Development and Validation of a Disease Specific PROM to Assess Abdominal Involvement in Patients With CF (CFAbd-Score)

Study Overview
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Brief Summary
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Development, validation and evaluation of a new multimodal questionnaire to assess and quantify the abdominal involvement in patients with the inherited life shortening multi-organ disease Cystic fibrosis. In the stepwhise development of the patient reported outcome measures (PROM) repeadedly, CF-patients, their families as well as professionals working in different fields of CF-care will be included.

Detailed Description
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Development of a multimodal questionnaire considering the FDA guidelines for development of a PROM, the CFAbd-Score Evaluation of reliability of the questionnaire by examining internal consistency and construct validity Evaluation of reproducibility of the questionnaire by re-testing of patients Assessment of cross-generational applicability of the questionnaire by sub-scoring of age groups Evaluation of the responsiveness of the score by comparison with age-matched healthy controls Assessment of putative relationships of abdominal symptoms with faecal inflammatory markers Assessment of applicability of the questionnaire in other CF centers Transfer the CFAbd-Score to other countries and languages Development and validation of a CF-specific tool for daily assessment of abdominal symptoms (patient diary), the CFAbd-day2day Development and validation of a CF-specific tool for assessment of abdominal symptoms in children < 12 years of age, the CFAbd-kid

Official Title
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Evaluation and Validation of a New Questionnaire to Identify and Quantify Abdominal Symptoms in Patients With Cystic Fibrosis Following FDA Guidelines: the CF Abd-Score (Primarily Named JenAbdomen-CF Score)

Conditions
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Cystic Fibrosis

Intervention / Treatment
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* Diagnostic Test: Questionnaire Patient Reported Outcome Measure (PROM)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: CF cohort: Diagnosis of CF determined by a sweat chloride of >60 mEq/L and/or detection of 2 disease causing CFTR mutations with evidence of organ involvement. Healthy controls: Age-matched Exclusion Criteria: CF cohort: Lacking ability to cooperate of patients /their families, respectively Healthy controls: Other diseases causing abdominal symptoms (Inflammatory bowel disease (IBD), alpha 1 antitrypsin deficiency, celiac disease, food allergy, gastroenteritis, etc.)
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with CF<br>>2000 in Germany, France, Italy, Spain, Denmark, Belgium, Portugal, GB, Ireland, USA, Australia, Canada, Brazil, Argentina... | Diagnostic Test: Questionnaire Patient Reported Outcome Measure (PROM)<br>* non-interventional<br>* Other names: routine-care assessments;|
| Age-matched healthy controls<br>>100 in Germany >100 in each of the other participating countries | Diagnostic Test: Questionnaire Patient Reported Outcome Measure (PROM)<br>* non-interventional<br>* Other names: routine-care assessments;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Development and evaluation of the CFAbd-Score (initially named JenAbdomen CF-Score), a CF-specific PROM following FDA recommendations | Evaluation and validation of the CFAbd-Score based on a CF patient-reported outcome measure (PROM) that includes all relevant gastrointestinal symptoms and their impact on subjective quality of life | 7 years | 
| Development and evaluation of a diary for assessment and quantification of abdominal symptoms, a CF-specific PROM following FDA recommendations |  | 7 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings | relating CFAbd-Scores to history, clinical- and laboratory findings | 7 years | 
| Assessing the Relation of Ultrasound Findings and Abdominal Symptoms obtained with the CFAbd-Score in Cystic Fibrosis Patients | abdominal ultrasound | 3 years | 
| Effects of a new therapy with CFTR-modulator on abdominal symtoms, quantified with the CFAbd-Score | Assessing the CFAbd-Score´s sensitivity to identify and quantify changes due to effective therapeutic interventions, following FDA-guidelines for validation of a PROM | 7 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cystic fibrosis, Abdomen, Pancreas, Liver, Symptom Score, Patient reported outcome measure (PROM), diabetes, CFTR-modulator, Tricafta, Kaftrio, Gut