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

NCT ID: NCT03563677

Last Updated: 2023-12-13

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 1379 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2018-10-15
• Study Completion Date: 2022-09-30

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.

Conditions

Rare Diseases; Orphan Diseases

Keywords

psychosomatic; unclear diagnosis

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SEQUENTIAL
• Primary Study Purpose: HEALTH_SERVICES_RESEARCH
• Blinding Strategy: NONE

Study Groups

Usual care

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

Group Type: NO_INTERVENTION

No interventions assigned to this group

New Innovative Care

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.)

Group Type: EXPERIMENTAL

dual expert guidance structure

Intervention Type: OTHER

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

Interventions

dual expert guidance structure

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

Intervention Type: OTHER

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

• Minimum Eligible Age: 12 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hannover Medical School

OTHER

Sponsor Role: collaborator

University Hospital, Aachen

OTHER

Sponsor Role: collaborator

Allianz Chronischer Seltener Erkrankungen ACHSE e.V.

UNKNOWN

Sponsor Role: collaborator

Goethe University

OTHER

Sponsor Role: collaborator

Universität Münster

OTHER

Sponsor Role: collaborator

St. Josef Hospital Bochum

OTHER

Sponsor Role: collaborator

Otto-von-Guericke University Magdeburg

OTHER

Sponsor Role: collaborator

University Medical Center Mainz

OTHER

Sponsor Role: collaborator

University Hospital Regensburg

OTHER

Sponsor Role: collaborator

University Hospital Tuebingen

OTHER

Sponsor Role: collaborator

University Hospital Ulm

OTHER

Sponsor Role: collaborator

IKK gesund plus

UNKNOWN

Sponsor Role: collaborator

Techniker Krankenkasse

OTHER

Sponsor Role: collaborator

University of Wuerzburg

OTHER

Sponsor Role: collaborator

Universitätsklinikum Hamburg-Eppendorf

OTHER

Sponsor Role: collaborator

AOK Hessen

INDUSTRY

Sponsor Role: collaborator

LWL-Universitätsklinikum der Ruhr-Universität Bochum

UNKNOWN

Sponsor Role: collaborator

Wuerzburg University Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Center for Rare Diseases ZESE, University Hospital

Würzburg, Bavaria, 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

Hanover, , 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

Münster, , Germany

Center for Rare Diseases ZSER, University Hospital

Regensburg, , Germany

Center for Rare Diseases, University Hospital

Tübingen, , Germany

Center for Rare Diseases, University Hospital

Ulm, , Germany

Countries

Germany

References

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.

Reference Type: BACKGROUND

PMID: 35925266 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 35164804 (View on PubMed)

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.

Reference Type: RESULT

PMID: 37855024 (View on PubMed)

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.

Reference Type: RESULT

PMID: 35793670 (View on PubMed)

Other Identifiers

ZSE-DUO_V1

Identifier Type: -

Identifier Source: org_study_id