Rare Diseases Clinical Trial
— ZSE-DUOOfficial title:
Duale Lotsenstruktur Zur Abklärung Unklarer Diagnosen in Zentren für Seltene Erkrankungen
Verified date | December 2023 |
Source | Wuerzburg University Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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.
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 |
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 |
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 |
Germany,
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
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) |
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