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

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)

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.

Study Overview

• Status: Recruiting
• Conditions: Cystic Fibrosis
• Intervention / Treatment: Diagnostic test: Questionnaire Patient Reported Outcome Measure (PROM)

Detailed Description

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

• Study Type: Observational
• Enrollment (Anticipated): 2000

Contacts and Locations

• Study Contact: Name: Jochen G Mainz, Prof. MD; Phone Number: +493381411803; Email: jochen.mainz@mhb-fontane.de
• Study Contact Backup: Name: Franziska Duckstein, MA; Phone Number: +493381411841; Email: f.duckstein@klinikum-brandenburg.de

Study Locations

• Germany
  • Brandenburg an der Havel, Germany, 14770
    • Recruiting
    • Klinikum Westbrandenburg
    • Contact: Franziska Duckstein, MA; Phone Number: +493381411841; Email: f.duckstein@klinikum-brandenburg.de
    • Contact: Jochen G Mainz, Prof. Dr.; Phone Number: +493381411803; Email: jochen.mainz@mhb-fontane.de
    • Sub-Investigator: Carlos Zagoya, PhD
    • Sub-Investigator: Franziska Duckstein, MA
  • Brandenburg an der Havel, Germany, 14770
    • Recruiting
    • Medizinische Hochschule Brandenburg (MHB), University
    • Contact: Jochen G Mainz, Prof. Dr.; Phone Number: +493381411803; Email: jochen.mainz@mhb-fontane.de
    • Contact: Franziska Duckstein, MA; Email: f.duckstein@klinikum-brandenburg.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with CF of all ages

Description

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.)

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Medizinische Hochschule Brandenburg Theodor Fontane
• Collaborators: University of Jena
• Investigators: Principal Investigator: Jochen G Mainz, Prof. MD, Medizinische Hochschule Brandenburg (MHB), University

Publications and helpful links

General Publications

• Tabori H, Arnold C, Jaudszus A, Mentzel HJ, Renz DM, Reinsch S, Lorenz M, Michl R, Gerber A, Lehmann T, Mainz JG. Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings. PLoS One. 2017 May 4;12(5):e0174463. doi: 10.1371/journal.pone.0174463. eCollection 2017.
• Tabori H, Jaudszus A, Arnold C, Mentzel HJ, Lorenz M, Michl RK, Lehmann T, Renz DM, Mainz JG. Relation of Ultrasound Findings and Abdominal Symptoms obtained with the CFAbd-Score in Cystic Fibrosis Patients. Sci Rep. 2017 Dec 12;7(1):17465. doi: 10.1038/s41598-017-17302-4.
• Jaudszus A, Zeman E, Jans T, Pfeifer E, Tabori H, Arnold C, Michl RK, Lorenz M, Beiersdorf N, Mainz JG. Validity and Reliability of a Novel Multimodal Questionnaire for the Assessment of Abdominal Symptoms in People with Cystic Fibrosis (CFAbd-Score). Patient. 2019 Aug;12(4):419-428. doi: 10.1007/s40271-019-00361-2.
• Mainz JG, Zagoya C, Polte L, Naehrlich L, Sasse L, Eickmeier O, Smaczny C, Barucha A, Bechinger L, Duckstein F, Kurzidim L, Eschenhagen P, Caley L, Peckham D, Schwarz C. Elexacaftor-Tezacaftor-Ivacaftor Treatment Reduces Abdominal Symptoms in Cystic Fibrosis-Early results Obtained With the CF-Specific CFAbd-Score. Front Pharmacol. 2022 Jun 3;13:877118. doi: 10.3389/fphar.2022.877118. eCollection 2022.
• Jaudszus A, Pfeifer E, Lorenz M, Beiersdorf N, Hipler UC, Zagoya C, Mainz JG. Abdominal Symptoms Assessed With the CFAbd-Score are Associated With Intestinal Inflammation in Patients With Cystic Fibrosis. J Pediatr Gastroenterol Nutr. 2022 Mar 1;74(3):355-360. doi: 10.1097/MPG.0000000000003357.
• Caley LR, Zagoya C, Duckstein F, White H, Shimmin D, Jones AM, Barrett J, Whitehouse JL, Floto RA, Mainz JG, Peckham DG. Diabetes is associated with increased burden of gastrointestinal symptoms in adults with cystic fibrosis. J Cyst Fibros. 2023 Jan 27:S1569-1993(23)00018-8. doi: 10.1016/j.jcf.2023.01.010. Online ahead of print.

Helpful Links

• Validity and Reliability of a Novel Multimodal Questionnaire for the Assessment of Abdominal Symptoms in People with Cystic Fibrosis (CFAbd-Score).

Study record dates

Study Major Dates

• Study Start (Actual): January 26, 2017
• Primary Completion (Anticipated): December 31, 2026
• Study Completion (Anticipated): December 31, 2027

Study Registration Dates

• First Submitted: February 9, 2017
• First Submitted That Met QC Criteria: February 13, 2017
• First Posted (Actual): February 14, 2017

Study Record Updates

• Last Update Posted (Actual): April 4, 2023
• Last Update Submitted That Met QC Criteria: March 31, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: diabetes; Cystic fibrosis; Pancreas; Liver; Abdomen; Gut; Kaftrio; Symptom Score; Patient reported outcome measure (PROM); CFTR-modulator; Tricafta
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Fibrosis; Cystic Fibrosis
• Other Study ID Numbers: CFAbd-Score; CFAbd-Score.kid (Other Identifier: Brandenburg Med.School (Univ.), Brandenb.a.d.Havel/Germany); CFAbd-day2day (Other Identifier: Brandenburg Med.School (Univ.), Brandenb.a.d.Havel/Germany)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Study Data/Documents

1. Abstract NACFC 2021
   Information identifier: org/10.1016/S1569-1993(21)0
   Information comments: Significant reduction in abdominal symptoms assessed with CFAbd-score over 4 weeks of treatment with elexacaftor/tezacaftor/ivacaftor-First results from the RECOVER study J.Mainz, J.Davies,…P.McNally

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No