Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
- Conditions
- Rare DiseasesOrphan Diseases
- Interventions
- Other: dual expert guidance structure
- Registration Number
- NCT03563677
- Lead Sponsor
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 1379
- 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
- age <12 years
- incomplete medical records including summary letters, imaging studies, blood tests etc.
- pre-diagnosed disease(s) explaining all symptoms
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SEQUENTIAL
- Arm && Interventions
Group Intervention Description New Innovative Care dual expert guidance structure 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.)
- Primary Outcome Measures
Name Time Method Diagnoses made 12 months after signing the consent form The number of diagnoses explaining the symptomatology of the patient made during the evaluation process
- Secondary Outcome Measures
Name Time Method Time to diagnosis 12 months after signing the consent form The time it takes to make a diagnosis
Costs of the diagnostic process up to 12 months after signing the consent from estimated costs from first contact with the center for rare diseases until a diagnosis explaining the symptoms has been established
Value of screening instruments for psychiatric-psychosomatic (co-)morbidities 30 months after the project start (end of intervention period) 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)
Patient satisfaction with diagnostic process using ZUF-8 12 months after signing the consent form 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.
Patients' quality of life using EQ-5D and SF12 (or KIDSCREEN-10 for children) 12 months after signing the consent from 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.
Physician satisfaction with new form of care using new questionnaire 30 months after the project start (end of the intervention period) 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.
Trial Locations
- Locations (10)
LWL-Universitätsklinikum der Ruhr-Universität
🇩🇪Bochum, Germany
Center for Rare Diseases, University Hospital
🇩🇪Ulm, Germany
Center for Rare Diseases ZESE, University Hospital
🇩🇪Würzburg, Bavaria, Germany
Center for Rare Diseases ZSEA, University Hospital
🇩🇪Aachen, 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 CeSER, St. Josef Hospital
🇩🇪Bochum, Germany
Center for Rare Diseases FRZSE, UNiversity Hospital
🇩🇪Frankfurt, Germany
Center for Rare Diseases, Medical Center
🇩🇪Mainz, Germany
Center for Rare Diseases ZSER, University Hospital
🇩🇪Regensburg, Germany