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

NCT03563677 | Completed

• 1 other identifier: ZSE-DUO_V1
• Study Type: interventional
• Target: 1,379
• Locations: 1 country
• Sites: 12

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (6)

• 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)

Study Arms (2)

Usual care

NO INTERVENTION

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

New Innovative Care

EXPERIMENTAL

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.)

Other: dual expert guidance structure

Interventions

dual expert guidance structure OTHER

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

New Innovative Care

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

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

Study Sites (12)

Center for Rare Diseases ZESE, University Hospital

Würzburg, Bavaria, 97080, Germany

Location

Center for Rare Diseases ZSEA, University Hospital

Aachen, 52074, Germany

Location

Center for Rare Diseases CeSER, St. Josef Hospital

Bochum, 44791, Germany

Location

LWL-Universitätsklinikum der Ruhr-Universität

Bochum, 44791, Germany

Location

Center for Rare Diseases FRZSE, UNiversity Hospital

Frankfurt, 60590, Germany

Location

Center for Rare Diseases, Hannover Medical School

Hanover, 30625, Germany

Location

Center for Rare Diseases MKSE, Otto von Guericke University

Magdeburg, Germany

Location

Center for Rare Diseases, Medical Center

Mainz, 55131, Germany

Location

Center for Rare Diseases, University Hospital

Münster, 48149, Germany

Location

Center for Rare Diseases ZSER, University Hospital

Regensburg, 93053, Germany

Location

Center for Rare Diseases, University Hospital

Tübingen, 72076, Germany

Location

Center for Rare Diseases, University Hospital

Ulm, 89075, Germany

Location

Related Publications (4)

• 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.

  PMID: 35925266 BACKGROUND

• 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.

  PMID: 35164804 BACKGROUND

• 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.

  PMID: 37855024 RESULT

• 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.

  PMID: 35793670 RESULT

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Recruitment of 682 patients into control group during first 12 months of the project and, thereafter, recruitment of 682 patients during subsequent 12 months

Study Record Dates

• First Submitted: May 23, 2018
• First Posted: June 20, 2018
• Study Start: October 15, 2018
• Primary Completion: January 31, 2022
• Study Completion: September 30, 2022
• Last Updated: December 13, 2023

Record last verified: 2023-12

Locations

DE (12)