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

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.

Conditions

• Rare Diseases
• Orphan Diseases

Interventions

OTHER

dual expert guidance structure

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

Sponsors & Collaborators

• Hannover Medical School

  collaborator OTHER

• University Hospital, Aachen

  collaborator OTHER

• Allianz Chronischer Seltener Erkrankungen ACHSE e.V.

  collaborator UNKNOWN

• Goethe University

  collaborator OTHER

• Universität Münster

  collaborator OTHER

• St. Josef Hospital Bochum

  collaborator OTHER

• Otto-von-Guericke University Magdeburg

  collaborator OTHER

• University Medical Center Mainz

  collaborator OTHER

• University Hospital Regensburg

  collaborator OTHER

• University Hospital Tuebingen

  collaborator OTHER

• University Hospital Ulm

  collaborator OTHER

• IKK gesund plus

  collaborator UNKNOWN

• Techniker Krankenkasse

  collaborator OTHER

• University of Wuerzburg

  collaborator OTHER

• Universitätsklinikum Hamburg-Eppendorf

  collaborator OTHER

• AOK Hessen

  collaborator INDUSTRY

• LWL-Universitätsklinikum der Ruhr-Universität Bochum

  collaborator UNKNOWN

• Wuerzburg University Hospital

  lead OTHER

Study Design

Allocation

NON_RANDOMIZED

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

SEQUENTIAL

Eligibility

Min Age

12 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-10-15

Primary Completion

2022-01-31

Completion

2022-09-30

Countries

• Germany

Study Locations