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

Study Overview
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Brief Summary
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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.

Official Title
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Duale Lotsenstruktur Zur Abklärung Unklarer Diagnosen in Zentren für Seltene Erkrankungen

Conditions
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Rare Diseases, Orphan Diseases

Intervention / Treatment
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* Other: dual expert guidance structure


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 12 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Health Services Research
Allocation: Non-Randomized
Intervention Model: Sequential Assignment
Interventional Model Description: Recruitment of 682 patients into control group during first 12 months of the project and, thereafter, recruitment of 682 patients during subsequent 12 months
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| No Intervention: Usual care<br>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 | |
| Experimental: New Innovative Care<br>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<br>* Two medical experts, one somatic specialist and one psychiatrist/psychosomatic specialist see all medical records and the patients together<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Time to diagnosis | The time it takes to make a diagnosis | 12 months after signing the consent form | 
| 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 | 
| 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 | 
| 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 | 
| 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) | 
| 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) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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psychosomatic, unclear diagnosis