 2596 [email protected]
Center for Rare Diseases, University Hospital | Muenster, 48149, Germany Recruiting Frank Rutsch, Prof. Dr. +49 2 51 83 47 700 [email protected]
Center for Rare Diseases ZSER, University Hospital | Regensburg, 93053, Germany Recruiting Mark Berneburg, Prof. Dr. +49 941 944-9696 [email protected]
Center for Rare Diseases, University Hospital | Tuebingen, 72076, Germany Recruiting Jutta Eymann +49 7071 29 85170 [email protected]
Center for Rare Diseases, University Hospital | Ulm, 89075, Germany Recruiting Bettina Hilbig +49 731 500-57080 [email protected]
Location Countries


Verification Date

June 2020

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Usual care

Type: No Intervention

Description: Standard evaluation process for patients approaching a center for rare diseases with an unclear diagnosis. The process includes the evaluation of complete medical records byan experienced physician, an outpatient visit to the center, and case discussion between experts. The process may also include an inpatient stay, a local case conference and a case conference between centers for rare diseases from different cities

Label: New Innovative Care

Type: Experimental

Description: The innovative evaluation process includes the additional involvement of a psychiatrists/psychosomatic expert in all of the processes described for the usual care arm plus the option to use telemedicine in the process of evaluation in addition to outpatient and inpatient visits and to transfer the patient back into standard care (i.e., primary care physician, rehabilitation, psychological/psychosomatic specialized care, etc.)

Acronym ZSE-DUO
Patient Data Undecided
Study Design Info

Allocation: Non-Randomized

Intervention Model: Sequential Assignment

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

Masking: None (Open Label)

Source: ClinicalTrials.gov